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New & Noteworthy...


Genetic Center
Filatov's Child Clinical Hospital © 2001-2008
Vladimir Solonichenko MD, Clinical Geneticist,©
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www.scirus.com

The most recent articles published online

Full Screen
August 29, 2008
  • Initial Posting: 1 August 2008 by syndromology@gmail.com
    •  
    HUMAN GENETICS (General Aspects)
    Victor McKusick, 86, Dies; Medical Genetics Pioneer
    Developmental origins of disease and determinants of chromatin structure: maternal diet modifies the primate fetal epigenome -- Aagaard-Tillery et al. - J Mol Endocrinol 2008, 41(2): 91-102.
    Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association - Webb et al. - PNAS 2008, 105(30):10471-10476
    German genetics society condemns doctors who took part in eugenics programme in Nazi era -- Stafford N. - BMJ 2008, 337 (173): a876
    Combinatorial patterns of somatic gene mutations in cancer -- Yeang et al. - FASEB J. 2008, 22(8): 2605-2622.
    Genomic medicine in Mexico: Initial steps and the road ahead -- Jimenez-Sanchez et al. - Genome Res. 2008, 18(8): 1191-1198 (Free full text)
    Whole genome scanning as a cytogenetic tool in hematologic malignancies - Maciejewski and Mufti - Blood 2008, Vol. 112, No. 4, pp. 965-974.
    Oliver Quarrell: Huntington's Disease: The Facts (2nd edition), by Oliver Quarrell. Oxford (UK) Oxford University Press, 2008 [ Journal of Heredity 2008, 99(5):568 - Book Review ]
    Interethnic and Intraethnic Variability of NAT2 Single Nucleotide Polymorphisms - García-Martín E. - Curr Drug Metab. 2008; 9(6):487-97.
    The new genetics and chronic obstructive pulmonary disease - Kalshekerand Chappell - COPD 2008; 5(4):257-64.
    Sex, age, and genetics in anesthesia - Booij LH. - Curr Opin Anaesthesiol. 2008; 21(4):462-6.
    Human models of aging and longevity - Cevenini et al. - Expert Opin Biol Ther. 2008; 8(9):1393-405.
    The role of evidence-based medicine and clinical trials in rare genetic disorders - Kruer and Steiner - Clinical Genetics 2008, 74(3):197-207 Chromosomal Abnormalities in Cancer - Fröhling and Döhner - NEJM 2008, 359(7):722-734
    Human inheritance, differences and diseases: putting genes in their place. Part I - Marcus Pembrey - Paediatric and Perinatal Epidemiology 2008, 22(5):497-504 (No abstract)
    DNA polymerases and human disease - Loeb and Monnat - Nature Reviews Genetics 2008, 9(8):594-604
    Single-strand break repair and genetic disease - Caldecott KW. - Nature Reviews Genetics 2008, 9(8):619-631
    Theology, Disability and the New Genetics: Why Science Needs the Church - Quillin JM. - Journal of Genetic Counseling 2008, 17(4):406-407 Genomic Medicine: /Grand challenges/; in the translation of genomics to human health - Ginsburg GS - Eur J Hum Genet 2008, 16(8): 873-874 (Free full text)
    Exchangeable Models of Complex Inherited Diseases -- Slatkin M. - Genetics 2008, 179(4):2253–2261
    Genetic Research in Schizophrenia: New Tools and Future Perspectives -- Bertram L. - Schizophr Bull 2008, 34(5):806-812
    Epidermal Neural Crest Stem Cells (EPI-NCSC) and Pluripotency - Sieber-Blum and Hu - Stem Cell Rev. 2008 Aug 20. [Epub ahead of print] Mesenchymal stem cells in health and disease - Uccelli et al. - Nature Reviews Immunology, advance online publication, 18 August 2008
    Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease - Stewart et al. - Nature Reviews Genetics 2008, 9(9):657-662
    Epigenetics, Development, and the Kidney -- Dressler GR. - J Am Soc Nephrol published 20 August 2008
    Towards a cyberinfrastructure for the biological sciences: progress, visions and challenges - Stein LD. - Nature Reviews Genetics 2008, 9(9):678-688
    Last update: 29 August 2008. Cardiovascular Genetics and Genomics for the Cardiologist - MacRae CA. - Circulation 2008; 118(9): e138
    Medical Ethics for the Genome World: A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology -- Ormond KE. - J Mol Diagn 2008, 10(5): 377-382
    The DLX1and DLX2 genes and susceptibility to autism spectrum disorders - Liu et al. - European Journal of Human Genetics advance online publication 27 August 2008
     
    DYSMORPHOLOGY
    Gastroschisis: Evidence and Challenges - American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2008, Volume 148C, Issue 3 (Special Issue)
    Periconceptional use of weight loss products including ephedra and the association with birth defects - Bitsko et al. - Birth Defects Research (Part A) 2008, 82(8):553-562
    Prevention of NTDs with periconceptional multivitamin supplementation containing folic acid in China - Chen et al. - Birth Defects Research (Part A), 2008, 82(8):592-596
    An evaluation of the recording of folic acid use in the South West Congenital Anomaly Register - Mytton et al. - Prenatal Diagnosis 2008, 28(8):722-726
     
    Molecular Dysmorphology
    Tissue-specific requirements of {beta}-catenin in external genitalia development -- Lin et al. - Development 2008, 135(16):2815-2825.
    A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb -- Furniss et al. - Hum. Mol. Genet. 2008, 17(16): 2417-2423 (Free full text)
    Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination -- Pawlisz et al. - Hum. Mol. Genet. 2008, 17(16): 2441-2455 (Free full text)
    Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy -- Kimura et al. - Hum. Mol. Genet. 2008, 17(16): 2507-2517
    Plasma Levels of Vascular Endothelial Growth Factor After Treatment for Cerebral Arteriovenous Malformations -- Kim et al. - Stroke 2008; 39(8):2274-2279
    Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice - Murphy et al. - PNAS, Published online before print July 30, 2008
    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A - Fallet-Bianco et al. - Brain. 2008 Jul 18. [Epub ahead of print]
    Huntington;s disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies - Savas et al. - PNAS 2008, 105(31):10820-10825
    Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver - Xie et al. - PNAS 2008, 105(31):10859-10864 Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice - Murphy et al. - PNAS 2008, 105(31):10901-10906 GATA transcription factors directly regulate the Parkinson's disease-linked gene α-synuclein - Scherzer et al. - PNAS 2008, 105(31):10907-10912
    Epigenetic regulation in male germ cells -- Zamudio et al. - Reproduction 2008, 136(2):131-146 (Free full text)
    Phosphatidylinositol 3-kinase signaling in mammalian preimplantation embryo development - Chris Neill - Reproduction 2008, 136(2):147-156 (Free full text)
    Role of Hormones, Genes, and Environment in Human Cryptorchidism -- Foresta et al. - Endocr Rev 2008, 29(5): 560-580
    The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease - Moore et al. - J Pediatr Surg. 2008; 43(8):1439-44.
    Cystic Adenomatoid Malformations Are Induced by Localized FGF10 Overexpression in Fetal Rat Lung -- Gonzaga et al. - Am. J. Respir. Cell Mol. Biol. 2008; 39(3): 346-355.
    Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of Lmbr1 gene -- Park et al., - Genetics published 9 August 2008
    A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund -- Wiik et al., - Genome Res. published 7 August 2008
    Hypermethylation of CXCR4 Promoter in CD34+ Cells from Patients with Primary Myelofibrosis -- Bogani et al. - Stem Cells 2008; 26(8): 1920-1930 Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1 - Lodder et al. - Am J Med Genet Part A 2008, 146A(16):2152-2154. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally - Tajsharghi et al. - Arch Neurol. 2008; 65(8):1083-90.
    ALVEOLAR CAPILLARY DYSPLASIA: ABSENCE OF CD117 IMMUNOREACTIVITY OF PUTATIVE HEMANGIOBLAST PRECURSOR CELLS - Chang et al. - Fetal and Pediatric Pathology 2008, 27(3):127-140
    Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca - Kruger et al. - Pediatric Surgery International 2008, 24(8):893-897
    Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat - Kaisaki et al. - European Journal of Medical Genetics 2008, 51(4):325-331
    MicroRNA and cardiac pathologies -- Latronico et al. - Physiol. Genomics 2008; 34(3): 239-242
    Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment -- Yang et al. - Hum. Reprod. 2008, 23(9):2167-2172
    MicroRNAs: novel regulators in cardiac development and disease -- Thum et al. - Cardiovasc Res 2008 79(4):562-570 (Free Full Text)
    Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate - Chiquet et al. - European Journal of Human Genetics advance online publication 20 August 2008
    Pbx/Meis Deficiencies Demonstrate Multigenetic Origins of Congenital Heart Disease -- Stankunas et al., - Circ Res published 21 August 2008
    Lim Homeobox Gene, Lhx8, Is Essential for Mouse Oocyte Differentiation and Survival -- Choi et al. - Biol Reprod 2008, 79(3):442-449. Microcephalin/MCPH1 associates with the condensin ii complex to function in homologous recombination repair -- Wood et al., - J. Biol. Chem. published 21 August 2008
    Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations - Sull et al. - Am J Med Genet 2008, 146A(18):2327-2331
    Vertical transmission of a mutation in exon 1 of the WT1 gene: Lessons for genetic counseling - Regev et al. - Am J Med Genet 2008, 146A(18):2332-2336
    Last update: 29 August 2008. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin -- Gambineri et al. - Eur J Endocrinol 2008, 159(3): 347-353.
    NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling -- McBride et al. - Hum. Mol. Genet. 2008, 17(18): 2886-2893
    Hedgehog signaling to distinct cell types differentially regulates coronary artery and vein development -- Lavine et al. - Development 2008, 135(18):3161-3171.
    Congenital Fiber-Type Disproportion - DeChene et al. - GeneReviews   
     
    Nonsyndromic Birth Defects
    Presyrinx in children with Chiari malformations -- Goh et al. - Neurology 2008, 71(5): 351-356.
    Susceptibility-weighted imaging in familial cerebral cavernous malformations - Cooper et al. - Neurology 2008, 71(5):382.
    Disease severity and family history in keratoconus - Szczotka-Flynn et al. - Br J Ophthalmol. 2008; 92(8):1108-11
    Sensorineural hearing impairment in children with Chiari I malformation - Simons et al. - Ann Otol Rhinol Laryngol. 2008; 117(6):443-7.
    X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits -- Kent et al. - J Med Genet 2008; 45(8): 519-524.
    Infantile Thoracolumbar Kyphosis Secondary to Lumbar Hypoplasia -- Campos et al. - J Bone Joint Surg Am. 2008; 90(8):1726-1729
    Long-Term Outcome of the Ketogenic Diet for Intractable Childhood Epilepsy With Focal Malformation of Cortical Development -- Jung et al. - Pediatrics 2008; 122(2): e330-e333.
    Structural and Functional Lung Disease in Primary Ciliary Dyskinesia -- Santamaria et al. - Chest 2008,134(2):351–357.
    Autosomal Recessive Polycystic Kidney Disease - MacRae Dell and Avner - GeneReviews
    Brachydactyly, type E - Birth Defects Images
    Aniridia - Hingorani and Moore - GeneReviews
    Congenital Fiber-Type Disproportion - DeChene et al. - GeneReviews
    Rare case of fetal gastroschisis with aplasia of the foot and external genital organs - Rao et al. - Congenital Anomalies 2008, 48(3):140-141
    The genetic basis of inherited anomalies of the teeth : Part 1: Clinical and molecular aspects of non-syndromic dental disorders - Bailleul-Forestier et al. - European Journal of Medical Genetics 2008, 51(4):273-291
    Abnormal Number of Fetal Ribs on 3-Dimensional Ultrasonography: Associated Anomalies and Outcomes in 75 Fetuses -- Gindes et al. - J Ultrasound Med 2008, 27(9): 1263-1271.
    Cavitary anomalies of the optic disc: neurologic significance - Golnik KG. - Curr Neurol Neurosci Rep. 2008; 8(5):409-13.
    Last update: 28 August 2008. Familial Exudative Vitreoretinopathy, Autosomal Dominant - Toomes and Downey - GeneReviews
     
     
    Epidemiology of the Birth Defects
    The fragile X prevalence paradox -- Hagerman PJ. - J Med Genet 2008; 45(8): 498-499.
    Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal -- Saravelos et al. - Hum Reprod Update 2008, 14(5): 415-429
    Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations - Leoncini et al. - Birth Defects Research (Part A), 2008, 82(8):585-591
    Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study - Puho et al. - Congenital Anomalies 2008, 48(3):126-136
    Minor Anomalies
    Autosomal dominant isolated question mark ear - Shkalim et al. - Am J Med Genet A. 2008 Aug 4. [Epub ahead of print]
     
    SYNDROMOLOGY
     
    Molecular Syndromology
    Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene -- Sartori et al. - J Child Neurol 2008, 23(8):912-915.
    The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation -- Payne et al. - Diabetes 2008, 57(8): 2055 -2060.
    Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome -- Krol et al. - Nephrol. Dial. Transplant. 2008, 23(8): 2525-2530
    Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations - Khan et al. - J Child Neurol. 2008; 23(7):829-31.
    Ras Signaling Mechanisms Underlying Impaired GluR1-Dependent Plasticity Associated with Fragile X Syndrome -- Hu et al. - J. Neurosci. 2008, 28(31): 7847-7862
    An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians - Ebermann et al. - 1: Eur J Hum Genet. 2008 Jul 30. [Epub ahead of print]
    Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations - Zenteno et al. - Mol Vis. 2008; 14:1353-7.
    Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome - Liu et al. - Eye. 2008 Jul 25. [Epub ahead of print]
    Multiple De Novo Mutations in the MECP2 Gene - Bunyan and Robinson - Genet Test. 2008 Jul 24. [Epub ahead of print]
    Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome - Narumi et al. - J Hum Genet. 2008 Jul 24. [Epub ahead of print]
    Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient - Pasmant et al. - Eur J Hum Genet. 2008 Jul 23. [Epub ahead of print]
    Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome - Beysen et al. - Hum Mutat. 2008 Jul 18. [Epub ahead of print]
    Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome - Kalscheuer et al. - Am J Med Genet A. 2008; 146A(16):2053-2059.
    Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders -- Nyström et al. - J Med Genet 2008; 45(8): 500-506.
    Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families -- Bougeard et al. - J Med Genet 2008; 45(8): 535-538.
    New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome -- de Alencastro et al. - J Med Genet 2008; 45(8): 539-543.
    A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands - Hjortshoj et al. - Br J Ophthalmol. 2008 Jul 31. [Epub ahead of print]
    The Neurological Presentation of Ceruloplasmin Gene Mutations - McNeill et al. - Eur Neurol. 2008; 60(4):200-205
    Constitutively activated ALK2 and increased smad1/5 cooperatively induce BMP signaling in fibrodysplasia ossificans progressiva -- Fukuda et al., - J. Biol. Chem. published 6 August 2008
    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome — PNAS, Published online before print August 6, 2008
    Seckel syndrome: when developmental pathways determining brain and body size go wrong - Visscher H. - Clin Genet. 2008 Aug 4. [Epub ahead of print]
    The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase {delta} - Selak et al. - Nucleic Acids Res. 2008 Aug 5. [Epub ahead of print]
    Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 - Barel et al. - Am J Hum Genet. 2008; 83(2):193-9.
    Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins - Blaumeiser et al. - Am J Med Genet A. 2008 Jul 31. [Epub ahead of print]
    Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally - Tajsharghi et al. - Arch Neurol. 2008; 65(8):1083-1090.
    Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome: Novel MPV17 Mutations - Spinazzola et al. - Arch Neurol. 2008; 65(8):1108-1113.
    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome - Shlien et al. - PNAS 2008, 105(32):11264-11269 Analysis of highly conserved regions of the 3UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation - Santos et al. - Dis Markers 2008; 24(6):319-24.
    A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site - Liang et al. - J Mol Diagn. 2008 Aug 7. [Epub ahead of print]
    The microRNA pathway and fragile X mental retardation protein - Li et al. - Biochim Biophys Acta. 2008 Jul 18. [Epub ahead of print]
    LOSS-OF-FUNCTION MUTATIONS IN THE GENES ENCODING PROKINETICIN-2 OR PROKINETICIN RECEPTOR-2 CAUSE AUTOSOMAL RECESSIVE KALLMANN SYNDROME - Abreu et al. - J Clin Endocrinol Metab. 2008 Aug 5. [Epub ahead of print]
    Genetic origins of hyper-IgE syndrome - Minegishi and Karasuyama - Curr Allergy Asthma Rep. 2008; 8(5):386-91.
    Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome - Chigancas et al. - Cancer Res. 2008; 68(15):6074-83.
    Mechanisms of imprinting of the Prader-Willi/Angelman region - Horsthemke and Wagstaff - Am J Med Genet Part A 2008, 146A(16):2041-2052. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome - Kalscheuer et al. - Am J Med Genet Part A 2008, 146A(16):2053-2059
    Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia - Barone et al. - Am J Med Genet Part A 2008, 146A(16):2103-2108.
    Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia - Douzgou et al. - Am J Med Genet Part A 2008, 146A(16):2116-2121. Identification of Association of Common AGGF1 Variants with Susceptibility for Klippel-Trenaunay Syndrome Using the Structure Association Program - Hu et al. - Annals of Human Genetics 2008, 72(5):636-643
    The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders - Aoki et al. - Human Mutation 2008, 29(8):992-1006 Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome - Tassabehji et al. - Human Mutation 2008, 29(8):1017-1027
    Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation -- Ugur and Tolun - Hum. Mol. Genet. 2008, 17(17): 2644-2653
    Autophagic dysfunction in mucolipidosis type IV patients -- Vergarajauregui et al. - Hum. Mol. Genet. 2008, 17(17): 2723-2737 (Free full text)
    Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients - Ferreira et al. - Clinical Endocrinology 2008, 69(3):426-431
    Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation - Murphy et al. - Familial Cancer 2008, 7(3):255-257
    Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation - Milenkovic et al. - European Journal of Pediatrics 2008, 167(9):1049-1055
    Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) - Alsmadi et al. - Eur J Hum Genet advance online publication, August 13, 2008
    Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype - Borsani et al. - European Journal of Medical Genetics 2008, 51(4):292-302
    No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver–Russell patients - Schoherr et al. - European Journal of Medical Genetics 2008, 51(4):322-324
    P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes - Hirshoren et al. - European Journal of Medical Genetics 2008, 51(4):351-357
    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome - Cantagrel et al. - The American Journal of Human Genetics 2008, 83(2):170-179
    Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 - Barel et al. - The American Journal of Human Genetics 2008, 83(2):193-199
    Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes - Ni et al. - The American Journal of Human Genetics 2008, 83(2):261-268
    Association between Common Genetic Variation in Cockayne Syndrome A and B Genes and Nucleotide Excision Repair Capacity among Smokers -- Leng et al. - Cancer Epidemiol Biomarkers Prev 2008, 17(8): 2062-2069
    Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome - Izzotti et al. - Neurology 2008;71(8):610-2 (No abstract)
    A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia - Zhang et al. - Clin Exp Dermatol. 2008 Aug 12. [Epub ahead of print]
    Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14 - Yiasemides et al. - Clinical and Experimental Dermatology. Published Online: 18 Aug 2008
    A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly - Faria et al. - Int J Cardiol. 2008 Aug 13. [Epub ahead of print]
    The mutation spectrum in RECQL4 diseases - Siitonen et al. - European Journal of Human Genetics advance online publication 20 August 2008
    Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation - Madej-Pilarczyk et al. - European Journal of Paediatric Neurology 2008, 12(5):427-430
    Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and AIP (aryl hydrocarbon receptor-interacting protein) genes in MEN1 syndrome patients without any detectable MEN1 gene mutations - Igreia et al. - Clin Endocrinol (Oxf). 2008 Aug 15. [Epub ahead of print]
    Ghrelin concentrations in Prader-Willi Syndrome (PWS) infants and children: changes during development - Hagg et al. - Clinical Endocrinology. Published Online:15 Aug 2008
    Statins Use a Novel Nijmegen Breakage Syndrome-1-Dependent Pathway to Accelerate DNA Repair in Vascular Smooth Muscle Cells -- Mahmoudi et al., - Circ Res published 21 August 2008
    Tuberous sclerosis--what's new? -- Osborne et al. - Arch Dis Child 2008; 93(9):728-731.
    Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation - Hsieh et al. - Am J Med Genet 2008, 146A(18):2337-2345
    Last update: 29 August 2008. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A -- Fallet-Bianco et al. - Brain 2008, 131(9): 2304-2320
    PTHR1 mutations associated with Ollier disease result in receptor loss of function -- Couvineau et al. - Hum. Mol. Genet. 2008, 17(18): 2766-2775 Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions -- Yehezkel et al. - Hum. Mol. Genet. 2008, 17(18): 2776-2789
    Dlx3 is a crucial regulator of hair follicle differentiation and cycling -- Hwang et al. - Development 2008, 135(18):3149-3159.
    PCR-Based Analysis of Differentially Methylated Regions of GNAS Enables Convenient Diagnostic Testing of Pseudohypoparathyroidism Type Ib -- Weinhaeusel et al. - Clin Chem 2008, 54(9): 1537-1545.
    Complement deficiency and disease -- Unsworth DJ. - J Clin Pathol 2008; 61(9): 1013-1017.
    Evaluating the Role of LPIN1 Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations -- Fawcett et al. - Diabetes 2008, 57(9): 2527 -2533.
    Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome - Han et al. - NEJM 2008, 359(9):918-927
    The Werner Syndrome Protein Binds Replication Fork and Holliday Junction DNAs as an Oligomer -- Compton et al. - J. Biol. Chem. 2008; 283(36): 24478-24483
    CGI-58, the Causative Gene for Chanarin-Dorfman Syndrome, Mediates Acylation of Lysophosphatidic Acid -- Ghosh et al. - J. Biol. Chem. 2008; 283(36) 24525-24533
    Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene - Shirwalkar et al. - J Inherit Metab Dis. 2008 Aug 12. [Epub ahead of print]
    Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study - AlFadhli et al. - Med Princ Pract. 2008; 17(5):395-9. Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR - Yamazawa et al. - J Hum Genet. 2008 Aug 16. [Epub ahead of print]
    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome - Ahmed et al. - Hum Genet. 2008 Aug 22. [Epub ahead of print]
     
    Animal Models of Human Syndromes
    Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome -- Molina et al. - Hum. Mol. Genet. 2008, 17(16): 2486-2495
    A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene, Ddr2, in the Mouse -- Kano et al. - Mol Endocrinol 2008, 22(8):1866-1880
    The porcine lung as a potential model for cystic fibrosis -- Rogers et al. - Am J Physiol Lung Cell Mol Physiol 2008, 295(2): L240-L263
    Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome -- Probst et al. - Journal of Heredity 2008, 99(5):512-517
    Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches - Ricceri et al. - Behav Pharmacol. 2008; 19(5-6):501-17.
    Sex differences in a transgenic rat model of Huntington;s disease: decreased 17{beta}-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males -- Bode et al. - Hum. Mol. Genet. 2008, 17(17): 2595-2609
    Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease -- Wang et al. - Hum. Mol. Genet. 2008, 17(17): 2738-2751
    A Drosophila model for Angelman syndrome - Wu et al. - PNAS, Published online before print August 13, 2008,
    Last update: 29 August 2008. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant Ca V 2.1 channels - Watase et al. - PNAS 2008, 105(33):1987-11992 (Free full text)
    Irradiation Prolongs Survival of Alport Mice -- Katayama et al. - J Am Soc Nephrol 2008, 19(9): 1692-1700.
    A Drosophila model for Angelman syndrome - Wu et al. - PNAS 2008, 105(34):12399-12404
    A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund -- Wiik et al. - Genome Res. 2008, 18(9): 1415-1421.
     
    CHROMOSOMAL ANOMALIES
     
     
    Chromosomal Disorders: Well-Known Syndromes
    A case with a ring chromosome 22 - Koc et al. - Turk J Pediatr. 2008; 50(2):193-6.
    Short stature in a phenotypic male caused by mixed gonadal dysgenesis - Jacobsen and Cohen - Nat Clin Pract Endocrinol Metab. 2008 Jul 22. [Epub ahead of print]
    Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p - Hauge et al. - Genet Med. 2008 Jul 16. [Epub ahead of print]
    Acute leukemia in children with Down's syndrome: the importance of population based study -- James et al. - Haematologica 2008, 93(8): 1262-1263.
    The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome -- Zollino et al. - J Med Genet 2008; 45(8): 544 (POSTSCRIPT)
    Increase in Incidence of Medically Treated Thyroid Disease in Children With Down Syndrome After Rerelease of American Academy of Pediatrics Health Supervision Guidelines -- Carroll et al. - Pediatrics 2008; 122(2): e493-e498.
    Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene-dose effect from the X chromosome - Scofield et al. - Arthritis Rheum. 2008; 58(8):2511-2517
    Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events - Dahoun et al. - Am J Med Genet Part A 2008, 146A(16):2086-2093.
    Effects of sex chromosome aneuploidy on male sexual behavior - Park et al. - Genes, Brain and Behavior 2008, 7(6):609-617
    Endotracheal intubation using a levering laryngoscope in a pediatric patient with Turner syndrome - Kim et al. - Pediatric Anesthesia 2008, 18(9):912-913 (No abstract)
    Down syndrome and the enteric nervous system - Moore SW. - Pediatric Surgery International 2008, 24(8):873-883
    The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia - Keckler et al. - Pediatric Surgery International 2008, 24(8):921-923
    Down syndrome and aberrant right subclavian artery - Roofthooft et al. - European Journal of Pediatrics 2008, 167(9):1033-1036 (Free full text)
    The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem - Smigiel et al. - European Journal of Pediatrics 2008, 167(9):1063-1065
    Patau syndrome with long survival in a case of unusual mosaic trisomy 13 - Fogu et al. - European Journal of Medical Genetics 2008, 51(4):303-314
    Last update: 29 August 2008. Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome -- Liu et al. - FASEB J. 2008, 22(9): 3224-3233.
    Edwards syndrome with double trisomy - Tennakoon et al. - Singapore Med. J, 2008; 49(7) : e190 (Free full text-pdf)
     
    Microdeletion-Microduplication syndromes
    Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings -- Puvabanditsin et al. - J Child Neurol 2008, 23(8):922-925.
    Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism - Galasso et al. - J Child Neurol. 2008; 23(7):802-6.
    Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement - Ou et al. - 1: Am J Med Genet A. 2008 Jul 29. [Epub ahead of print]
    Angelman syndrome: clinical findings and follow-up data of 14 patients - Kara et al. - Turk J Pediatr. 2008; 50(2):137-42.
    Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter) - Rump et al. - Clin Genet. 2008 Jul 21. [Epub ahead of print]
    Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype - Bonaglia et al. - Eur J Hum Genet. 2008 Jul 23. [Epub ahead of print]
    Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements - Emanuel BS. - Dev Disabil Res Rev. 2008; 14(1):11-8.
    Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q - Calounova et al. - Am J Med Genet A. 2008; 146A(15):1955-62.
    15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization - Brunetti-Pierri et al. - Am J Med Genet A. 2008; 146A(15):1933-41.
    Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype - Izumi et al - Am J Med Genet A. 2008; 146A(15):1967-71.
    Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p - Coman et al. - Am J Med Genet A. 2008; 146A(15):1972-76.
    De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently balanced paracentric inversion of 14(q21q23) - Jiang et al. - Am J Med Genet A. 2008; 146A(15):1986-93.
    A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features - Papa et al. - Am J Med Genet A. 2008; 146A(15):1994-98.
    A report of a patient with interstitial deletion of 15q22: Further delineation of a new micro deletion syndrome - Phadke and Sharda - Am J Med Genet A. 2008; 146A(15):1999-2000 (Letter)
    A new case of proximal monosomy 1p36, extending the phenotype - Rudnik-Schöneborn et al. - Am J Med Genet A. 2008; 146A(15):2018-22 (Letter)
    SPINAL DEFORMATIONS IN 51 CHILDREN WITH WILLI-PRADER SYNDROME -- KOURÉAS et al. - J Bone Joint Surg Br 2008, 90-B/Supp II/: 247-a
    Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood -- Philippe et al. - Pediatrics 2008; 122(2): e376-e382.
    Scoliosis in Patients With Prader-Willi Syndrome -- Odent et al. - Pediatrics 2008; 122(2): e499-e503.
    Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q - Shinawi et al. - Blood 2008, Vol. 112, No. 4, pp. 1042-1047.
    Trisomy 9q, partial - Birth Defects Images Recommendations for the diagnosis and management of Prader-Willi syndrome -- Goldstone et al., - J Clin Endocrinol Metab published 12 August 2008
    Williams syndrome in a preterm infant with phenotype of Alagille syndrome - Shah et al. - Am J Med Genet A. 2008 Aug 7. [Epub ahead of print] Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients - Martinet et al. - Am J Med Genet Part A 2008, 146A(16):2094-2102.
    Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome - Callier et al. - Am J Med Genet Part A 2008, 146A(16):2109-2115. Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader–Willi syndrome - Festen et al. - Clinical Endocrinology 2008, 69(3):443-451
    Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion - Torniero et al. - Eur J Hum Genet 2008, 16(8): 880-887 (Free full text)
    A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22q12.1: Clinical, cytogenetic and molecular observations - Vaglio et al. - European Journal of Medical Genetics 2008, 51(4):332-342
    Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH - Utine et al. - European Journal of Medical Genetics 2008, 51(4):343-350
    A 15 Mb duplication of 6q24.1–q25.3 associated with typical but milder features of the duplication 6q syndrome - Zweier et al. - European Journal of Medical Genetics 2008, 51(4):358-363
    A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay - Thiel et al. - European Journal of Medical Genetics 2008, 51(4):362-367
    A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay - Chen et al. - European Journal of Medical Genetics 2008, 51(4):368-372
    Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay - Andrieux et al. - European Journal of Medical Genetics 2008, 51(4):373-381
    Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties - Glancy et al. - European Journal of Human Genetics advance online publication 20 August 2008
    Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome - McSweeney et al. - European Journal of Paediatric Neurology. Available online 21 August 2008.
    Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings - Jackowski et al. - European Journal of Paediatric Neurology. Available online 21 August 2008.
    Cognitive functioning in Williams Syndrome: A study in Portuguese and Spanish patients - Sampaio et al. - European Journal of Paediatric Neurology. Available online 15 August 2008.
    Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype - Marangi et al. - Am J Med Genet 2008, 146A(18):2313-2317
    Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array - Newkirk et al. - Am J Med Genet 2008, 146A(18):2346-2354
    Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features - Nowakowska et al. - Am J Med Genet 2008, 146A(18):2361-2369
    Williams syndrome in a preterm infant with phenotype of Alagille syndrome - Shah et al. - Am J Med Genet 2008, 146A(18):2307-2411
     
    CLINICAL SYNDROMOLOGY
    Homozygous Myotonic Dystrophy With Craniosynostosis -- Cerghet et al. - J Child Neurol 2008, 23(8):930-933.
    Diagnosis and etiology of congenital muscular dystrophy -- Peat et al. - Neurology 2008, 71(5): 312-321.
    SPG11 compound mutations in spastic paraparesis with thin corpus callosum -- Samaranch et al. - Neurology 2008, 71(5): 332-336.
    Evidence of depressive symptoms in fragile-X syndrome premutated females - Rodriguez-Revenga et al. - Psychiatr Genet. 2008; 18(4):153-5.
    Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder - Garsia-Nonell et al. - Am J Med Genet A. 2008; 146A(15):1911-16.
    Aging in people with specific genetic syndromes: Rett syndrome - Halbach et al. - Am J Med Genet A. 2008; 146A(15):1925-32.
    Genetic disorders associated with macrocephaly - Williams et al. - Am J Med Genet A. 2008; 146A(15):2023-37.
    Congenital Long-QT Syndrome Concealed by Hypercalcemia in Williams Syndrome - Czosek and Berul - J Cardiovasc Electrophysiol. 2008 Jul 25. [Epub ahead of print]
    Double outlet right ventricle: aetiologies and associations -- Obler et al. - J Med Genet 2008; 45(8): 481-497.
    FMR1-Related Disorders - Saul and Tarleton - GeneReviews
    Yellow Nail Syndrome: Analysis of 41 Consecutive Patients -- Maldonado et al. - Chest 2008, 134(2):375–381.
    Functional genetic polymorphisms and female reproductive disorders: Part I: polycystic ovary syndrome and ovarian response -- Simoni et al. - Hum Reprod Update 2008, 14(5): 459-484
    Familial syndromes coupling with small renal masses - Hidalgo and Chéchile - Adv Urol. 2008:413505.
    Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey - Bailey et al. - Am J Med Genet Part A 2008, 146A(16):2060-2069.
    Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis - Greco et al. - Arch Neurol. 2008; 65(8):1114-6. Evidence of depressive symptoms in fragile-X syndrome premutated females - Rodriguez-Revenga et al. - Psychiatric Genetics 2008, 18(4):153-155
    A review of known imprinting syndromes and their association with assisted reproduction technologies -- Amor and Halliday, - Hum. Reprod. Advance Access published online on August 14, 2008
    10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach - Sofocleous et al. - In Vivo. 2008; 22(4):451-5.
    Differential diagnosis of congenital muscular dystrophies - Klein et al. - European Journal of Paediatric Neurology 2008, 12(5):371-377
     
    Dysmetabolic Syndromes
    Enzyme replacement therapy for infantile-onset pompe disease: curse or cure? - Willems et al. - Neurology 2008; 71(5):380-1
    Gitelman syndrome - Knoers and Levtchenko - Orphanet Journal of Rare Diseases 2008, 3:22
    A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease -- Di Rocco et al. - Haematologica 2008, 93(8): 1211-1218.
    A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B -- McGovern et al. - Pediatrics 2008; 122(2): e341-e349.
    L-2-Hydroxyglutaric Aciduria and Brain Tumors in Children with Mutations in the L2HGDH Gene: Neuroimaging Findings - Haliloglu et al. - Neuropediatrics 2008; 39(2):119-22.
    Krabbe Disease - Wenger DA. - GeneReviews
    Glycogen Storage Disease Type II (Pompe Disease) - Tinkle and Leslie - GeneReviews
    Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging -- Bizzi et al. - Am J Neuroradiol 2008, 29(7): 1270-1275
    Fabry;s disease presenting as ventricular tachycardia and Left Ventricular Hypertrophy; -- Joshi et al. - Eur J Echocardiogr 2008, 9(5):697-699
    Last update: 29 August 2008. Mucolipidosis II - Leroy et al. - GeneReviews
    Mucolipidosis III Alpha/Beta - Leroy et al. - GeneReviews
    Alpha-Mannosidosis - Malm and Nilssen - GeneReviews
    Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome - Taha et al. - J Pediatr Endocrinol Metab. 2008; 21(6):581-6. Peters-plus syndrome is a congenital disorder of glycosylation caused by a defect in the 1,3-glucosyltransferase that modifies thrombospondin type 1 repeats - Heinonen aand Maumlki - Annals of Medicine, First Published on: 14 August 2008
    Berardinelli syndrome. A case report with fatal outcome - Daher et al. - Invest Clin. 2008; 49(2):251-5.
    Dyshistogenetic Syndromes
    APC-Associated Polyposis Conditions - Burt and Jasperson - GeneReviews
    Ehlers-Danlos Syndrome, Classic Type - Wenstrup and De Paepe - GeneReviews
    Intracranial Hypertension in 2 Children With Marfan Syndrome -- Hilhorst-Hofstee et al. - J Child Neurol 2008, 23(8):954-955.
    Griscelli Syndrome Type 2: A Rare and Lethal Disorder -- Masri et al. - J Child Neurol 2008, 23(8):964-967.
    Hemiarch aortic replacement for acute type A dissection in a Marfan patient with twin pregnancy -- Pagni et al. - Interact CardioVasc Thorac Surg 2008; 7(4):740-741.
    Megalencephalic Leukoencephalopathy with Subcortical Cysts - van der Knaap and Scheper - GeneReviews
    Hermansky-Pudlak syndrome 5 - Birth Defects Images
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency - Birth Defects Images
    Ectodermal dysplasia/skin fragility syndrome - Birth Defects Images
    Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis - Krakow et al. - Am J Med Genet A. 2008; 146A(15):1917-24.
    Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia - Baradaran-Heravi et al. - Am J Med Genet A. 2008; 146A(15):2013-17(Letter)
    Campomelic Dysplasia - Unger et al. - GeneReviews
    General anesthesia using remifentanil for Cesarean delivery in a parturient with Marfan's syndrome: [Anesthesie generale avec du remifentanil pour un accouchement par cesarienne chez une parturiente souffrant du syndrome de Marfan] -- Singh et al. - Can J Anesth 2008, 55(8): 526-531. Craniodiaphyseal dysplasia - Birth Defects Images
    Weill-Marchesani syndrome - Birth Defects Images
    Neurodegeneration in xeroderma pigmentosum -- Taylor AMR. - Brain 2008, 131(8):1967-1968
    Neurological symptoms and natural course of xeroderma pigmentosum -- Anttinen et al. - Brain 2008, 131(8):1979-1989
    Spondyloepimetaphyseal dysplasia, Genevieve type - Birth Defects Images
    Spondyloepimetaphyseal dysplasia, Strudwick type - Birth Defects Images
    Carney complex variant - Birth Defects Images
    Pyle disease - Birth Defects Images
    Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa - Neilan et al. - Arch Neurol. 2008; 65(8):1117-1121.
    Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on Research in Marfan Syndrome and Related Disorders - Pearson et al. - Circulation 2008; 118(7):785-791
    Multiple endocrine neoplasia syndromes - Callender et al. - Surg Clin North Am. 2008; 88(4):863-95.
    Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome - Al-Sukhni et al. - Surg Clin North Am. 2008; 88(4):819-44.
    Fatal aortic dissection in a patient with a family history of marfan syndrome - Birsner et al. - Obstet Gynecol. 2008; 112(2):472-5.
    Epidermolysis Bullosa Simplex - Pfendner and Bruckner - GeneReviews Monozygotic twins discordant for Proteus syndrome - Brockmann et al. - Am J Med Genet Part A 2008, 146A(16):2122-2125.
    Marshall-Smith syndrome and septo-optic dysplasia: An unreported association - Travan et al. - Am J Med Genet Part A 2008, 146A(16):2138-2140. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families - Lexner et al. - Clinical Genetics 2008, 74(3):252-259
    Perianesthetic management of generalized congenital cutis laxa syndrome associated with pulmonary stenosis undergoing inguinal hernia repair - Pandey et al. - Pediatric Anesthesia 2008, 18(9):907-909 (No abstract)
    Tumor histology helps to identify Lynch syndrome among colorectal cancer patients - Truta et al. - Familial Cancer 2008, 7(3):267-274
    Early impairment of left ventricular long-axis systolic function demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome -- Kiotsekoglou et al. - Eur J Echocardiogr 2008, 9(5):605-613
    Aicardi–Goutières syndrome (AGS) - Stephenson JBP - European Journal of Paediatric Neurology 2008, 12(5):355-358
    Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy - Orcesi et al. - European Journal of Paediatric Neurology 2008, 12(5):408-411
    Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study -- O’Callaghan et al. - Arch Dis Child 2008; 93(9):751-754.
    Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype - van Roij et al. - Am J Med Genet 2008, 146A(18):2376-2384
    The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US - Waller et al. - Am J Med Genet 2008, 146A(18):2385-2389
    Last update: 29 August 2008. Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction -- Bockenhauer et al. - Clin J Am Soc Nephrol 2008, 3(5): 1430-1436.
    Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile -- Lourenço et al. - Eur J Endocrinol 2008, 159(3): 259-274.
    Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness): Clinical and genetic study -- d'Annunzio et al. - Diabetes Care 2008, 31(9): 1743-1745.
    Prophylactic aortic root surgery in patients with Marfan syndrome: 10 years' experience with a protocol based on body surface area -- Aalberts et al. - Eur J Cardiothorac Surg 2008; 34(3):589-594.
    Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type - Van Maldergem et al. - Neurology. 2008 Aug 20. [Epub ahead of print]
    Malformation Syndromes
    Otopalatodigital Spectrum Disorders - Robertson S. - GeneReviews
    Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly -- Pisano et al. - J Child Neurol 2008, 23(8):916-918.
    Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family -- Amador et al. - J Child Neurol 2008, 23(8): 901-905.
    Timothy Syndrome - Splawski et al. - GeneReviews
    Hydrolethalus Syndrome: Neuropathology of 21 Cases Confirmed by HYLS1 Gene Mutation Analysis - Paetau et al. - J Neuropathol Exp Neurol. 2008 Jul 21. [Epub ahead of print]
    COFS syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation - Laugel et al. - J Med Genet. 2008 Jul 15. [Epub ahead of print]
    Clinical variability in acro-cardio-facial-syndrome - Karimineajad et al. - Am J Med Genet A. 2008; 146A(15):1977-79.
    Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation? - Guazzarotti et al. - Am J Med Genet A. 2008; 146A(15):2001-2004 (Letter)
    Lenz microphthalmia syndrome - Birth Defects Images
    Oculofaciocardiodental syndrome - Birth Defects Images
    Anophthalmia-esophageal-genital syndrome - Birth Defects Images
    Dauwerse-Peters syndrome - Birts Defects Images
    Fibular hypoplasia and complex brachydactyly - Births Defects Images
    Temtamy preaxial brachydactyly syndrome - Birth Defects Images
    Abnormal Growth in Noonan Syndrome: Genetic and Endocrine Features and Optimal Treatment - Padidela et al. - Horm Res. 2008; 70(3):129-136. Radiological evolution in IMAGe association: A case report - Amano et al. - Am J Med Genet Part A 2008, 146A(16):2130-2133.
    Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient - de Carvalho et al. - Am J Med Genet Part A 2008, 146A(16):2134-2137. Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome) - Konstantinidou et al. - Birth Defects Research (Part A) 2008, 82(8):601-604
    Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study - Laccone et al. - Clinical Genetics 2008, 74(3):279-283
    Herlyn-Werner-Wunderlich syndrome with pregnancy: A rare presentation - Rana et al. - Congenital Anomalies 2008, 48(3):142-143
    Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion -- Blustajn et al. - Am J Neuroradiol 2008, 29(7): 1266-1269
    Tumor development in three patients with Noonan syndrome - Fryssira et al. - European Journal of Pediatrics 2008, 167(9):1025-1031
    Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature - Schell-Apacik et al. - European Journal of Pediatrics 2008, 167(9):1057-1062
    Last update: 29 August 2008. VLDLR-Associated Cerebellar Hypoplasia - Boycott and Parboosingh - GeneReviews
    Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11 -- Noordam et al. - Eur J Endocrinol 2008, 159(3): 203-208.
    Donnai-Barrow Syndrome -Kantarci et al. - GeneReviews
     
     
    NEW SYNDROMES
    Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation - Glik et al. - Mov Disord. 2008 Jul 25. [Epub ahead of print]
    Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family - Martelli-Junior et al. - J Periodontol. 2008; 79(7):1287-96.
    Nephronophthisis-like nephritis associated with fibrous dysplasia of bone - Bacchetta et al. - Pediatr Nephrol. 2008; 23(9):1559-63.
    Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability - Simha et al. - Am J Med Genet 2008, 146A(18):2318-2326 
    Last update: 29 August 2008. Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? -- Castro-Feijóo et al. - Eur J Endocrinol 2008, 159(3): 243-249.  
     
    PRENATAL SYNDROMOLOGY
    Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome -- Griffiths et al. - Clin Chem 2008, 54(8): 1317-1324.
    Prader-Willi syndrome: is there a recognizable fetal phenotype? - Bigi et al. - Prenat Diagn. 2008 Jul 25. [Epub ahead of print]
    Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D - Kuniba et al. - Am J Med Genet A. 2008 Jul 18. [Epub ahead of print]
    Holoprosencephaly: An Antenally-diagnosed Case Series and Subject Review - Lim et al. - Ann Acad Med Singapore. 2008; 37(7):594-4.
    Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch - Law and Tse - Hong Kong Med J. 2008; 14(4):317-20.
     
    TERATOLOGY
     
    Clinical Teratology
    Effects of Prenatal Cocaine Exposure on Special Education in School-Aged Children -- Levine et al. - Pediatrics 2008; 122(1): e83-e91.
    Maternal urinary tract infections and selected cardiovascular malformations - Cleves et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2008, 82(6):464-473
    Mycophenolate mofetil embryopathy may be dose and timing dependent - Ghee Soon Ang et al. - Am J Med Genet A. 2008; 146A(15):1963-66.
    Maternal Smoking During Pregnancy, Other Prenatal and Perinatal Factors, and the Risk of Legg-Calve-Perthes Disease -- Bahmanyar et al. - Pediatrics 2008; 122(2): e459-e464.
    Maternal Phenylketonuria -- Committee on Genetics - Pediatrics 2008; 122(2): 445-449.
    Birth Defects among Infants Born to Women Who Received Anthrax Vaccine in Pregnancy -- Ryan et al. - Am. J. Epidemiol. 2008, 168(4): 434-442
    Pierre Robin sequence associated with first trimester fetal tamoxifen exposure - Berger and Clericuzio - Am J Med Genet Part A 2008, 146A(16):2141-2144.
    Fetal alcohol spectrum disorder: counting the invisible - mission impossible? -- Chudley AE. - Arch Dis Child 2008; 93(9):721-722.
    Fetal alcohol syndrome: a prospective national surveillance study -- Elliott et al. - Arch Dis Child 2008; 93(9):732-737.
    Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case-control study - Barber et al. - Am J Med Genet 2008, 146A(18):2390-2395
    Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft - Chevrier et al. - Am J Med Genet 2008, 146A(18):2396-2406
    Last update: 29 August 2008. Maternal Smoking during Pregnancy and Childrens Cognitive and Physical Development: A Causal Risk Factor? -- Gilman et al. 168 (5): 522 -- American Journal of Epidemiology - Gilman et al. - Am. J. Epidemiol. 2008, 168(5): 522-531
     
    GENETIC PREVENTION
     
    Genetic Counselling
    Prediction of individual genetic risk of complex disease - Wray et al. - Curr Opin Genet Dev. 2008 Aug 2. [Epub ahead of print]
    Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes. A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology - Allain DC. - J Mol Diagn. 2008 Aug 7. [Epub ahead of print]
    Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome - Peterson et al. - Psychooncology 2008; 17(8):783-789.
    Diversity in Genetic Counseling: Past, Present and Future - Mittman and Downs - Journal of Genetic Counseling 2008, 17(4):301-313
    A Qualitative Description of Receiving a Diagnosis of Clefting in the Prenatal or Postnatal Period - Nusbaum et al. - Journal of Genetic Counseling 2008, 17(4):336-350
    Last update: 29 August 2008. Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes: A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology -- Allain DC. - J Mol Diagn 2008, 10(5): 383-395
    Prenatal Screening
    First-Trimester and Second-Trimester Screening at a Community Hospital: Experience From the First Year of Implementation -- Philipson et al. - Obstetrics & Gynecology 2008; 112(8):218-222
    Maternal Biochemical Serum Screening for Down Syndrome in Pregnancy With Human Immunodeficiency Virus Infection -- Le Meaux et al. - Obstet Gynecol 2008, 112(8): 223-230.
    Maternal Global Methylation Status and Risk of Congenital Heart Diseases -- van Driel et al. - Obstet Gynecol 2008, 112(8): 277-283.
    Maternal Biochemical Serum Screening for Down Syndrome in Pregnancy With Human Immunodeficiency Virus Infection - Le Meaux et al. - Obstet Gynecol. 2008; 112(2):223-230.
    New molecular techniques for the prenatal detection of chromosomal aneuploidy - Sparkes et al. - J Obstet Gynaecol Can. 2008; 30(7):617-21.
    Application of proteomics for the identification of differentially expressed protein markers for Down syndrome in maternal plasma - Kolialexi et al. - Pranatal Diagnosis 2008, 28(8):691-698
    Maternal serum screening in cases of mosaic and translocation Down syndrome - Dreux et al. - Prenatal Diagnosis 2008, 28(8):699-703
    Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free {beta}-hCG and pregnancy-associated plasma protein-A -- Kagan et al. - Hum. Reprod. 2008, 23(9):1968-1975
     
    Neonatal Screening
    Pediatric Residents Use of Jargon During Counseling About Newborn Genetic Screening Results -- Farrell et al. - Pediatrics 2008; 122(2): 243-249.
    Birth prevalence of congenital hypothyroidism in Mexico - Rendon-Macias et al. - Paediatric and Perinatal Epidemiology 2008, 22(5):478-485
    Newborn Screening for Pompe Disease by Measuring Acid {alpha}-Glucosidase Activity Using Tandem Mass Spectrometry -- Dajnoki et al., - Clin Chem published 14 August 2008
    Corrected 17-Alpha-Hydroxyprogesterone Values Adjusted by a Scoring System for Screening Congenital Adrenal Hyperplasia in Premature Infants -- Lee et al. - Ann Clin Lab Sci 2008, 38(3):235-240.
    Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry -- Zhang et al., - Clin Chem published 21 August 2008
     
    Genetic Testing
    A decision analysis model for diagnostic strategies using DNA testing for hereditary haemochromatosis in at risk populations -- Cooper et al. - QJM 2008, 101(8): 631-641
    Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes. A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology - Allain DC. - J Mol Diagn. 2008 Aug 7. [Epub ahead of print]
    Hereditary Hemochromatosis: Time for Targeted Screening -- Phatak et al. - Annals of Internal Medicine 2008, 149(4):270-272
    Last update: 29 August 2008. Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes: A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology -- Allain DC. - J Mol Diagn 2008, 10(5): 383-395
     
    Preimplantation Diagnosis
    Derivation of Euploid Human Embryonic Stem Cells from Aneuploid Embryos -- Lavon et al. - Stem Cells 2008, 26(7):1874 - 1882
    Last update: 29 August 2008. Preimplantation genetic diagnosis for familial hypercholesterolaemia: a commentary on the recent HFEA decision -- Boddington and Parker - Clin Ethics 2008, 3(3): 145-148

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