Work Space for Clinical Geneticists

Новый реферат от 30.11.2008

Genetic Center
Filatov's Child Clinical Hospital © 2001-2008
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:

The most recent articles published online

December 01, 2008

HUMAN GENETICS (General Aspects)

• The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development - Chaudhari et al. - Clinical Genetics 2008, 74(6):493-501
• Genomics and Clinical Medicine, Edited by Dhavendra Kumar and David Weatherall 672 pp, $175.50 New York, NY, Oxford University Press, 2008 [ JAMA 2008, 300(20):2430-31 - Douglas R. Stewart, MD, Reviewer ]
• Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders - Laroche et al. - Psychiatr Genet. 2008; 18(6):295-301.
• Genetics of autism - Freitag CM. - J Intellect Disabil Res. 2008; 52(10):817.
• A Genome-Wide Association Study of Schizophrenia Using Brain Activation as a Quantitative Phenotype - Potkin et al. - Schizophr Bull. 2008 Nov 20. [Epub ahead of print]
• A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 -- Knight et al. - Hum. Mol. Genet. 2008, 17(24): 3847-3853 (Free Full Text)
• Association of the ACTN3 Genotype and Physical Functioning With Age in Older Adults -- Delmonico et al. - J Gerontol A Biol Sci Med Sci 2008, 63(11): 1227-1234.
• A Functional Genetic Link between Distinct Developmental Language Disorders - Vernes et al. - NEJM 2008, 359(22):2337-2345
• The Genetics of Speech and Language Impairments - Stromswold K. - NEJM 2008, 359(22):2381-2383 (Editorial)
• Progress in Pharmacogenomics and Its Promise for Medicine -- Blake and Sobel - Experimental Biology and Medicine 2008, 233(12): 1482-1483.
• The Role of Pharmacogenetics in Treating Central Nervous System Disorders -- Patnaik et al. - Experimental Biology and Medicine 2008, 233(12): 1504-1509.
• Association of Genetic Polymorphisms in Vitamin D Receptor Gene and Susceptibility to Sporadic Prostate Cancer -- Onen et al. - Experimental Biology and Medicine 2008, 233(12): 1608-1614.
• Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis - Weissman et al. - PLoS ONE 3(11): e3815 (Free Full Text)
• Genetic Isolates in Ophthalmic Diseases - Sherwin et al. - Ophthalmic Genetics 2008, 29(4):149-161
• Molecular Mechanism of DNA Deadenylation by the Neurological Disease Protein Aprataxin -- Rass et al. - J. Biol. Chem. 2008, 283(49): 33994-34001.
• Genetic variation at the 9p21 locus predicts angiographic coronary artery disease prevalence but not extent and has clinical utility - Anderson et al. - Am Heart J. 2008; 156(6):1155-1162.e2.
• The biology of infertility: research advances and clinical challenges - Matzuk and Lamb - Nature Medicine 2008, 14(11):1197-1213

DYSMORPHOLOGY

• 2008 Congenital Malformations Surveillance Report: A Report from the National Birth Defects Prevention Network (Part I): Special Issue - Issue Edited by Julianne S. Collins, Russell S. Kirby - Birth Defects Research Part A: Clinical and Molecular Teratology 2008, 82(11) - Table of Content
• Parental age as a risk factor for isolated congenital malformations in a Polish population - Materna-Kiryluk et al. - Paediatric and Perinatal Epidemiology 2009, 23(1):29-40

Molecular Dysmorphology

• Novel mutations in DSG1 causing striate palmoplantar keratoderma - Hershkovitz et al. - Clin Exp Dermatol. 2008 Nov 6. [Epub ahead of print]
• Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4 - Steichen-Gersdorf et al. - Clinical Genetics 2008, 74(6):560-565
• Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA -- Suzuki et al. - J. Exp. Med. 2008, 205(12): 2703-2710.
• Pulmonary alveolar proteinosis caused by deletion of the GM-CSFR{alpha} gene in the X chromosome pseudoautosomal region 1 -- Martinez-Moczygemba et al. - J. Exp. Med. 2008, 205(12): 2711-2716.
• Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice -- Segditsas et al. - Hum. Mol. Genet. 2008, 17(24): 3864-3875 (Free Full Text)
• Mutations in the human SIX3 gene in holoprosencephaly are loss of function -- Domené et al. - Hum. Mol. Genet. 2008, 17(24): 3919-3928
• Mutations in the calcium-related gene IL1RAPL1 are associated with autism -- Piton et al. - Hum. Mol. Genet. 2008, 17(24): 3965-3974
• WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon -- Zalloua et al. - Hum. Mol. Genet. 2008, 17(24): 4012-4021
• Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene -- Sandberg et al. - Investigative Ophthalmology & Visual Science 2008, 49(12): 5532-5539.
• Pkd1 Inactivation Induced in Adulthood Produces Focal Cystic Disease -- Takakura et al. - J Am Soc Nephrol 2008, 19(12): 2351-2363.
• Timing of Egf Treatment Differentially Affects Tgf-{beta}2 Induced Cranial Suture Closure -- Rawlins et al. - Experimental Biology and Medicine 2008, 233(12): 1518-1526.
• Apoptosis in lung injury and fibrosis -- Drakopanagiotakis et al. - Eur Respir J 2008, 32(6): 1631-1638.
• The role of apoptosis in pulmonary fibrosis -- Uhal BD. - EUROPEAN RESPIRATORY REVIEW 2008, 17(109): 138-144.
• Role of endothelin in lung fibrosis -- Abraham D. - EUROPEAN RESPIRATORY REVIEW 2008, 17(109): 145-150.
• The role of chemokines and cytokines in lung fibrosis -- Keane MP. - EUROPEAN RESPIRATORY REVIEW 2008, 17(109): 151-156.
• Gene expression profiling: can we identify the right target genes? -- Loyd JE. - EUROPEAN RESPIRATORY REVIEW 2008, 17(109): 163-167.
• Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis - Nielsen et al. - Gastroenterology. 2008 Oct 30. [Epub ahead of print]
• Testis-specific linker histone H1T is multiple-phosphorylated during spermatogenesis: Identification of phosphorylation sites -- Sarg et al., - J. Biol. Chem. published 29 November 2008
• Revisiting the Molecular Structure of Collagen - Okuyama K. - Connective Tissue Research 2008, 49(5):299-310
• Transforming Growth Factor-α and Nonsyndromic Cleft Lip With or Without Palate or Cleft Palate Only in Kelantan, Malaysia - Rahman et al. - The Cleft Palate-Craniofacial Journal 2008, Vol. 45, No. 6, pp. 583–586.
• Mutation spectrum in HNPCC in the Israeli population - Goldberg et al. - Familial Cancer 2008, 7(4):309-317
• GATA4 mutations in 486 Chinese patients with congenital heart disease - Zhang et al. - European Journal of Medical Genetics 2008, 51(6):527-535
• Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis - Han et al. - European Journal of Medical Genetics 2008, 51(6):536-546
• T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease - Liu et al. - European Journal of Medical Genetics 2008, 51(6):580-587

Epidemiology of the Birth Defects

• HIRSCHSPRUNG'S DISEASE: A REGIONAL EXPERIENCE - Kon et al. - ANZ Journal of Surgery 2008, 78(11):1023-1027
• The prevalence and predictors of anencephaly and spina bifida in Texas - Canfield et al. - Paediatric and Perinatal Epidemiology 2009, 23(1):41-50
• Descriptive epidemiology of congenital heart disease in Northern England - Dadvand et al. - Paediatric and Perinatal Epidemiology 2009, 23(1):58-65

 

Nonsyndromic Birth Defects

• Congenital agenesis of pubic bones: a case report - Yildiz and Yurttas - Journal of Pediatric Orthopaedics B. 2008, 17(6):299-300
• Congenital pseudarthrosis of the fibula and valgus deformity of the ankle in young children - Lampasi et al. - Journal of Pediatric Orthopaedics B. 2008, 17(6):315-321
• Congenital Stromal Corneal Dystrophy - Rødahl et al. - GeneReviews
• Differences in Aneurysm and Patient Characteristics Between Cohorts of Finnish and Dutch Patients With Subarachnoid Hemorrhage: Time Trends Between 1986 and 2005 -- van Munster et al. - Stroke 2008; 39(12):3166-3171
• Patterns of Brain Arteriovenous Malformation Treatment: Prospective, Population-Based Study -- van Beijnum et al. - Stroke 2008; 39(12):3216-3221
• The classification, natural history and radiological/histological appearance of idiopathic pulmonary fibrosis and the other idiopathic interstitial pneumonias -- Raghu et al. - EUROPEAN RESPIRATORY REVIEW 2008, 17(109): 108-115.
• Impact of omphalocele size on associated conditions - Kumar et al. - J Ped Surg 2008, 43(12):2216-2219
• Total colonic aganglionosis with or without small bowel involvement: a 30-year retrospective nationwide survey in Japan - Ieiri et al. - J Ped Surg 2008, 43(12):2226-2230
• Genetic Risk Factors of Bronchopulmonary Dysplasia - Kwinta et al. - Pediatric Research 2008, 64(6):682-688
• Genetic Risk Factors of Bronchopulmonary Dysplasia - Kwinta et al. - Pediatric Research 2008, 64(6):682-688 (Free Full Text)
• A New Grading of Pierre Robin Sequence - Cole et al. - The Cleft Palate-Craniofacial Journal 2008, Vol. 45, No. 6, pp. 603–606.
• Susceptibility loci for intracranial aneurysm in European and Japanese populations - Bilguvar et al. - Nature Genetics 2008, 40(12):1472-1477 (Letter)
• ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation - Yeste et al. - European Journal of Pediatrics 2009, 168(1):65-69

SYNDROMOLOGY

• Paternal care and imprinting: Of wolves and men: the role of paternal child care in the evolution of genomic imprinting - Horsthemke B. - European Journal of Human Genetics advance online publication 26 November 2008

Molecular Syndromology

• The dot and fleck retinopathy of X-linked Alport sydnrome is independent of complement factor H (CFH) gene polymorphisms - Liu et al. - Br J Ophthalmol. 2008 Nov 19. [Epub ahead of print]
• LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients - Oliveira et al. - Clinical Genetics 2008, 74(6):502-512
• MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome - Hertz et al. - Clinical Genetics 2008, 74(6):522-530
• Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes - Gervasini et al. - Clinical Genetics 2008, 74(6):531-538
• Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme - Kutz et al. - Human Mutation 2008, 29(12):1425-1434
• CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta - Baldridge et al. - Human Mutation 2008, 29(12):1435-1442
• Association of aplastic anaemia and Fanconi's disease with HLA-DRB1 alleles - Yari et al. - International Journal of Immunogenetics 2008, 35(6):453-456
• Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1 - Seifert et al. - Human Mutation, Published Online: 12 Nov 2008
• Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature - Callewaert et al. - Human Mutation, Published Online: 12 Nov 2008
• First Evidence of Genetic Association Between AKT2 and Polycystic Ovary Syndrome -- Goodarzi et al. - Diabetes Care 2008, 31(12): 2284-2287.
• Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA - Pera et al. - PNAS 2008, 105(47):18608-18613 (Free Full Text)
• CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome - Jongmans et al. - Clin Genet. 2008 Nov 17. [Epub ahead of print]
• Association of common variants in the Joubert syndrome gene (AHI1) with autism -- Alvarez Retuerto et al. - Hum. Mol. Genet. 2008, 17(24): 3887-3896
• Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease -- Raben et al. - Hum. Mol. Genet. 2008, 17(24): 3897-3908
• Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli -- Pitera et al. - Hum. Mol. Genet. 2008, 17(24): 3953-3964 (Free Full Text)
• hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome -- Masuda et al. - Hum. Mol. Genet. 2008, 17(24): 4022-4035
• Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases -- Wang et al. - Hum. Mol. Genet. 2008, 17(24): 4036-4044
• A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease - Yassin et al. - J Appl Genet. 2008; 49(4):421-424 (Free Full Text)
• Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment - Schneider et al. - Hum Mol Genet. 2008 Nov 20. [Epub ahead of print]
• An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome - Bhuiyan et al. - Prog Biophys Mol Biol. 2008 Nov 5. [Epub ahead of print]
• Transcription Enhancer Factor 3 (TEF3) Mediates the Expression of Down Syndrome Candidate Region 1 Isoform 1 (DSCR1-1L) in Endothelial Cells -- Liu et al. - J. Biol. Chem. 2008, 283(49): 34159-34167
• Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease -- Tagliabracci et al. - J. Biol. Chem. 2008, 283(49): 33816-33825.
• Suppression of Proliferative Defects Associated with Processing-defective Lamin A Mutants by hTERT or Inactivation of p53 -- Kudlow et al. - Mol. Biol. Cell 2008, 19(12): 5238-5248.
• Clinical guidelines versus universal molecular testing: are we ready to choose an optimal strategy for lynch syndrome identification? - Byfield and Syngal - Am J Gastroenterol. 2008; 103(11):2837-40.
• Molecular genetics of Alzheimer's disease: An update - Brouwers et al. - Annals of Medicine 2008, 40(8):562-583
• Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland - Sankelo et al. - Acta Oto-Laryngologica 2008, 128(11):1238-1241
• Ghrelin concentrations in Prader–Willi syndrome (PWS) infants and children: changes during development - Haqq et al. - Clinical Endocrinology 2008, 69(6):911-920
• Gerodermia osteodysplastica is caused by mutations in : SCYL1BP1: , a Rab-6 interacting golgin - Hennies et al. - Nature Genetics 2008, 40(12):1410-1412
• Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium - Lloyd-Evans et al. - Nature Medicine 2008, 14(11):1247-1255
• Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib - Chen et al. - Molecular Genetics and Metabolism 2008, 95(4):220-223
• Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease - Erdos et al. - Molecular Genetics and Metabolism 2008, 95(4):224-228
• Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions - Trevisan et al. - European Journal of Neurology 2008, 15(12):1353-1358
• A 8.26 Mb deletion in 6q16 and a 4.95 Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome - Le Gloan et al. - European Journal of Medical Genetics 2008, 51(6):651-657
• A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’ - Blyth et al. - European Journal of Medical Genetics 2008, 51(6):762-678

Animal Models of Human Syndromes

• Molecular responses of the Ts65Dn and Ts1Cje mouse models of Down syndrome to MK-801 - Siddiqui et al. - Genes, Brain and Behavior 2008, 7(7): 810-820
• Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin -- Banks et al. - Hum. Mol. Genet. 2008, 17(24): 3975-3986
• Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease -- Moosajee et al. - Hum. Mol. Genet. 2008, 17(24): 3987-4000
• Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease -- Pello et al. - Hum. Mol. Genet. 2008, 17(24): 4001-4011
• A Crucial Role for Primary Cilia in Cortical Morphogenesis -- Willaredt et al. - J. Neurosci. 2008, 28(48): 12887-12900
• Modelling Down syndrome - Buckley F. - Downs Syndr Res Pract. 2008; 12(2):98-102 (Free Full Text)
• Absence of the SRC-2 Coactivator Results in a Glycogenopathy Resembling Von Gierke's Disease -- Chopra et al. - Science 2008, 322 (5906): 1395-1399
• The Catch-22 of Aging -- Zelkowitz R. - ScienceNOW, 26 November 2008

 

CHROMOSOMAL ANOMALIES

Chromosomal Disorders: Well-Known Syndromes

• Trisomy 21 enhances human fetal erythro-megakaryocytic development - Chou et al. - Blood 2008, 112(12): 4503-4506.
• Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations - Tunstall-Pedoe et al. - Blood 2008, 112(12): 4507-4511.
• Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects - Freeman et al. - Clin Genet. 2008 Nov 17. [Epub ahead of print]
• Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome - Premi et al. - PLoS ONE 2008; 3(11):e3796 (Free Full Text)
• Mosaic cri-du-chat syndrome in a girl with a mild phenotype - de Azevedo Moreira et al. - J Appl Genet. 2008; 49(4):415-420 (Free Full Text)
• Precise descriptions of Down syndrome - Buckley SJ. - Down Syndrome Research and Practice 2008; 12(2);90-90.
• Cholesterol and Alzheimer type dementia among adults with Down syndrome - Buckley F. - Down Syndrome Research and Practice 2008; 12(2);91-91.
• QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG - Pozza et al. - European Journal of Pediatrics 2009, 168(1):59-64
• The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl - Rittinger et al. - European Journal of Medical Genetics 2008, 51(6):573-579
• Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21 - Cardoso et al. - European Journal of Medical Genetics 2008, 51(6):588-597

Microdeletion-Microduplication syndromes

• Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome -- Bassett et al. - Hum. Mol. Genet. 2008, 17(24): 4045-4053
• Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps - Jamsheer et al. - J Appl Genet. 2008; 49(4):397-405 (Free Full Text)
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities - Brunetti-Pierri et al. - Nature Genetics 2008, 40(12):1466-1471 (Letter)
• Clinical variability of the 22q11.2 duplication syndrome - Wentzel et al. - European Journal of Medical Genetics 2008, 51(6):501-510
• Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities - Faas et al. - European Journal of Medical Genetics 2008, 51(6):511-519
• A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients - Lund et al. - European Journal of Medical Genetics 2008, 51(6):520-526
• Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall - Carelle-Calmels et al. - European Journal of Medical Genetics 2008, 51(6):547-557
• Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation - Doco-Fenzy et al. - European Journal of Medical Genetics 2008, 51(6):598-607
• M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism - Behjati et al. - European Journal of Medical Genetics 2008, 51(6):608-614
• A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures - Busche et al. - European Journal of Medical Genetics 2008, 51(6):615-621
• Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical data and molecular characterization - Schluth-Bolard et al. - European Journal of Medical Genetics 2008, 51(6):622-630
• A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea - Rossi et al. - European Journal of Medical Genetics 2008, 51(6):631-638
• Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases - Tempesta et al. - European Journal of Medical Genetics 2008, 51(6):639-645
• 1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype - Rødningen et al. - European Journal of Medical Genetics 2008, 51(6):646-650
• Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly - Ginocchio et al. - European Journal of Medical Genetics 2008, 51(6):658-665
• 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development - Gohring et al. - European Journal of Medical Genetics 2008, 51(6):666-671
• Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma - Isidor et al. - European Journal of Medical Genetics 2008, 51(6):679-684
• Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected - Cremer et al. - European Journal of Medical Genetics 2008, 51(6):685-688 (Letter)
• AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions - Poot et al. - European Journal of Medical Genetics 2008, 51(6):689-690 (No Abstract)

CLINICAL SYNDROMOLOGY

• Savings and extinction of conditioned eyeblink responses in fragile X syndrome - Smit et al. - Genes, Brain and Behavior 2008, 7(7):770-777
• Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction - Menezes and Vogel - Childs Nerv Syst. 2008; 24(10):1155-63.
• X-linked mental retardation - Lisik and Sieron - Med Sci Monit. 2008; 14(11):RA221-9.
• Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? - Diene et al. - Arch Dis Child. 2008; 93(12):1004-6 (No Abstract)
• Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency - Turul et al. - European Journal of Pediatrics 2009, 168(1):87-93

Dysmetabolic Syndromes

• Metachromatic leukodystrophy: an overview of current and prospective treatments - Biffi et al. - Bone Marrow Transplant. 2008; 42(Suppl 2):S2-6.
• Short-chain acyl-coenzyme A dehydrogenase deficiency - Jethva et al. - Molecular Genetics and Metabolism 2008, 95(4):195-200
• Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study - Case et al. - Molecular Genetics and Metabolism 2008, 95(4):233-235

Dyshistogenetic Syndromes

• The Vascular Type of Ehlers-Danlos Syndrome - Watanabe and Shimada - J Nippon Med Sch. 2008; 75(5):254-261 (Free Full Text)
• Surgery for Marfan Patients With Acute Type A Dissection Using a Stented Elephant Trunk Procedure -- Sun et al. - Ann Thorac Surg 2008; 86(6):1821-1825.
• Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review - Sulko and Kozlowski - J Pediatr Orthop B. 2008; 17(6):323-7.
• Statin Therapy and Cognitive Deficits Associated With Neurofibromatosis Type 1 - Jansen JFA. - JAMA 2008; 300(20):2369 (Letter)
• Stabilizing aortic tissue after aortic root surgery in Marfan syndrome -- Matt and Eckstein - Interact CardioVasc Thorac Surg 2008; 7(6):1166 (eComment)
• Giant left coronary ostial aneurysm after modified Bentall procedure in a Marfan patient -- Bockeria et al. - Interact CardioVasc Thorac Surg 2008;7(6):1166 (eComment)
• Microangiopathic complications in pseudoxanthoma elasticum -- Renard et al. - Neurology 2008, 71(22): e69.
• Vitreous Veils and Radial Lattice in Marshall Syndrome - Brubaker et al. - Ophthalmic Genetics 2008, 29(4):184-185
• Congenital generalized lipodystrophy: A case report with neurological involvement - Turkia et al. - Arch Pediatr. 2008 Nov 19. [Epub ahead of print] Article in French
• Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer - Myrhøj et al. - Familial Cancer 2008, 7(4):303-307

Malformation Syndromes

• Bardet-Biedl syndrome - Rooryck and Lacombe - Ann Endocrinol (Paris). 2008 Nov 17. [Epub ahead of print]
• Nevoid basal cell carcinoma syndrome (Gorlin syndrome) - Lorenzo Lo Muzio - Orphanet Journal of Rare Diseases 2008, 3:32
• The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome) - Barry and Reddy - Ophthalmic Genet. 2008; 29(4):177-80.
• Aicardi Syndrome in a Genotypic Male - Chappelow et al. - Ophthalmic Genetics 2008, 29(4):181-183
• Clinical and molecular characterization of 40 patients with Noonan syndrome - Ferrero et al. - European Journal of Medical Genetics 2008, 51(6):566-572

 

NEW SYNDROMES

• Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss - Nagamani et al. - Eur J Hum Genet. 2008 Nov 26. [Epub ahead of print]
• Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome - Capra et al. - Eur J Med Genet. 2008 Nov 6. [Epub ahead of print]
• Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement - Dursun et al. - Clin Dysmorphol. 2008 Nov 13. [Epub ahead of print]

PRENATAL SYNDROMOLOGY

• Campomelic Dysplasia: Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two Cases - massardier et al. - Fetal Diagn Ther. 2008; 24(4):452-457.

TERATOLOGY

• Challenges in Understanding Diabetic Embryopathy -- Loeken MR. - Diabetes 2008, 57(12): 3187 -3188 (Commentary)
• Maternal exposure to tobacco smoke, alcohol and caffeine, and risk of anorectal atresia: National Birth Defects Prevention Study 1997–2003 - Miller et al. - Paediatric and Perinatal Epidemiology 2009, 23(1):9-17
• Antibiotics potentially used in response to bioterrorism and the risk of major congenital malformations - Cooper et al. - Paediatric and Perinatal Epidemiology 2009, 23(1):18-28
• Intrauterine Exposure to Alcohol and Tobacco Use and Childhood IQ: Findings from a Parental-Offspring Comparison within the Avon Longitudinal Study of Parents and Children - Alati et al. - Pediatric Research 2008, 64(6):659-666
• Maternal smoking during pregnancy and multiple sclerosis amongst offspring - Montgomery et al. - European Journal of Neurology 2008, 15(12):1395-1399

 

Experimental Teratology

• Decreased Cardiac Glutathione Peroxidase Levels and Enhanced Mandibular Apoptosis in Malformed Embryos of Diabetic Rats -- Wentzel et al. - Diabetes 2008, 57(12): 3344 -3352.

 

GENETIC PREVENTION

• Folate metabolism and the risk of Down syndrome - Patterson D. - Down Syndrome Research and Practice 2008; 12(2);93-97.

 

Prenatal Screening

• Wrongful deaths and rightful lives – screening for Down syndrome - Frank Buckley and Sue Buckley - Downs Syndr Res Pract. 2008; 12(2):79-86 (Editorial)
• Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study -- Ekelund et al. - BMJ 2008; 337(272):a2547 (Free Full Text)

Neonatal Screening

• Testing for Fragile X Gene Mutations Throughout the Life Span - Hagerman and Hagerman - JAMA 2008; 300(20):2419-2421 (Commentary)
• Newborn Screening for Wilson Disease: Does Liquid Chromatography-Tandem Mass Spectrometry Provide the Solution? -- Gahl WA. - Clin Chem 2008, 54(12): 1941-1942 (Editorial)
• Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening -- de Wilde et al. - Clin Chem 2008, 54(12): 1961-1968.
• Newborn Screening for Sickle Cell Disease Using Tandem Mass Spectrometry -- Boemer et al. - Clin Chem 2008, 54(12): 2036-2041.
• Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I -- Blanchard et al. - Clin Chem 2008, 54(12): 2067-2070.
• Galactosemia Screening by Simultaneous Blood Spot Quantification of Galactose and Galactose 1-Phosphate -- Jeong et al. - Clin Chem 2008, 54(12): 2080-2082 (Letter)
• Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan - Tajima et al. - Pediatric Research 2008, 64(6):667-672
• Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening - Ficicioglu et al. - Molecular Genetics and Metabolism 2008, 95(4):206-212

Genetic Testing

• Attitudes of couples identified through screening as carriers of Gaucher disease type 1 - Zuckerman et al. - Clinical Genetics 2008, 74(6):566-570
• Molecular Genotyping in Transfusion Medicine -- Westhoff and Sloan - Clin Chem 2008, 54(12): 1948-1950.
• Cascade genetic testing for mismatch repair gene mutations - Mitchell et al. - Familial Cancer 2008, 7(4):293-301

Preimplantation Diagnosis

• The regulation of preimplantation genetic diagnosis (PGD) in the Netherlands and the UK: a comparative study of the regulatory frameworks and outcomes for PGD -- Asscher ECA. - Clin Ethics 2008, 3(4): 176-179