Work Space for Clinical Geneticists

VICTOR A. McKUSICK, M.D. 1921-2008

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

The most recent articles published online

September 06, 2008

 

HUMAN GENETICS (General Aspects)

FOXO3A genotype is strongly associated with human longevity - Willcox et al. - PNAS, Published online before print September 2, 2008,

Migraine genetics - Montagna P. - Expert Rev Neurother. 2008; 8(9):1321-30.

Warfarin Pharmacogenetics - Limdi et al. - Pharmacotherapy 2008; 28(9):1084-97.

Human Telomere Structure and Biology -Riethman H. - Annu Rev Genomics Hum Genet. 2008; 9:1-19.

Clinical Utility of Contemporary Molecular Cytogenetics - Bejjani and Shaffer - Annu Rev Genomics Hum Genet. 2008; 9:71-86.

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases* - Antonellis and Green - Annu Rev Genomics Hum Genet. 2008; 9:87-107.

 

DYSMORPHOLOGY

Molecular Dysmorphology

ATM Gene Variants in Patients with Idiopathic Perifoveal Telangiectasia -- Barbazetto et al. - Investigative Ophthalmology and Visual Science 2008; 49(9):3806-3811.

Genetic Investigations of CFTR Mutations in Congenital Absence of Vas Deferens, Uterus, and Vagina as a Cause of Infertility -- Radpour et al. - J Androl 2008, 29(5): 506-513

Novel Variants in UBE2B Gene and Idiopathic Male Infertility -- Suryavathi et al. - J Androl 2008, 29(5): 564-571

Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids - Agbaga et al. - PNAS 2008, 105(35):12843-12848

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita -- Shaikh et al. - J Med Genet 2008; 45(9): e1.

Metalloproteinase Gene Expression Correlates With Clinical Outcome in Dupuytren's Disease - Johnston et al. - J Hand Surg [Am]. 2008; 33(7):1160-7.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly - Leger et al. - Neurogenetics. 2008 Aug 7. [Epub ahead of print]

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1 - Thai et al. - Hum Genet 2008, 124(2):155-160

Mutations of : CASK: cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum - Najm et al. - Nature Genetics 2008, 40(9):1065-1067

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia - Budde et al. - Nature Genetics 2008, 40(9):1113-1118

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation - Houge et al. - Eur J Hum Genet 2008, 16(9):1027-1028

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene - Turkmen et al. - Eur J Hum Genet 2008, 16(9):1070-1074

Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung’s disease - Coelho et al. - Pediatric Surgery International 2008, 24(9):1017-1021

HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1 - Wang et al. - Cytogenet Genome Res. 2008;121(3-4):189-195.

 

Nonsyndromic Birth Defects

Endocrine Disruptors, Genital Development, and Hypospadias -- Wang and Baskin - J Androl 2008, 29(5): 499-505

Very Low Birth Weight Preterm Infants With Surgical Short Bowel Syndrome: Incidence, Morbidity and Mortality, and Growth Outcomes at 18 to 22 Months -- Cole et al. - Pediatrics 2008; 122(3): e573-e582.

Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health -- Lavoie et al. - Pediatrics 2008; 122(3): 479-485.

Bronchopulmonary Dysplasia: A Genetic Disease -- Abman et al. - Pediatrics 2008; 122(3): 658-659 (Commentary)

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24 - Everett et al. - Eur J Hum Genet 2008, 16(9):1151-1154

Ectrodactyly with fibular aplasia: A separate entity? - Menke et al. - Eur J Med Genet 2008, 51(5):488-496

Congenital lung lesions: classification and concordance of radiological appearance and surgical pathology - Farrugia et al. - Pediatric Surgery International 2008, 24(9):987-991

A case of split notochord syndrome with congenital ileal atresia, the total absence of a colon, and a dorsal enteric cyst communicating to the retroperitoneal isolated ceca with a vesical fistula - Asagiri et al. - Pediatric Surgery International 2008, 24(9):1073-1077

The Genetics of Nephrolithiasis - Sayer JA. - Nephron Exp Nephrol. 2008; 110(2):e37-e43 (Free full text)

 

SYNDROMOLOGY

Syndromic Choroideremia: Sublocalization of Phenotypes Associated with Martin-Probst Deafness Mental Retardation Syndrome -- Poloschek et al. - Investigative Ophthalmology and Visual Science 2008; 49(9):4096-4104.

Association of assisted reproductive technology with twinning and congenital anomalies - Balci et al. - Indian J Pediatr. 2008; 75(6):638-40.

 

Molecular Syndromology

Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum -- Cole et al. - J Clin Endocrinol Metab 2008, 93(9): 3551-3559

Genetic Variation in Genes for the Xenobiotic-Metabolizing Enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and Susceptibility to Colorectal Cancer in Lynch Syndrome -- Pande et al. - Cancer Epidemiol Biomarkers Prev 2008, 17(9): 2393-2401

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer -- Sun et al. - J Med Genet 2008; 45(9): 589-595.

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome - Min-Jung Kwon et al. - Acta Otolaryngol. 2008 Sep 1:1-6. [Epub ahead of print]

ADAMTSL2: mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-[beta] bioavailability regulation - Le Coff et al. - Nature Genetics 2008, 40(9):1119-1123

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression - Frints et al. - Eur J Hum Genet 2008, 16(9):1029-1037

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase - Micale et al. - Eur J Hum Genet 2008, 16(9):1038-1049 (Free full text)

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome - Bergman et al. - Eur J Med Genet 2008, 51(5):417-425

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy - Valenzise et al. - Eur J Med Genet 2008, 51(5):497-500

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray - Lebet et al. - Genetics in Medicine 2008, 10(8):575-585

Cohesin and Human Disease -Liu and Krantz - Annu Rev Genomics Hum Genet. 2008; 9:303-320.

Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction - Milewicz et al. - Annu Rev Genomics Hum Genet. 2008; 9:283-302.

Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene - Clement et al. - J Clin Endocrinol Metab. 2008 Sep 2. [Epub ahead of print]

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East - Manzini et al. - Hum Mutat. 2008 Aug 27. [Epub ahead of print]

FOXL2 mutations and genomic rearrangements in BPES - Beysen et al. - Hum Mutat. 2008 Aug 22. [Epub ahead of print]

 

Animal Models of Human Syndromes

Altered Information Processing in the Prefrontal Cortex of Huntington;s Disease Mouse Models -- Walker et al. - J. Neurosci. 2008, 28(36): 8973-8982

Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of {beta}-catenin in mice -- Grigoryan et al. - Genes Dev. 2008, 22(17): 2308-2341.

Attenuation of Vision Loss and Delay in Apoptosis of Photoreceptors Induced by Proinsulin in a Mouse Model of Retinitis Pigmentosa -- Corrochano et al. - Investigative Ophthalmology and Visual Science 2008; 49(9):4188-4194.

 

CHROMOSOMAL ANOMALIES

Complex and segmental uniparental disomy updated -- Kotzot D. - J Med Genet 2008; 45(9): 545-556.

Cytogenetics and the evolution of medical genetics - Ferguson-Smith M. - Genetics in Medicine 2008, 10(8):553-559

A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences - Mrasek et al. - Cytogenet Genome Res. 2008;121(3-4):286-287.

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q - Mascarenhas et al. - Cytogenet Genome Res. 2008;121(3-4):293-297.

 

Chromosomal Disorders: Well-Known Syndromes

The Extended Tau Haplotype and the Age of Onset of Dementia in Down Syndrome - Jones et al. - Dement Geriatr Cogn Disord. 2008; 26(3):199-202.

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p - Hauge et al. - Genetics in Medicine 2008, 10(8):599-611

Triple X syndrome with rare phenotypic presentation - Jagadeesh et al. - Indian J Pediatr. 2008; 75(6):629-31.

Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies - Queipo et al. - Cytogenet Genome Res. 2008; 121(3-4):211-4.

Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p - Vranekovic et al. - Cytogenet Genome Res. 2008;121(3-4):298-301.

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia - Iourov et al. - Cytogenet Genome Res. 2008;121(3-4):302-306.

 

Microdeletion-Microduplication syndromes

Testicular Histology in Boys With Prader-Willi Syndrome: Fertile or Infertile? - Vogels et al. - J Urol. 2008 Aug 20. [Epub ahead of print]

Private inherited microdeletion/microduplications: Implications in clinical practice - Mencarelli et al. - Eur J Med Genet 2008, 51(5):409-416

Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups - Kotzot D. - Eur J Med Genet 2008, 51(5):444-451

A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation - Gijsbers et al. - Eur J Med Genet 2008, 51(5):479-487

Screening of Subtelomeric Rearrangements in 100 Korean Pediatric Patients with Unexplained Mental Retardation and Anomalies Using Subtelomeric FISH (Fluorescence In Situ Hybridization) - Park et al. - J Korean Med Sci. 2008; 23(4):573-8.

 

CLINICAL SYNDROMOLOGY

Research on Hutchinson-Gilford Progeria Syndrome - Warner HR. - A Biol Sci Med Sci. 2008; 63(8): 775-776

Hereditary Angioedema - Zuraw BL. - NEJM 2008, 359(10):1027-1036

Morphometric Spatial Patterns Differentiating Boys With Fragile X Syndrome, Typically Developing Boys, and Developmentally Delayed Boys Aged 1 to 3 Years - Hoeft et al. - Arch Gen Psychiatry. 2008; 65(9):1087-1097.

Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients -- Balmaña et al. - J Med Genet 2008; 45(9): 557-563.

Limb-Girdle Muscular Dystrophy Overview - Gordon et al. - GeneReviews

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6 - Globas et al. - Mov Disord. 2008 Aug 29. [Epub ahead of print]

Small-bowel cancer in Lynch syndrome: is it time for surveillance? - Koornstra et al. - Lancet Oncol. 2008; 9(9):901-5.

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? - Wimmer and Etzler - Hum Genet. 2008; 124(2):105-22.

The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement - Bailleul-Forestier et al. - Eur J Med Genet 2008, 51(5):383-408

 

Dysmetabolic Syndromes

Glycogen Storage Disease Type I - Bali and Chen - GeneReviews

Precocious puberty in Sanfilippo IIIA disease: Diagnosis and follow-up of two new cases - Concolino et al. - Eur J Med Genet 2008, 51(5):466-471

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index - Parini et al. - Clinical Genetics 2008, 74(3):260-266

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics* - Huizing et al. - Annu Rev Genomics Hum Genet. 2008; 9:359-386.

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease - Oliveira et al. - Virchows Arch. 2008 Sep 2. [Epub ahead of print]

 

Dyshistogenetic Syndromes

Incidence of Aortic Root Dilatation in Pectus Excavatum and Its Association With Marfan Syndrome - Rhee et al. - Arch Pediatr Adolesc Med. 2008; 162(9):882-885.

Clinical Imaging : US, CT, and MR imaging of hepatic masses in Alström syndrome: a case report - Morgan et al. - Clin Imaging 2008; 32(5):393-5.

Aicardi-Goutières syndrome: description of a late onset case - D'Arrigo et al. - Dev Med Child Neurol. 2008; 50(8):631-4.

Tuberous sclerosis - Curatolo et al. - Lancet 2008; 372(9639):657-68 (Seminar)

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): Belong the nervous tumours to the phenotype? - Morin et al. - Eur J Med Genet 2008, 51(5):436-443

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

 

Malformation Syndromes

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation -- Laugel et al. - J Med Genet 2008; 45(9): 564-571.

Hodgkin’s lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations - Fu-Sung Lo et al. - Int J Hematol. 2008 Aug 30. [Epub ahead of print]

Klippel-Feil syndrome and associated ear anomalies - Yildirim et al. - Am J Otolaryngol. 2008; 29(5):319-25.

Catel–Manzke syndrome: Two new patients and a critical review of the literature - Manzke et al. - Eur J Med Genet 2008, 51(5):452-465

Anesthetic management of a child with acrocallosal syndrome - Aliki et al. - Pediatric Anesthesia 2008, 18(10):1001-1002

Seckel syndrome: when developmental pathways determining brain and body size go wrong - Visscher H. - Clinical Genetics 2008, 74(3):211-212

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

Peters plus syndrome - Kapoor et al. - Indian J Pediatr. 2008; 75(6):635-7.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of sixteen novel patients - Zweier et al. - J Med Genet. 2008 Aug 26. [Epub ahead of print]

Craniosynostotic Variations in Syndromic, Identical Twins - Sarah et al. - Ann Plast Surg. 2008; 61(3):290-3.

 

PRENATAL SYNDROMOLOGY

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome - Keris et al. - Eur J Med Genet 2008, 51(5):472-478

 

TERATOLOGY

Beyond Thalidomide: Birth defects explained.: Edited by J. McCredie • Pp. 418. Royal Society of Medicine Press Ltd. 2007 ( Journal of Bone and Joint Surgery - British Volume, Vol 90-B, Issue 9, 1260 )

 

GENETIC PREVENTION

Neonatal Screening

Parental Tolerance of False-positive Newborn Screening Results - Prosser et al. - Arch Pediatr Adolesc Med. 2008; 162(9):870-876.

 

Genetic Testing

The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues - Hogarth et al. - Annu Rev Genomics Hum Genet. 2008; 9:161-182.