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

October 04, 2008

DYSMORPHOLOGY

• Correlations between risk gene variants for schizophrenia and brain structure anomalies - Nickl-Jockschat et al. - Nervenarzt. 2008 Sep 28. [Epub ahead of print] [Article in German]

Molecular Dysmorphology

• A Common RET Variant Is Associated with Reduced Newborn Kidney Size and Function -- Zhang et al. 19 (10): 2027 -- Journal of the American Society of Nephrology - Zhang et al. - J Am Soc Nephrol 2008, 19(10): 2027-2034.
• Inherited Surfactant Disorders -- Gower et al. - NeoReviews 2008, 9(10): e458
• Angiotensinogen gene G-6A polymorphism influences idiopathic pulmonary fibrosis disease progression -- Molina-Molina et al. - Eur Respir J 2008, 32(4): 1004-1008.
• Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD - Stanczak et al. - Eur J Hum Genet. 2008 Oct 1. [Epub ahead of print]
• PTCH1 duplication in a family with microcephaly and mild developmental delay - Derwinska et al. - Eur J Hum Genet. 2008 Oct 1. [Epub ahead of print]

 

Minor Anomalies

• Preauricular Skin Tags and Ear Pits Are Associated With Permanent Hearing Impairment in Newborns -- Roth et al. - Pediatrics 2008; 122(4): e884-e890.

Nonsyndromic Birth Defects

• Congenital Clubfoot Associated with an Accessory Soleus Muscle -- Karapinar et al. 98 (5): 408 -- Journal of the American Podiatric Medical Association - Karapinar et al. - J Am Podiatr Med Assoc 2008, 98(5): 408-413.
• Pitfalls in the Diagnosis and Management of Obstructive Uterovaginal Duplication: A Series of 32 Cases -- Capito et al. - Pediatrics 2008; 122(4): e891-e897.
• Clinical Observation of Self-Injurious Behavior Correlated With Changes in Scalp Morphology in a Child With Congenital Hydrocephalus -- Hartman et al. - J Child Neurol 2008, 23(9): 1062-1065
• Genetics of scoliosis - Heary and Madhavan - Neurosurgery 2008; 63(3 Suppl):222-7.

SYNDROMOLOGY

Molecular Syndromology

• Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP -- Linder et al. - Hum. Mol. Genet. 2008, 17(20): 3236-3246
• Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations -- Jacobson et al. - Investigative Ophthalmology and Visual Science 2008; 49(10):4573-4577.
• Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome -- Petit et al. - Haematologica 2008, 93(10): 1590-1591.
• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome - Consugar et al. - Kidney Int. 2008 Sep 24. [Epub ahead of print]
• Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements - Bocciardi et al. - Eur J Hum Genet advance online publication, October 1, 2008
• Missense mutations to the TSC1 gene cause tuberous sclerosis complex - Nellist et al. - Eur J Hum Genet advance online publication, October 1, 2008

 

Animal Models of Human Syndromes

 

• Compensatory changes in the ubiquitin-proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients -- Seo et al. - Hum. Mol. Genet. 2008, 17(20): 3144-3153
• Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia -- Stum et al. - Hum. Mol. Genet. 2008, 17(20): 3166-3179
• Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia -- Uechi et al. - Hum. Mol. Genet. 2008, 17(20): 3204-3211

CHROMOSOMAL ANOMALIES

 

Chromosomal Disorders: Well-Known Syndromes

• Space-time analysis of Down syndrome: results consistent with transient pre-disposing contagious agent -- McNally et al. - Int. J. Epidemiol. 2008, 37(5): 1169-1179
• Commentary: Clustering in Down syndrome -- Morris JK. - Int. J. Epidemiol. 2008, 37(5): 1179-1180
• Ovotesticular Disorder of Sexual Development (True Hermaphroditism) - Berger-Zaslav et al. - Urology. 2008 Sep 24. [Epub ahead of print]
• Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions - Engbers et al. - Eur J Hum Genet. 2008 Oct 1. [Epub ahead of print]

Microdeletion-Microduplication syndromes

• Periodontal conditions in Williams Beuren Syndrome: A series of 8 cases - Joseph et al. - Eur Arch Paediatr Dent. 2008; 9(3):142-7.

CLINICAL SYNDROMOLOGY

• Autosomal Dominant Polycystic Kidney Disease - Grantham JJ. - NEJM 2008, 359(14):1477-1485
• Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype - Ferguson et al. - Arthritis Rheum. 2008; 58(10):3264-3269.

   

  Dyshistogenetic Syndromes

• Thanatophoric Dysplasia - Karczeski and Cutting - GeneReviews
• Impact of Neurofibromatosis Type 1 on School Performance -- Krab et al. - J Med Ethics 2008; 34(9): e21.
• Cleidocranial dysplasia in a mother and her two children - Pamuk et al. - Joint Bone Spine. 2008 Sep 23. [Epub ahead of print]
• Twenty years of audiology in a patient with Norrie disease - Halpin and Sims - Int J Pediatr Otorhinolaryngol. 2008 Sep 23. [Epub ahead of print]

Malformation Syndromes

• Roberts Syndrome - Gordillo et al. - GeneReviews
• Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I - Martinez-Lage et al. - J Neurosurg. 2008; 109(4):746-50.
• Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters - Schneider et al. - Am J Med Genet A. 2008 Oct 1. [Epub ahead of print]
• Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation - Brunetti-Pierri et al. - Am J Med Genet A. 2008 Oct 1. [Epub ahead of print]
• Larsen syndrome - Gupta and Kabra - Indian Pediatr. 2008; 45(9):783-4.

   

  GENETIC PREVENTION

   

  Prenatal Screening

• Prenatal Detection of a Subtle Unbalanced Chromosome Rearrangement by Karyotyping, FISH and Array Comparative Genomic Hybridization - Cain et al. - Fetal Diagn Ther. 2008; 24(3):286-290.

Neonatal Screening

• Rapid and Effective Screening for Lysosomal Storage Disease: How Close Are We? -- Millington DS. - Clin Chem 2008, 54(10): 1592-1594.
• Newborn Screening for Pompe Disease by Measuring Acid {alpha}-Glucosidase Activity Using Tandem Mass Spectrometry -- Dajnoki et al. - Clin Chem 2008, 54(10): 1624-1629.
• Newborn Screening for Sickle Cell Disease Using Tandem Mass Spectrometry -- Boemer et al., - Clin Chem published 2 October 2008

   

  Preimplantation Diagnosis

• Preimplantation genetic diagnosis: a step by step guide to recent Italian ethical and legislative troubles -- Turillazzi and Fineschi - J Med Ethics 2008; 34(10): e21.