✦ LIBER ✦

Genotype–phenotype correlations in VHL exon deletions

✍ Scribed by Alisdair McNeill; Eleanor Rattenberry; Richard Barber; Pip Killick; Fiona MacDonald; Eamonn R. Maher

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 112 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33023

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype/phenotype correlations in two p

Genotype/phenotype correlations in two patients with 12q subtelomere deletions

✍ Dmitriy M. Niyazov; Zafar Nawaz; April N. Justice; Helga V. Toriello; Christa Le 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

Somatic mutations in VHL germline deleti

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype

✍ Scott D. Wait; Alexander O. Vortmeyer; Russell R. Lonser; David T. Chang; Michae 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 386 KB 👁 2 views

MECP2 deletions and genotype–phenotype c

MECP2 deletions and genotype–phenotype correlation in Rett syndrome

✍ Elisa Scala; Ilaria Longo; Federica Ottimo; Caterina Speciale; Katia Sampieri; E 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB 👁 1 views

## Abstract Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. __MECP2__ point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the gen

Genotype–phenotype correlations in Rubin

Genotype–phenotype correlations in Rubinstein–Taybi syndrome

✍ E.K. Schorry; M. Keddache; N. Lanphear; J.H. Rubinstein; S. Srodulski; D. Fletch 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

## Abstract Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in __CREBBP__ or __EP300__ genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic

Terminal 14q32.33 deletion: Genotype–phe

Terminal 14q32.33 deletion: Genotype–phenotype correlation

✍ M-L. Maurin; S. Brisset; M. Le Lorc'h; V. Poncet; P. Trioche; A. Aboura; P. Labr 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Analysis of genotype–phenotype correlati

Analysis of genotype–phenotype correlations in human holoprosencephaly

✍ Benjamin D. Solomon; Sandra Mercier; Jorge I. Vélez; Daniel E. Pineda-Alvarez; A 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB 👁 1 views

## Abstract Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non‐chromosomal, non‐syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals