𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

✍ Scribed by Annabelle Chaussenot; Sylvie Bannwarth; Cecile Rouzier; Bernard Vialettes; Samira Ait El Mkadem; Brigitte Chabrol; Aline Cano; Pierre Labauge; Véronique Paquis-Flucklinger

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
620 KB
Volume
69
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel mutations in WFS
Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome
✍ A. Cano; C. Rouzier; S. Monnot; B. Chabrol; J. Conrath; P. Lecomte; B. Delobel; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,

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 👁 2 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

Genotype, molecular phenotype, and cogni
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
✍ Kaufmann, Walter E.; Abrams, Michael T.; Chen, Wilma; Reiss, Allan L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw