𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

✍ Scribed by Zollino, Marcella ;Di Stefano, Cristina ;Zampino, Giuseppe ;Mastroiacovo, Pierpaolo ;Wright, Tracy J. ;Sorge, Giovanni ;Selicorni, Angelo ;Tenconi, Romano ;Zappal�, Alessandro ;Battaglia, Agatino ;Di Rocco, Maja ;Palka, Giandomenico ;Pallotta, Rosanna ;Altherr, Michael R. ;Neri, Giovanni

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
428 KB
Volume
94
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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 👁 1 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

Brain metabolism in rett syndrome: Age,
Brain metabolism in rett syndrome: Age, clinical, and genotype correlations
✍ Alena Horská; Luciano Farage; Genila Bibat; Lídia M. Nagae; Walter E. Kaufmann; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 306 KB 👁 1 views

## Abstract ## Objective Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT). This study reports the relation of MRS findings to age, disease severity, and genotype. ## Methods Forty RTT girls (1–14 years old) and