𝔖 Bobbio Scriptorium
✦   LIBER   ✦

1165 Molecular Diagnosis of Mutations in RB1 Gene in Retinoblastoma Patients and Their Relatives – Implications for Genetic Counseling

✍ Scribed by Pereira Sena, P.; Ashton-Prolla, P.; Bonvicino, C.R.; Vargas, F.R.


Book ID
122045457
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
56 KB
Volume
48
Category
Article
ISSN
0959-8049

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Spectrum of germline RB1 gene mutations
✍ Javier Alonso; Purificación García-Miguel; José Abelairas; Marta Mendiola; Enric 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 374 KB 👁 1 views

Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and

MECP2 Mutations in Israel: Implications
✍ Yuval Yaron; Bruria Ben Zeev; Ruth Shomrat; Dani Bercovich; Tova Naiman; Avi Orr 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

This report describes molecular analysis of the MECP2 gene in 37 Israeli patients suspected of having Rett syndrome (RTT). The patients were from various Jewish ethnic groups and from Arabic origin. Of the 17 patients with classical RTT, bi-directional sequencing of the coding exons revealed MECP2 m

Functional analysis reveals splicing mut
✍ Nathalie Roux-Buisson; John Rendu; Isabelle Denjoy; Pascale Guicheney; Alice Gol 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT. We