✦ LIBER ✦

A fragile X family with high penetrance in females: risk heterogeneity?

✍ Scribed by Francisco Martínez; Lourdes Badía; Félix Prieto

Book ID: 115090284
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 558 KB
Volume: 42
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1992.tb03130.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Female relatives in families with the fr

Female relatives in families with the fragile X syndrome

✍ Partington, M. W. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 742 KB

A profile of cognitive deficit in female

A profile of cognitive deficit in females from fragile x families

✍ Charles M. Miezejeski; Edmund C. Jenkins; A.Lewis Hill; Krystyna Wisniewski; Jos 📂 Article 📅 1986 🏛 Elsevier Science 🌐 English ⚖ 348 KB

Phenotypic heterogeneity and full penetr

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

✍ S Karkheiran; B Hubert; HN Moghaddam; H Darvish; C Paisán-Ruiz 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 583 KB

Arithmetic difficulties in females with

Arithmetic difficulties in females with the fragile X premutation

✍ Ave M. Lachiewicz; Deborah V. Dawson; Gail A. Spiridigliozzi; Allyn McConkie-Ros 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

Tissue heterogeneity of theFMR1 mutation

Tissue heterogeneity of theFMR1 mutation in a high-functioning male with fragile X syndrome

✍ Taylor, Annette K.; Tassone, Flora; Dyer, Pamela N.; Hersch, Steven M.; Harris, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 3 views

Few studies have been conducted comparing the FMR1 mutation in multiple tissues of individuals affected with fragile X syndrome. We report a postmortem study of the FMR1 mutation in multiple tissues from a high-functioning male with fragile X syndrome. This man was not mentally retarded and had only

Reduced penetrance in a family with X-li

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

✍ Yorck Hellenbroich; Karl-Heinz Grzeschik; Martin Krapp; Tiantom Jarutat; Christa 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 416 KB