✦ LIBER ✦

Maternal mosaicism for mutations in theARXgene in a family with X linked mental retardation

✍ Scribed by K. Poirier; J. Abriol; I. Souville; C. Laroche-Raynaud; C. Beldjord; B. Gilbert; J. Chelly; T. Bienvenu

Publisher: Springer
Year: 2005
Tongue: English
Weight: 311 KB
Volume: 118
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-005-0011-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Linkage analysis in a large family with

Linkage analysis in a large family with nonspecific X-linked mental retardation

✍ Glass, I. A. ;White, E. M. ;Pope, M. J. ;Pirrit, L. A. ;Cockburn, F. ;Connor, J. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 629 KB

We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an I& between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abi

Novel JARID1C/SMCX mutations in patients

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

✍ Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chell 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB

X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. He

Dissociation between mental retardation

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

✍ M. A. Voelckel; M. G. Mattei; C. N'Guyen; N. Philip; F. Birg; J. F. Mattei 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 508 KB

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site

Linkage to Xq28 in a family with nonspec

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

✍ Ann-Marie Nordström; Maila Penttinen; Harriet Koskull 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 944 KB

Linkage analysis was performed in a family with nonspecific X-linked mental retardation (MRX). Affected individuals had no clinical characteristics other than mental retardation. Linkage was detected to the marker loci DXS477, DXS465, DXS52, DXS15 and F8C with maximum lod scores of 1.70, 1.32, 2.52,

Neuropsychological studies in families w

Neuropsychological studies in families with fragile-X negative X-linked mental retardation

✍ Cianchetti, Carlo ;Sannio-Fancello, Giuseppina ;Fratta, Anna-Lisa ;Pischedda, Ma 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 330 KB 👁 3 views

Linkage analysis in three families with

Linkage analysis in three families with nonspecific X-linked mental retardation

✍ Claes, S.; Gu, X. X.; Legius, E.; Lorenzetti, E.; Marynen, P.; Fryns, J. P.; Cas 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB

Nonspecific X-linked mental retardation (XLMR) is a common disorder. The number of genes involved in this condition is not known, but it is estimated to be more than 10. We present a clinical and linkage study on 3 families with XLMR. All families were analyzed using highly polymorphic markers cover