✦ LIBER ✦

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome

✍ Scribed by Duba, Hans-Christoph; Doll, Andreas; Neyer, Michael; Erdel, Martin; Mann, Christian; Hammerer, Ignaz; Utermann, Gerd; Grzeschik, Karl-Heinz

Book ID: 110025233
Publisher: Nature Publishing Group
Year: 2002
Tongue: English
Weight: 510 KB
Volume: 10
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200812

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterisation of a non-recurrent fami

Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams–Beuren syndrome region in chromosomal rearrangements

✍ Giorgio Portera; Marco Venturin; Antonella Patrizi; Emanuela Martinoli; Paola Ri 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 468 KB

Cryptic 7q21 and 9p23 deletions in a pat

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

✍ C. Bonnet; M.-J. Grégoire; M. Vibert; E. Raffo; B. Leheup; P. Jonveaux 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 478 KB

Characterization of a familial t(16;22)

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

✍ Robyn V. Jamieson; Nicola Farrar; Katrina Stewart; Rahat Perveen; Marija Mihelec 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 1 views

## Communicated by Jurgen Horst Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segreg

A new recurrent and specific cryptic tra

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

✍ Bernard, O A; Busson-LeConiat, M; Ballerini, P; Mauchauffé, M; Della Valle, V; M 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 442 KB

A new recurrent and specific cryptic tra

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

✍ Bernard, O A; Busson-LeConiat, M; Ballerini, P; Mauchauffé, M; Della Valle, V; M 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 442 KB