✦ LIBER ✦

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting theJAG1 gene

✍ Scribed by Stankiewicz, Pawe? ;Rujner, Jolanta ;L�ffler, Christiane ;Kr�ger, Antje ;Nimmakayalu, Manjunath ;Pi?acik, Bo?ena ;Krajewska-Walasek, Ma?gorzata ;Gutkowska, Anna ;Hansmann, Ingo ;Giannakudis, Ioannis

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 330 KB
Volume: 103
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1531

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Refined FISH characterization of a de no

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

✍ Finelli, Palma ;Giardino, Daniela ;Russo, Silvia ;Gottardi, Giulietta ;Cogliati, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 3 views

Identification of a larger than 3 Mb del

Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)

✍ T. Oda; A.G. Elkahloun; P.S. Meltzer; K. Okajima; K. Sugiyama; Y. Wada; S.C. Cha 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 3 views

A novel gene, MDS2, is fused to ETV6/TEL

A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome

✍ María D. Odero; José L. Vizmanos; José P. Román; Idoya Lahortiga; Carlos Panizo; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 658 KB

## Abstract __ETV6/TEL__ is the first transcription factor identified that is specifically required for hematopoiesis within the bone marrow. This gene has been found to have multiple fusion partners of which 16 have been cloned. Fluorescence in situ hybridization (FISH) analysis in a patient with