✦ LIBER ✦

The role of theTCF4gene in the phenotype of individuals with 18q segmental deletions

✍ Scribed by Minire Hasi; Bridgette Soileau; Courtney Sebold; Annice Hill; Daniel E. Hale; Louise O’Donnell; Jannine D. Cody

Publisher: Springer
Year: 2011
Tongue: English
Weight: 505 KB
Volume: 130
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-011-1020-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Haplosufficiency of the melanocortin-4 r

Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q

✍ J.D. Cody; X.T. Reveles; D.E. Hale; D. Lehman; H. Coon; R.J. Leach 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 132 KB

Deletion of chromosome region 18q21.1 ?

Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype

✍ Engelen, J.J.M. ;Moog, U. ;Weber, J. ;Haagen, A.A.M. ;van Uum, C.M.J. ;Hamers, A 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

An Alu-mediated large deletion of the FU

An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype

✍ Y. Koda; M. Soejima; P.H. Johnson; E. Smart; H. Kimura 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 312 KB

Mapping structural differences of the co

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization

✍ Peter Kochunov; Jack Lancaster; Jean Hardies; Paul M. Thompson; Roger P. Woods; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB

## Abstract Individuals with a constitutional chromosome abnormality consisting of a deletion of a portion of the long arm of chromosome 18 (18q−) have a high incidence (∼95%) of dysmyelination. Neuroradiologic findings in affected children report a smaller corpus callosum, but this finding has not

Clinical characterization of individuals

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

✍ Jill A. Rosenfeld; Blake C. Ballif; Donna M. Martin; Arthur S. Aylsworth; Bassem 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 817 KB

A review of phenotype-karyotype correlat

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2

✍ Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl A. ;Beckford, Avril 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 366 KB 👁 3 views