✦ LIBER ✦

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

✍ Scribed by Chauve, Xavina ;Missirian, Chantal ;Malzac, Perrine ;Girardot, Lydie ;Guys, Jean-Michel ;Louis, Claude ;Philip, Nicole ;Voelckel, Marie-Antoinette

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 184 KB
Volume: 95
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genetic homogeneity, high-resolution map

Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

✍ Wang, Cong-Yi; Huang, Yi-Qun; Shi, Jing-Da; Marron, Michele P.; Ruan, Qing-Guo; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Previously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-24, using families from Columbia. Here we demonstr

Hydrolethalus syndrome in a non-Finnish

Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis

✍ T. J. L. de Ravel; M. C. van der Griendt; P. Evan; C. A. Wright 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB 👁 1 views

We present a family in which the first affected child presented with a 'milder' form of the hydrolethalus syndrome and survived to seven months, and two subsequent pregnancies with typical features detected early by ultrasound evaluation. We propose that the 'milder' cases are indeed true cases of t

A genetic analysis of the papillon-lefèv

A genetic analysis of the papillon-lefèvre syndrome in a Jewish family from Cochin

✍ Hacham-Zadeh, S. ;Schaap, T. ;Cohen, M. M. ;Opitz, John M. 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 283 KB

High resolution mapping and mutation ana

High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region

✍ Wang, Cong-Yi ;Davoodi-Semiromi, Abodoreza ;Shi, Jing-Da ;Yang, Ping ;Huang, Yi- 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 2 views

Central nervous system anomalies in Seck

Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

✍ Shanske, Alan; Marion, Robert 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 1001 B 👁 2 views

Recently, Shanske, et al. [1997] reported central nervous system anomalies in Seckel syndrome. We described what we thought to be the seventh instance of affected sibs born to normal parents and only the second family in which consanguinity had occurred. Imaging studies in our patient showed dysgen

Genetic linkage of region containing the

Genetic linkage of region containing the CREB1 gene to depressive disorders in families with recurrent, early-onset, major depression: A re-analysis and confirmation of sex-specific effect

✍ Brion S. Maher; Hugh B. Hughes III; Wendy N. Zubenko; George S. Zubenko 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 2 views

## Abstract A previously published model‐free linkage analysis of chromosome 2q33–35, highlighted by previous case–control studies and supported by within‐family analyses employing the transmission disequilibrium test, revealed evidence of sex‐specific linkage of the __CREB1__‐containing region of