FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome-Reference-Cited by-同舟云学术

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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Published:2009-09 Issue:3 Volume:85 Page:414-418
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Alazami Anas M.,Shaheen Ranad,Alzahrani Fatema,Snape Katie,Saggar Anand,Brinkmann Bernd,Bavi Prashant,Al-Gazali Lihadh I.,Alkuraya Fowzan S.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations;Al-Gazali;Clin. Dysmorphol.,2002

2. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects;Kiyozumi;Proc. Natl. Acad. Sci. USA,2006

3. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis;Smyth;Proc. Natl. Acad. Sci. USA,2004

4. Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development;Chiotaki;Gene Expr. Patterns,2007

5. Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development;Petrou;Exp. Cell Res.,2007

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1. Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome;European Journal of Human Genetics;2024-07-07

2. The impact of the Turkish population variome on the genomic architecture of rare disease traits;Genetics in Medicine Open;2024

3. Two novel mutations within FREM1 gene in patients with bifid nose;BMC Pediatrics;2023-12-14

4. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES);Archives of Gynecology and Obstetrics;2023-08-03

5. Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2;BMJ Case Reports;2023-06

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