Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes-Reference-Cited by-同舟云学术

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

Published:2005-12-02 Issue:1-2 Volume:119 Page:1-8
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bendavid Claude,Dubourg Christèle,Gicquel Isabelle,Pasquier Laurent,Saugier-Veber Pascale,Durou Marie-Renée,Jaillard Sylvie,Frébourg Thierry,Haddad Bassem R.,Henry Catherine,Odent Sylvie,David Véronique

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-0097-6.pdf

Reference36 articles.

1. Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ (2004) Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum Mutat 23: 99

2. Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343–357

3. Barr M, Jr., Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN (1983) Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565–568

4. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353–356

5. Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M (2005) Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet Sep 30-Epub ahead of print

Cited by 47 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Holoprosencephaly: The Disease and Its Related Disabilities;Journal of Pediatric Neurology;2024-04

2. Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome;Case Reports in Genetics;2019-12-28

3. Recent advances in understanding inheritance of holoprosencephaly;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2018-05-22

4. Prenatal diagnosis of holoprosencephaly;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2018-05-17

5. Molecular testing in holoprosencephaly;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2018-05-17