A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies-Reference-Cited by-同舟云学术

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A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

Published:2005 Issue:1 Volume:140A Page:88-91
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yamamoto Toshiyuki,Ueda Hideaki,Kawataki Motoyoshi,Yamanaka Michiko,Asou Toshihide,Kondoh Yuki,Harada Naoki,Matsumoto Naomichi,Kurosawa Kenji

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

2. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

3. Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

4. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci

Cited by 17 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. Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature;American Journal of Medical Genetics Part A;2021-04-03

2. SMITH–MAGENIS SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

3. Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital cystic adenomatoid malformation by chromosomal microarray analysis;The Journal of Maternal-Fetal & Neonatal Medicine;2019-10-03

4. The copy number variation landscape of congenital anomalies of the kidney and urinary tract;Nature Genetics;2018-12-21

5. Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses;Italian Journal of Pediatrics;2018-08-22

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