Y-chromosome microdeletions are not associated with SHOX haploinsufficiency-Reference-Cited by-同舟云学术

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Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

Published:2013-09-05 Issue:11 Volume:28 Page:3155-3160
ISSN:1460-2350
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Chianese C.,Lo Giacco D.,Tüttelmann F.,Ferlin A.,Ntostis P.,Vinci S.,Balercia G.,Ars E.,Ruiz-Castañé E.,Giglio S.,Forti G.,Kliesch S.,Krausz C.

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/article-pdf/28/11/3155/17370963/det322.pdf

Reference20 articles.

1. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome;Adamson;Clin Endocrinol,2002

2. Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer;Benito-Sanz;J Med Genet,2012

3. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1;D'Haene;J Clin Endocrinol Metab,2010

4. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome;Gervasini;Genet Med,2010

5. Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity;Grigelioniene;Hum Genet,2001

Cited by 13 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. EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023;Andrology;2023-09-06

2. Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients’ and Offspring Health;Journal of Clinical Medicine;2021-09-05

3. Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-05-22

4. The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility;Genes;2019-12-29

5. Genetics of male infertility;Nature Reviews Urology;2018-04-05

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