12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature-Reference-Cited by-同舟云学术

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12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature

Published:2018-08 Issue:8 Volume:61 Page:421-427
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Heldt Frederik,Wallaschek Hannah,Ripperger Tim,Morlot Susanne,Illig Thomas,Eggermann Thomas,Schlegelberger Brigitte,Scholz Caroline,Steinemann Doris

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference45 articles.

1. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction;Abi Habib;Genet. Med.,2018

2. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction;Alyaqoub;Am. J. Med. Genet.,2012

3. In vivo modulation of Hmgic reduces obesity;Anand;Nat. Genet.,2000

4. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome;Azzi;J. Med. Genet.,2015

5. IRAK-M is involved in the pathogenesis of early-onset persistent asthma;Balaci;Am. J. Hum. Genet.,2007

Cited by 7 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. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders;The Journal of Clinical Endocrinology & Metabolism;2022-05-18

2. Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature;Frontiers in Genetics;2021-09-01

3. Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders;The Journal of Clinical Endocrinology & Metabolism;2021-03-17

4. Die Rolle der HMGA-Proteine („high mobility group AT-hook“) bei Proliferation und Differenzierung mesenchymaler Zellen und Gewebe;Gefässchirurgie;2020-08-04

5. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature;Italian Journal of Pediatrics;2020-07-28

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