Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features-Reference-Cited by-同舟云学术

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Published:2018-11-30 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Cirello Valentina,Giorgini Valentina,Castronovo Chiara,Marelli Susan,Mainini Ester,Sironi Alessandra,Recalcati Maria Paola,Pessina Marco,Giardino Daniela,Larizza Lidia,Persani Luca,Finelli Palma,Russo Silvia,Fugazzola Laura

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference20 articles.

1. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia;Bartoloni;Proc. Natl. Acad. Sci. U.S.A,2002

2. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation;Begemann;Am. J. Med. Genet. A,2012

3. Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissue;Bidart;J. Clin. Endocrinol. Metab.,2000

4. Cochlear malformation sensorineural hearing loss in the Silver-Russell syndrome;Bigoni;Minerva Pediatr.

5. Molecular and functional studies of 4 candidate loci in Pendred syndrome and non-syndromic hearing loss;Cirello;Mol. Cell. Endocrinol.,2012

Cited by 3 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. Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome;Journal of Clinical Laboratory Analysis;2020-07-14

2. Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls;Frontiers in Pediatrics;2020-04-17

3. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate;Molecular Genetics & Genomic Medicine;2019-12-18