Identification of the fourth duplication of upstreamIHHregulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements-Reference-Cited by-同舟云学术

Identification of the fourth duplication of upstreamIHHregulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

Published:2015-02-18 Issue:4 Volume:167 Page:902-906
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barroso Eva¹²,Berges-Soria Julia¹,Benito-Sanz Sara¹²,Rivera-Pedroza Carlos Ivan¹,Ballesta-Martínez María Juliana²³,López-González Vanesa²³,Guillen-Navarro Encarna²³⁴,Heath Karen E¹²

Affiliation:

1. Institute of Medical and Molecular Genetics (INGEMM); Hospital Universitario La Paz; Universidad Autónoma de Madrid; IdiPAZ Madrid Spain

2. Centro de Investigación Biomédica en Enfermedades Raras (CIBERER); Instituto Carlos; Madrid Spain

3. Medical Genetics Unit; Dept. of Pediatrics; Hospital Clínico Universitario Virgen de la Arrixaca; IMIB-Arrixaca Murcia Spain

4. Cátedra de Genética Médica.; UCAM-Universidad Católica San Antonio de Murcia; Spain

Funder

Ministerio de InnovaciÃ³n y Ciencia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. A population-based study of craniosynostosis in metropolitan Atlanta 1989-2003;Boulet;Am J Med Genet Part A,2008

2. Polydactyly in the mouse mutant Doublefoot involves Gli3 processing and is caused by a large deletion in cis to Indian hedgehog;Babbs;Mech Dev,2008

3. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS);Benito-Sanz;J Clin Endocrinol and Metab,2011

4. Hedgehog and BMP genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo;Bitgood;Dev Biol,1995

5. Localization of a gene for syndactyly type 1 to chromosome 2q34-q36;Bosse;Am J Hum Genet,2000

Cited by 9 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. A genomic mutational constraint map using variation in 76,156 human genomes;Nature;2023-12-06

2. Three‐dimensional genome structure and function;MedComm;2023-07-08

3. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes;2022-03-21

4. Single-cell analysis identifies a key role for Hhip in murine coronal suture development;Nature Communications;2021-12

5. Ranking of non-coding pathogenic variants and putative essential regions of the human genome;Nature Communications;2019-11-20