Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role ofLBX-Reference-Cited by-同舟云学术

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role ofLBX

Published:2014-04-29 Issue:8 Volume:164 Page:2074-2078
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fernández-Jaén Alberto¹,Suela Javier²,Fernández-Mayoralas Daniel Martín¹,Fernández-Perrone Ana Laura¹,Wotton Karl R.³,Dietrich Susanne⁴,Castellanos Maria del Carmen⁵,Cigudosa Juan C.²,Calleja-Pérez Beatriz⁶,López-Martín Sara⁷

Affiliation:

1. Pediatric Neurology Unit; Quiron University Hospital; Madrid Spain

2. Genomics and Medicine; NIMGenetics; Madrid Spain

3. EMBL/CRG Research Unit in Systems Biology; Centre for Genomic Regulation (CRG), and Universitat Pompeu Fabra (UPF); Barcelona Spain

4. University of Portsmouth, Institute of Biomedical and Biomolecular Science (IBBS), School of Pharmacy and Biomedical Sciences; Preston UK

5. Genetics Department, Gemolab; Quiron University Hospital; Madrid Spain

6. Pediatric Primary Care; Doctor Cirajas Healthcare Center; Madrid Spain

7. Department of Biological and Health Psychology, School of Psychology; Autonoma University of Madrid; Madrid Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36589/fullpdf

Reference33 articles.

1. Neuroanatomical and neuropsychological correlates of the cerebellum in children with attention-deficit/hyperactivity disorder-combined type;Bledsoe;J Am Acad Child Adolesc Psychiatry,2011

2. The role of Lbx1 in migration of muscle precursor cells;Brohmann;Development,2000

3. Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation;Dai;BMC Med Genet,2013

4. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24;de Mollerat;Hum Mol Genet,2003

5. Specification of the hypaxial musculature;Dietrich;Development,1998

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 Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles;Frontiers in Cell and Developmental Biology;2021-11-30

2. The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus;Medicine;2020-10-16

3. A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene;Molecular Medicine Reports;2020-06-24

4. Paraspinal muscle ladybird homeobox 1 (LBX1) in adolescent idiopathic scoliosis: a cross-sectional study;The Spine Journal;2019-12

5. Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation;Genetic Testing and Molecular Biomarkers;2017-06