Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation-Reference-Cited by-同舟云学术

Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

Published:2013-12-19 Issue:3 Volume:164 Page:639-647
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Martínez-Frías María Luisa¹²³,Ocejo-Vinyals Javier Gonzalo⁴,Arteaga Rosa⁵,Martínez-Fernández María Luisa²³,MacDonald Alexandra²,Pérez-Belmonte Elena⁶,Bermejo-Sánchez Eva²³⁷,Martínez Salvador⁸

Affiliation:

1. Departamento de Farmacología; Facultad de Medicina; Universidad Complutense de Madrid; Madrid Spain

2. Spanish Collaborative Study of Congenital Malformations (ECEMC); CIAC (Research Center on Congenital Anomalies); Instituto de Salud Carlos III; Madrid Spain

3. CIBER de Enfermedades Raras (CIBERER) (U724); Instituto de Salud Carlos III; Ministerio de Economía y Competitividad; Madrid Spain

4. Servicio de Inmunología; Hospital Universitario Marqués de Valdecilla; Santander Spain

5. Servicio de Neurología; Hospital Universitario Marqués de Valdecilla; Santander Spain

6. Servicio de Pediatría; Hospital Universitario Marqués de Valdecilla; Santander Spain

7. Instituto de Investigación de Enfermedades Raras (IIER); Instituto de Salud Carlos III. Ministerio de Economía y Competitividad; Madrid Spain

8. Instituto de Neurociencias de Alicante; CSIC-UMH; San Juan de Alicante Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. 14q(22) deletion in a familial case of anophthalmia with polydactyly;Ahmad;Am J Med Genet Part A,2003

2. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma;Aijaz;Invest Ophthal Vis Sci,2004

3. Allen Brain Atlas 2013 Expression data http://developingmouse.brain-map.org/

4. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways;Bakrania;Am J Hum Genet,2008

5. Deletion of a single-copy DAAM1 gene in congenital heart defect: A case report;Bao;BMC Med Genet,2012

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. Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma;Epilepsia;2020-11-17

2. Enhancer Locus in ch14q23.1 Modulates Brain Asymmetric Temporal Regions Involved in Language Processing;Cerebral Cortex;2020-05-20

3. Enhancer locus in ch14q23.1 modulates brain asymmetric temporal regions involved in language processing;2019-02-03

4. Pituitary Transcription Factor Mutations Leading to Hypopituitarism;Experientia Supplementum;2019

5. New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review;BMC Medical Genomics;2018-09-29