Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor-Reference-Cited by-同舟云学术

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Published:2020-01-23 Issue:3 Volume:97 Page:467-476
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Tenorio Jair¹²³^ORCID,Nevado Julián¹²³,González‐Meneses Antonio⁴,Arias Pedro¹²,Dapía Irene¹²,Venegas‐Vega Carlos A.⁵,Calvente María⁶,Hernández Alicia¹²,Landera Leandro⁷,Ramos Sergio¹²,Cigudosa Juan Cruz⁶,Pérez‐Jurado Luis A.²⁸⁹,Lapunzina Pablo¹²³^ORCID,

Affiliation:

1. Instituto de Genética Médica y Molecular (INGEMM)‐IdiPAZ, Hospital Universitario LaPaz‐UAM, Paseo de La Castellana Madrid Spain

2. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fernández Almagro Madrid Spain

3. ERN‐ITHACA, ITHACA European Reference Network

4. Dysmorphology and Metabolism unit, Hospital Universitario Virgen del Rocío, Av. Manuel Siurot Sevilla Spain

5. Unidadde Genética, Hospital General de México, México City, Mexico, Facultad deMedicina, Universidad Nacional Autónoma de México México City Mexico

6. NIMGENETICS, c/ Faraday, 7 Parque Científico de Madrid Madrid Spain

7. Congenital Malformations Laboratory, Federal University of Rio de Janeiro, Avenida Carlos Chagas Filho Rio deJaneiro Brazil

8. Genetics Unit, Universitat Pompeu Fabra, and IMIM‐Hospital del Mar Barcelona Spain

9. Women's and Children's Hospital, South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide Adelaide Australia

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13689

Reference42 articles.

1. Microdeletion and Microduplication Syndromes

2. The Genetics of Microdeletion and Microduplication Syndromes: An Update

3. An Update on Common Chromosome Microdeletion and Microduplication Syndromes

4. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

5. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

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1. Investigation of (Epi)genetic causes in syndromic short children born small for gestational age;European Journal of Medical Genetics;2023-11

2. A familial rearrangement resulting in pure duplication of distal 19p13.3;Clinical Dysmorphology;2023-06-16

3. Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13;Genes;2023-02-21

4. A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb;American Journal of Medical Genetics Part A;2022-10-22

5. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome;American Journal of Medical Genetics Part A;2022-10-05