PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome-Reference-Cited by-同舟云学术

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

Published:2015-04-08 Issue:12 Volume:23 Page:1615-1626
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nevado Julián,Rosenfeld Jill A^ORCID,Mena Rocío,Palomares-Bralo María,Vallespín Elena,Ángeles Mori María,Tenorio Jair A,Gripp Karen W,Denenberg Elizabeth,del Campo Miguel,Plaja Alberto,Martín-Arenas Rubén,Santos-Simarro Fernando,Armengol Lluis,Gowans Gordon,Orera María,Sanchez-Hombre M Carmen,Corbacho-Fernández Esther,Fernández-Jaén Alberto,Haldeman-Englert Chad,Saitta Sulagna,Dubbs Holly,Bénédicte Duban B,Li Xia,Devaney Lani,Dinulos Mary Beth,Vallee Stephanie,Crespo M Carmen,Fernández Blanca,Fernández-Montaño Victoria E,Rueda-Arenas Inmaculada,de Torres María Luisa,Ellison Jay W,Raskin Salmo,Venegas-Vega Carlos A,Fernández-Ramírez Fernando,Delicado Alicia,García-Miñaúr Sixto,Lapunzina Pablo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201551.pdf

Reference59 articles.

1. Grimwood J, Gordon LA, Olsen A et al: The DNA sequence and biology of human chromosome 19. Nature 2004; 428: 529–535.

2. Dolan M, Mendelsohn NJ, Pierpont ME : A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med 2010; 12: 503–511.

3. Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T : Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval. Am J Med Genet A 2011; 155A: 2212–2214.

4. Archer HL, Gupta S, Enoch S et al: Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter. Am J Med Genet A 2005; 136: 38–44.

5. Peddibhotla S, Kaslifa M, Probst FJ et al: Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using resolution clinical chromosomal microarray analysis. Am J Med Genet A 2013; 161A: 2953–2963.

Cited by 28 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. Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships;Genes;2023-08-15

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

3. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature;Journal of Autism and Developmental Disorders;2022-12-11

4. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04

5. 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