Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients-Reference-Cited by-同舟云学术

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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Published:2013-11-15 Issue:1 Volume:164 Page:62-69
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chowdhury Shimul¹,Bandholz Anne M.²,Parkash Sandhya³,Dyack Sarah³,Rideout Andrea L.³,Leppig Kathleen A.⁴,Thiese Heidi⁴,Wheeler Patricia G.⁵,Tsang Marilyn⁶,Ballif Blake C.²,Shaffer Lisa G.²,Torchia Beth S.²,Ellison Jay W.²,Rosenfeld Jill A.²

Affiliation:

1. Providence Sacred Heart Medical Center; Molecular Diagnostics; Spokane Washington

2. Signature Genomic Laboratories; PerkinElmer, Inc.; Spokane Washington

3. IWK Health Centre; Halifax Nova Scotia Canada

4. Group Health Cooperative; Seattle Washington

5. Nemours Children's Clinic; Orlando Florida

6. Sutter Children's Center; Sacramento California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2;Ballif;Clin Genet,2008

2. WTIP and Vangl2 are required for mitotic spindle orientation and cloaca morphogenesis;Bubenshchikova;Biol Open,2012

3. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome;Cabral;Genomics,2012

4. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2-Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation;Cario;Clin Genet,1999

5. Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4;Caubit;Development,2008

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1. Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements;Science;2024-03-29

2. A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome;Genes;2022-11-23

3. Essential role of Wtip in mouse development and maintenance of the glomerular filtration barrier;American Journal of Physiology-Renal Physiology;2022-09-01

4. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins;Blood Advances;2022-04-04

5. Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature;Genes;2022-01-24

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