Torres-Martinez W - Search Results

1

Phenotype delineation of ZNF462 related syndrome.

Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: torres martinez w. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.

2

A report of three patients with an interstitial deletion of chromosome 15q24.

Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH. Cushman LJ, et al. Am J Med Genet A. 2005 Aug 15;137(1):65-71. doi: 10.1002/ajmg.a.30836. Am J Med Genet A. 2005. PMID: 16007617 Review.

3

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD. Roberts J, et al. Am J Med Genet A. 2014 Feb;164A(2):287-90. doi: 10.1002/ajmg.a.36273. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311538

4

Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD. Victorine AS, et al. Am J Med Genet A. 2014 Mar;164A(3):820-3. doi: 10.1002/ajmg.a.36362. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458945

5

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

Younger G, Vetrini F, Weaver DD, Lynnes TC, Treat K, Pratt VM, Torres-Martinez W. Younger G, et al. Among authors: torres martinez w. Am J Med Genet A. 2020 Nov;182(11):2501-2507. doi: 10.1002/ajmg.a.61808. Epub 2020 Sep 1. Am J Med Genet A. 2020. PMID: 32869452

6

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.

Heyroth-Griffis CA, Weaver DD, Faught P, Bellus GA, Torres-Martinez W. Heyroth-Griffis CA, et al. Am J Med Genet A. 2007 May 15;143A(10):1025-31. doi: 10.1002/ajmg.a.31691. Am J Med Genet A. 2007. PMID: 17431896

7

A case of de novo partial tetrasomy of distal 6p and review of the literature.

Stohler R, Kucharski E, Farrow E, Torres-Martinez W, Delk P, Thurston VC, Vance GH. Stohler R, et al. Am J Med Genet A. 2007 Sep 1;143A(17):1978-83. doi: 10.1002/ajmg.a.31678. Am J Med Genet A. 2007. PMID: 17663466 Review.

8

Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?

Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O'Neil J, Smith J, Torres-Martinez W. Wójcik C, et al. Am J Med Genet A. 2010 Feb;152A(2):479-83. doi: 10.1002/ajmg.a.33303. Am J Med Genet A. 2010. PMID: 20101707

9

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. Lohr NJ, et al. Am J Hum Genet. 2010 Mar 12;86(3):447-53. doi: 10.1016/j.ajhg.2010.01.028. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170897 Free PMC article.

10

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Mark PR, Torres-Martinez W, Lachman RS, Weaver DD. Mark PR, et al. Am J Med Genet A. 2011 Jan;155A(1):174-9. doi: 10.1002/ajmg.a.33762. Am J Med Genet A. 2011. PMID: 21204228

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