Zinn AR - Search Results

1

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Zinn AR, et al. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422. Am J Med Genet. 2002. PMID: 12116254

2

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, Zinn AR. Ross JL, et al. Among authors: zinn ar. Am J Med Genet A. 2003 Jan 1;116A(1):61-5. doi: 10.1002/ajmg.a.10807. Am J Med Genet A. 2003. PMID: 12476453

3

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).

Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE. Campos-Barros A, et al. Among authors: zinn ar. Am J Med Genet A. 2007 May 1;143A(9):933-8. doi: 10.1002/ajmg.a.31676. Am J Med Genet A. 2007. PMID: 17394206

4

A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.

Wei F, Cheng S, Badie N, Elder F, Scott C Jr, Nicholson L, Ross JL, Zinn AR. Wei F, et al. Among authors: zinn ar. Am J Med Genet. 2001 Sep 1;102(4):353-8. doi: 10.1002/1096-8628(20010901)102:4<353::aid-ajmg1481>3.0.co;2-7. Am J Med Genet. 2001. PMID: 11503163

5

Phenotypes Associated with SHOX Deficiency.

Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR. Ross JL, et al. Among authors: zinn ar. J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80. doi: 10.1210/jcem.86.12.8125. J Clin Endocrinol Metab. 2001. PMID: 11739418

6

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR. Ross JL, et al. Among authors: zinn ar. J Pediatr. 2005 Oct;147(4):499-507. doi: 10.1016/j.jpeds.2005.04.069. J Pediatr. 2005. PMID: 16227037

7

A second recombination hotspot associated with SHOX deletions.

Zinn AR, Ramos P, Ross JL. Zinn AR, et al. Am J Hum Genet. 2006 Mar;78(3):523-5. doi: 10.1086/500958. Am J Hum Genet. 2006. PMID: 16572514 Free PMC article. No abstract available.

8

A Turner syndrome neurocognitive phenotype maps to Xp22.3.

Zinn AR, Roeltgen D, Stefanatos G, Ramos P, Elder FF, Kushner H, Kowal K, Ross JL. Zinn AR, et al. Behav Brain Funct. 2007 May 21;3:24. doi: 10.1186/1744-9081-3-24. Behav Brain Funct. 2007. PMID: 17517138 Free PMC article.

9

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.

Zinn AR, Kushner H, Ross JL. Zinn AR, et al. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):507-9. doi: 10.1002/ajmg.b.30625. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17948898

10

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: zinn ar. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.

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