Brothman AR - Search Results

1

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST. Stevenson DA, et al. Among authors: brothman ar. Am J Med Genet A. 2007 May 15;143A(10):1053-9. doi: 10.1002/ajmg.a.31715. Am J Med Genet A. 2007. PMID: 17431905 Free PMC article.

2

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC. Bleyl SB, et al. Am J Med Genet A. 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036. Am J Med Genet A. 2007. PMID: 17994562

3

A new genomic mechanism leading to cri-du-chat syndrome.

South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. South ST, et al. Among authors: brothman ar. Am J Med Genet A. 2006 Dec 15;140(24):2714-20. doi: 10.1002/ajmg.a.31496. Am J Med Genet A. 2006. PMID: 17103439

4

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR. Svensson AM, et al. Among authors: brothman ar. Am J Med Genet A. 2007 Jun 15;143A(12):1348-53. doi: 10.1002/ajmg.a.31775. Am J Med Genet A. 2007. PMID: 17506097

5

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.

South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. South ST, et al. Among authors: brothman ar. Am J Med Genet A. 2008 Oct 15;146A(20):2691-7. doi: 10.1002/ajmg.a.32516. Am J Med Genet A. 2008. PMID: 18798325

6

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. Stevenson DA, et al. Among authors: brothman ar. J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027. J Pediatr. 2004. PMID: 15580214

7

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. South ST, et al. Among authors: brothman ar. Eur J Hum Genet. 2008 Jan;16(1):45-52. doi: 10.1038/sj.ejhg.5201915. Epub 2007 Aug 29. Eur J Hum Genet. 2008. PMID: 17726485

8

Genomic medicine in prenatal diagnosis.

South ST, Chen Z, Brothman AR. South ST, et al. Among authors: brothman ar. Clin Obstet Gynecol. 2008 Mar;51(1):62-73. doi: 10.1097/GRF.0b013e3181616509. Clin Obstet Gynecol. 2008. PMID: 18303500 Review.

9

6q subtelomeric deletion: is there a recognizable syndrome?

Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF Jr, Longo N. Stevenson DA, et al. Among authors: brothman ar. Clin Dysmorphol. 2004 Apr;13(2):103-106. Clin Dysmorphol. 2004. PMID: 15057127

10

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. Stevenson DA, et al. Among authors: brothman ar. Am J Med Genet A. 2004 Sep 15;130A(1):88-91. doi: 10.1002/ajmg.a.30200. Am J Med Genet A. 2004. PMID: 15368501

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

129 results

Search Page

Filters