Anyane-Yeboa K - Search Results

1

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Petrovski S, et al. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878

2

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.

Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D. Jobanputra V, et al. Genet Med. 2005 Feb;7(2):111-8. doi: 10.1097/01.gim.0000153661.11110.fb. Genet Med. 2005. PMID: 15714078

3

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling.

Jobanputra V, Ash E, Anyane-Yeboa K, Warburton D, Levy B. Jobanputra V, et al. Am J Med Genet A. 2009 Jun;149A(6):1310-4. doi: 10.1002/ajmg.a.32680. Am J Med Genet A. 2009. PMID: 19449399 No abstract available.

4

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.

5

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.

Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield SE. Censani M, et al. Int J Pediatr Endocrinol. 2013;2013(1):11. doi: 10.1186/1687-9856-2013-11. Epub 2013 Jun 28. Int J Pediatr Endocrinol. 2013. PMID: 23809065 Free PMC article.

6

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies.

Jobanputra V, Wilson A, Shirazi M, Feenstra H, Levy B, Anyane-Yeboa K, Warburton D. Jobanputra V, et al. Am J Med Genet A. 2013 Sep;161A(9):2393-5. doi: 10.1002/ajmg.a.36040. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897564 No abstract available.

7

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D. Warburton D, et al. Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25. Hum Genet. 2014. PMID: 23979609 Free PMC article.

8

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.

Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R. Tuzovic L, et al. Fetal Diagn Ther. 2014;36(1):74-80. doi: 10.1159/000357703. Epub 2014 Feb 21. Fetal Diagn Ther. 2014. PMID: 24577413 Review.

9

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. DeStefano GM, et al. PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014. PLoS Genet. 2014. PMID: 24831815 Free PMC article.

10

The usefulness of whole-exome sequencing in routine clinical practice.

Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, Sisson R, Egan C, Chung WK. Iglesias A, et al. Genet Med. 2014 Dec;16(12):922-31. doi: 10.1038/gim.2014.58. Epub 2014 Jun 5. Genet Med. 2014. PMID: 24901346 Free article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

99 results

Search Page