Anyane-Yeboa K - Search Results

1

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Revah-Politi A, et al. Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22. Am J Med Genet A. 2017. PMID: 28941020

2

Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.

Almeida L, Anyane-Yeboa K, Grossman M, Rosen T. Almeida L, et al. Am J Med Genet. 1988 Aug;30(4):917-23. doi: 10.1002/ajmg.1320300407. Am J Med Genet. 1988. PMID: 3189414

3

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Brown S, et al. Am J Med Genet. 1993 Jan 1;45(1):52-9. doi: 10.1002/ajmg.1320450115. Am J Med Genet. 1993. PMID: 8418661 Review.

4

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.

5

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.

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 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.

8

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Agarwal NS, Northrop L, Anyane-Yeboa K, Aggarwal VS, Nagy PL, Demirdag YY. Agarwal NS, et al. J Clin Immunol. 2014 Aug;34(6):607-10. doi: 10.1007/s10875-014-0067-7. Epub 2014 Jun 17. J Clin Immunol. 2014. PMID: 24931897

9

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K. Tuzovic L, et al. Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13. Fetal Diagn Ther. 2015. PMID: 25998219

10

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762

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