Anyane-Yeboa K - Search Results

1

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.

2

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: anyane yeboa k. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.

3

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?

Warburton D, Anyane-Yeboa K, Taterka P, Yu CY, Olsen D. Warburton D, et al. Ann Genet. 1991;34(3-4):287-92. Ann Genet. 1991. PMID: 1809239

4

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

Warburton D, Anyane-Yeboa K, Francke U. Warburton D, et al. Am J Med Genet. 1987 Jun;27(2):275-83. doi: 10.1002/ajmg.1320270205. Am J Med Genet. 1987. PMID: 3605213

5

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.

Whitley CB, Anderson RA, Aronovich EL, Crotty PL, Anyane-Yeboa K, Russo D, Warburton D. Whitley CB, et al. Hum Mutat. 1993;2(3):235-7. doi: 10.1002/humu.1380020313. Hum Mutat. 1993. PMID: 8364592 No abstract available.

6

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.

7

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.

O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B. O'Keefe D, et al. Am J Hum Genet. 1997 Aug;61(2):295-303. doi: 10.1086/514854. Am J Hum Genet. 1997. PMID: 9311733 Free PMC article.

8

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.

Cserhalmi-Friedman PB, Anyane-Yeboa K, Christiano AM. Cserhalmi-Friedman PB, et al. Exp Dermatol. 2002 Oct;11(5):468-70. doi: 10.1034/j.1600-0625.2002.110511.x. Exp Dermatol. 2002. PMID: 12366701

9

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

10

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.

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