Mefford H - Search Results

1

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Trask BJ, et al. Among authors: mefford h. Hum Genet. 1996 Dec;98(6):710-8. doi: 10.1007/s004390050291. Hum Genet. 1996. PMID: 8931707

2

BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL, King MC. Schubert EL, et al. Among authors: mefford hc. Am J Hum Genet. 1997 May;60(5):1031-40. Am J Hum Genet. 1997. PMID: 9150150 Free PMC article.

3

Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping.

Mefford H, van den Engh G, Friedman C, Trask BJ. Mefford H, et al. Hum Genet. 1997 Jul;100(1):138-44. doi: 10.1007/s004390050479. Hum Genet. 1997. PMID: 9225983

4

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes.

Mefford HC, Linardopoulou E, Coil D, van den Engh G, Trask BJ. Mefford HC, et al. Hum Mol Genet. 2001 Oct 1;10(21):2363-72. doi: 10.1093/hmg/10.21.2363. Hum Mol Genet. 2001. PMID: 11689483

5

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location.

Linardopoulou E, Mefford HC, Nguyen O, Friedman C, van den Engh G, Farwell DG, Coltrera M, Trask BJ. Linardopoulou E, et al. Among authors: mefford hc. Hum Mol Genet. 2001 Oct 1;10(21):2373-83. doi: 10.1093/hmg/10.21.2373. Hum Mol Genet. 2001. PMID: 11689484

6

The complex structure and dynamic evolution of human subtelomeres.

Mefford HC, Trask BJ. Mefford HC, et al. Nat Rev Genet. 2002 Feb;3(2):91-102. doi: 10.1038/nrg727. Nat Rev Genet. 2002. PMID: 11836503 Review.

7

Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry.

Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ. Gygi MP, et al. Nucleic Acids Res. 2002 Jul 1;30(13):2790-9. doi: 10.1093/nar/gkf406. Nucleic Acids Res. 2002. PMID: 12087162 Free PMC article.

8

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Mefford HC, et al. Am J Hum Genet. 2007 Nov;81(5):1057-69. doi: 10.1086/522591. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924346 Free PMC article.

9

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. Sharp AJ, et al. Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17. Nat Genet. 2008. PMID: 18278044 Free PMC article.

10

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Mefford HC, et al. N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10. N Engl J Med. 2008. PMID: 18784092 Free PMC article.

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