Mefford HC - Search Results

1

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.

2

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. Hum Genet. 1996 Dec;98(6):710-8. doi: 10.1007/s004390050291. Hum Genet. 1996. PMID: 8931707

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

Evidence for a BRCA1 founder mutation in families of West African ancestry.

Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. Mefford HC, et al. Am J Hum Genet. 1999 Aug;65(2):575-8. doi: 10.1086/302511. Am J Hum Genet. 1999. PMID: 10417303 Free PMC article. No abstract available.

5

BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer.

Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. Schubert EL, et al. Among authors: mefford hc. Genet Test. 1997;1(1):41-6. doi: 10.1089/gte.1997.1.41. Genet Test. 1997. PMID: 10464624

6

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

7

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.

8

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.

9

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC. Landsverk ML, et al. Among authors: mefford hc. Hum Mol Genet. 2009 Apr 1;18(7):1200-8. doi: 10.1093/hmg/ddp014. Epub 2009 Jan 12. Hum Mol Genet. 2009. PMID: 19139049 Free PMC article.

10

Population analysis of large copy number variants and hotspots of human genetic disease.

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Itsara A, et al. Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22. Am J Hum Genet. 2009. PMID: 19166990 Free PMC article.

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