Scott DA - Search Results

1

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ. Chen A, et al. Among authors: scott da. Am J Med Genet. 1997 Sep 5;71(4):467-71. Am J Med Genet. 1997. PMID: 9286457

2

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC. Scott DA, et al. Am J Hum Genet. 1995 Oct;57(4):965-8. Am J Hum Genet. 1995. PMID: 7573061 Free PMC article. No abstract available.

3

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Willing MC, et al. Among authors: scott da. Am J Hum Genet. 1994 Oct;55(4):638-47. Am J Hum Genet. 1994. PMID: 7942841 Free PMC article.

4

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. Scott DA, et al. Am J Hum Genet. 1996 Aug;59(2):385-91. Am J Hum Genet. 1996. PMID: 8755925 Free PMC article.

5

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Wayne S, et al. Among authors: scott da. Hum Mol Genet. 1996 Oct;5(10):1689-92. doi: 10.1093/hmg/5.10.1689. Hum Mol Genet. 1996. PMID: 8894709

6

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Walder RY, et al. Among authors: scott da. Hum Mol Genet. 1997 Sep;6(9):1491-7. doi: 10.1093/hmg/6.9.1491. Hum Mol Genet. 1997. PMID: 9285786

7

Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.

Greinwald JH Jr, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, Morton CC, Sheffield VC, Smith RJ. Greinwald JH Jr, et al. Among authors: scott da. Genome Res. 1997 Sep;7(9):879-86. doi: 10.1101/gr.7.9.879. Genome Res. 1997. PMID: 9314493 Free article.

8

Connexin mutations and hearing loss.

Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ. Scott DA, et al. Nature. 1998 Jan 1;391(6662):32. doi: 10.1038/34079. Nature. 1998. PMID: 9422505 No abstract available.

9

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Scott DA, et al. Hum Mutat. 1998;11(5):387-94. doi: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8. Hum Mutat. 1998. PMID: 9600457

10

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Among authors: scott da. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166

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