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Items: 1 to 20 of 95

1.

Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.

Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, et al.

Nat Genet. 1994 Jun;7(2):185-8.

PMID:
7920639
2.

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.

Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA, et al.

Hum Mol Genet. 1995 May;4(5):879-86. Erratum in: Hum Mol Genet 1995 Nov;4(11):2187-8.

PMID:
7633448
3.

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA.

Hum Mutat. 1999;14(1):23-9.

PMID:
10447255
4.
5.

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF.

Am J Hum Genet. 1999 Apr;64(4):1110-8.

7.

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJ, Hejtmancik JF, Permutt MA.

Genome Res. 1996 Jun;6(6):504-14.

9.

Genetics of type II diabetes.

Permutt MA, Chiu K, Ferrer J, Glaser B, Inoue H, Nestorowicz A, Stanley CA, Tanizawa Y.

Recent Prog Horm Res. 1998;53:201-16. Review.

PMID:
9769709
10.

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA.

Hum Mol Genet. 1996 Nov;5(11):1813-22.

PMID:
8923011
11.

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA.

Eur J Hum Genet. 2000 May;8(5):372-80.

12.

Genetic mapping of disposition index and acute insulin response loci on chromosome 11q. The Insulin Resistance Atherosclerosis Study (IRAS) Family Study.

Palmer ND, Langefeld CD, Campbell JK, Williams AH, Saad M, Norris JM, Haffner SM, Rotter JI, Wagenknecht LE, Bergman RN, Rich SS, Bowden DW.

Diabetes. 2006 Apr;55(4):911-8.

13.

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC.

Hum Mol Genet. 1997 May;6(5):689-94.

PMID:
9158143
14.

Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt MA, Baker L, Stanley CA.

J Pediatr. 1998 Jan;132(1):9-14.

PMID:
9469993
15.

The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity.

Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI.

Am J Hum Genet. 1992 Dec;51(6):1349-54.

16.

Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M.

J Med Genet. 1997 Jul;34(7):573-8.

17.

Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients.

Pras E, Kreiss Y, Frishberg Y, Prosen L, Aksentijevich I, Kastner DL.

Genomics. 1999 Sep 1;60(2):248-50.

PMID:
10486219
18.

Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth.

O'Rahilly S, Patel P, Lehmann OJ, Tybjaerg-Hansen A, Nerup J, Turner RC, Wainscoat JS.

Hum Genet. 1992 May;89(2):207-12.

PMID:
1587533
19.

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

Pras E, Aksentijevich I, Gruberg L, Balow JE Jr, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL.

N Engl J Med. 1992 Jun 4;326(23):1509-13.

20.

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al.

Am J Hum Genet. 1994 Sep;55(3):468-75.

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