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Items: 1 to 20 of 283

1.

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF.

Am J Hum Genet. 1999 Sep;65(3):773-8.

2.

Identification of the gene causing mucolipidosis type IV.

Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G.

Nat Genet. 2000 Sep;26(1):118-23.

PMID:
10973263
3.

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA.

Genomics. 2001 Apr 15;73(2):203-10.

PMID:
11318610
4.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al.

Nat Genet. 1993 Jun;4(2):160-4.

PMID:
8102296
5.

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
6.

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.

Hum Mutat. 2001 May;17(5):397-402.

PMID:
11317355
7.

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.

Cerosaletti KM, Lange E, Stringham HM, Weemaes CM, Smeets D, Sölder B, Belohradsky BH, Taylor AM, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P.

Am J Hum Genet. 1998 Jul;63(1):125-34.

9.

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.

10.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

Curr Mol Med. 2002 Aug;2(5):445-50. Review.

PMID:
12125810
11.

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
12.

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.

Raas-Rothschild A, Bargal R, DellaPergola S, Zeigler M, Bach G.

Eur J Hum Genet. 1999 May-Jun;7(4):496-8.

13.

Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.

Gordon RM, Marchese T.

J Midwifery Womens Health. 2004 Jul-Aug;49(4):359-60. Review.

PMID:
15236718
14.

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.

15.

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G.

Am J Hum Genet. 2000 Nov;67(5):1110-20. Epub 2000 Sep 29.

16.

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
17.

Mucolipidosis type IV.

Bach G.

Mol Genet Metab. 2001 Jul;73(3):197-203. Review.

PMID:
11461186
18.

Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3.

Nakagawa H, Koyama K, Tanaka T, Miyoshi Y, Ando H, Baba S, Watatani M, Yasutomi M, Monden M, Nakamura Y.

Hum Genet. 1998 Feb;102(2):203-6.

PMID:
9521590
19.

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.

Am J Hum Genet. 2000 Jun;66(6):1821-32. Epub 2000 Apr 21.

20.

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R.

Am J Hum Genet. 2002 Apr;70(4):1023-7. Epub 2002 Feb 13.

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