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Items: 1 to 20 of 279

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.

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
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.

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
8.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PMID:
11581183
9.

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).

Asaka T, Ikeuchi K, Okino S, Takizawa Y, Satake R, Nitta E, Komai K, Endo K, Higuchi S, Oyake T, Yoshimura T, Suenaga A, Uyama E, Saito T, Konagaya M, Sunohara N, Namba R, Takada H, Honke K, Nishina M, Tanaka H, Shinagawa M, Tanaka K, Matsushima A, Tsuji S, Takamori M.

J Hum Genet. 2001;46(11):649-55.

PMID:
11721884
10.

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Jean G, Fuchshuber A, Town MM, Gribouval O, Schneider JA, Broyer M, van't Hoff W, Niaudet P, Antignac C.

Am J Hum Genet. 1996 Mar;58(3):535-43.

11.

Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype.

Stoller ML, Bruce JE, Bruce CA, Foroud T, Kirkwood SC, Stambrook PJ.

Am J Med Genet. 1999 Sep 10;86(2):134-9.

PMID:
10449648
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.

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.

15.

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.

Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, de la Chapelle A, Kaitila I.

Nat Genet. 1993 Apr;3(4):338-41.

PMID:
7981754
16.

Linkage mapping of the spinal muscular atrophy gene.

Burghes AH, Ingraham SE, Kóte-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, Carpten J, Hurko O, Florence J, et al.

Hum Genet. 1994 Mar;93(3):305-12.

PMID:
8125483
17.

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.

18.

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA.

Am J Hum Genet. 2000 Jul;67(1):222-8. Epub 2000 May 11.

19.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

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

PMID:
12125810
20.

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prévost C, Bouchard JP, Mathieu J, Rouleau GA.

Am J Hum Genet. 1996 Jan;58(1):28-34.

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