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Items: 1 to 20 of 323

1.

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, Prost Yd, Cardon LR, Hovnanian A.

Am J Hum Genet. 2000 Mar;66(3):914-21.

2.

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC.

Am J Hum Genet. 2001 Jul;69(1):216-22. Epub 2001 Jun 7.

3.

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L, Palotie A.

Am J Hum Genet. 2000 Mar;66(3):1132-7.

4.

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF.

Am J Hum Genet. 2000 Mar;66(3):904-13.

5.

Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.

Ohadi M, Lalloz MR, Sham P, Zhao J, Dearlove AM, Shiach C, Kinsey S, Rhodes M, Layton DM.

Am J Hum Genet. 1999 Jan;64(1):165-71.

6.

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar J, Gedde-Dahl T Jr, Larsson M, Pigg M, Carlsson B, Tentler D, Vahlquist A, Dahl N.

J Med Genet. 2004 Mar;41(3):208-12. No abstract available.

7.

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT.

Genomics. 1998 Aug 1;51(3):325-31.

PMID:
9721202
8.

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE.

Am J Hum Genet. 1999 Jan;64(1):126-35.

9.

Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.

Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT.

Hum Mol Genet. 1997 Apr;6(4):635-40.

10.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N.

Am J Hum Genet. 1997 Dec;61(6):1335-41.

11.

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

Zara F, Gennaro E, Stabile M, Carbone I, Malacarne M, Majello L, Santangelo R, de Falco FA, Bricarelli FD.

Am J Hum Genet. 2000 May;66(5):1552-7. Epub 2000 Mar 30.

12.
13.

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

Ruf RG, Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E, Hildebrandt F.

J Am Soc Nephrol. 2003 Jul;14(7):1897-900.

14.

Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.

Dixon MJ, Dixon J, Raskova D, Le Beau MM, Williamson R, Klinger K, Landes GM.

Hum Mol Genet. 1992 Jul;1(4):249-53.

PMID:
1303194
15.

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3.

Wang K, Pugh EW, Griffen S, Doheny KF, Mostafa WZ, al-Aboosi MM, el-Shanti H, Gitschier J.

Am J Hum Genet. 2001 Apr;68(4):1055-60. Epub 2001 Mar 12.

16.

Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.

Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R.

J Med Genet. 1998 Mar;35(3):202-4.

17.

Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.

Giehl KA, Rogers MA, Radivojkov M, Tosti A, de Berker DA, Weinlich G, Schmuth M, Ruzicka T, Eckstein GN.

Br J Dermatol. 2009 Mar;160(3):527-33. doi: 10.1111/j.1365-2133.2008.08948.x. Epub 2008 Nov 25.

PMID:
19067701
18.

Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.

Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ.

Am J Hum Genet. 1994 Dec;55(6):1146-52.

19.

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.

20.

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
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