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Items: 1 to 20 of 103

1.

Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family.

Zhang C, Deng Y, Chen X, Wu X, Jin W, Li H, Yu C, Xiong Y, Zhou L, Chen Y.

Eur J Dermatol. 2006 May-Jun;16(3):246-50.

PMID:
16709486
2.

Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

Wang ZQ, Si L, Tang Q, Lin D, Fu Z, Zhang J, Cui B, Zhu Y, Kong X, Deng M, Xia Y, Xu H, Le W, Hu L, Kong X.

Am J Hum Genet. 2009 May;84(5):672-7. doi: 10.1016/j.ajhg.2009.03.019. Epub 2009 Apr 16.

3.

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, Bermejo-Fenoll A, Leal AS, Raval RC, Antonarakis SE.

Am J Hum Genet. 1997 Dec;61(6):1327-34.

4.

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
5.

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, Hodgson S, Zauber P, Spigelman A, Iwama T, Loff S, McKeown C, Marchese C, Sampson J, Davies S, Talbot I, Wyke J, Thomas G, Bodmer W, Hemminki A, Avizienyte E, de la Chapelle A, Aaltonen L, Tomlinson I, et al.

J Med Genet. 1998 Jan;35(1):42-4.

6.

Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases.

Hearle N, Lucassen A, Wang R, Lim W, Ross F, Wheeler R, Moore I, Shipley J, Houlston R.

Genes Chromosomes Cancer. 2004 Oct;41(2):163-9.

PMID:
15287029
7.

Genetic heterogeneity in Peutz-Jeghers syndrome.

Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, Schaid DJ, Hartmann LC, Schroeder JJ, Stratakis CA, Thibodeau SN.

Hum Mutat. 2000;16(1):23-30.

PMID:
10874301
8.

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

Zhao H, Tian Y, Breedveld G, Huang S, Zou Y, Y J, Chai J, Li H, Li M, Oostra BA, Lo WH, Heutink P.

Eur J Hum Genet. 2002 Mar;10(3):162-6.

9.

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM.

Ann Neurol. 2005 Mar;57(3):349-54.

PMID:
15732118
10.

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V.

Hum Genet. 2002 Apr;110(4):366-70. Epub 2002 Mar 13.

PMID:
11941487
11.

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.

Neurology. 2007 Jun 12;68(24):2107-12. Epub 2007 Mar 21.

PMID:
17377072
12.

A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16.

Lin Y, Liu T, Li J, Yang J, Du Q, Wang J, Yang Y, Liu X, Fan Y, Lu F, Chen Y, Pu Y, Zhang K, He X, Yang Z.

Mol Vis. 2008 Apr 18;14:739-44.

13.

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW.

Clin Dysmorphol. 1994 Apr;3(2):96-103.

PMID:
8055143
14.

Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome.

Zuo YG, Xu KJ, Su B, Ho MG, Liu YH.

Chin Med J (Engl). 2007 Jul 5;120(13):1183-6.

PMID:
17637250
15.

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D.

Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307.

PMID:
18446860
16.

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

Amos CI, Bali D, Thiel TJ, Anderson JP, Gourley I, Frazier ML, Lynch PM, Luchtefeld MA, Young A, McGarrity TJ, Seldin MF.

Cancer Res. 1997 Sep 1;57(17):3653-6.

17.

Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.

Basel-Vanagaite L, Alkelai A, Straussberg R, Magal N, Inbar D, Mahajna M, Shohat M.

J Med Genet. 2003 Oct;40(10):729-32.

18.

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.

Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.

Mol Vis. 2007 Aug 1;13:1357-62.

PMID:
17768382
19.

Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22.

Hedera P, Ma S, Blair MA, Taylor KA, Hamati A, Bradford Y, Abou-Khalil B, Haines JL.

Epilepsia. 2006 Oct;47(10):1622-8.

20.

Fine mapping of the dyskeratosis congenita locus in Xq28.

Knight SW, Vulliamy T, Forni GL, Oscier D, Mason PJ, Dokal I.

J Med Genet. 1996 Dec;33(12):993-5.

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