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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.


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.


KITLG mutations cause familial progressive hyper- and hypopigmentation.

Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M.

J Invest Dermatol. 2011 Jun;131(6):1234-9. doi: 10.1038/jid.2011.29. Epub 2011 Mar 3.


[Progressive familial hyperpigmentation is associated with mutations activating the KIT receptor ligand].

Dereure O.

Ann Dermatol Venereol. 2010 Mar;137(3):247. doi: 10.1016/j.annder.2009.11.002. Epub 2009 Dec 16. French. No abstract available.


The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF.

Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12.


Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.

Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST.

Hum Mol Genet. 2002 Mar 15;11(6):623-32.


A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.

Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.


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.


Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z.

Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16. Erratum in: Am J Hum Genet. 2013 Jun 6;92(6):1014.


A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

Chung MY, Lu YC, Cheng NC, Soong BW.

Brain. 2003 Jun;126(Pt 6):1293-9.


Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.


Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X.

Mol Vis. 2008 Mar 4;14:378-86.


CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI.

Am J Hum Genet. 2007 Sep;81(3):596-606. Epub 2007 Jul 27.


Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.

Wu LQ, Yang YF, Zheng D, Deng H, Pan Q, Zhao TL, Cai F, Feng Y, Long ZG, Dai HP, Tang BS, Yang YJ, Deng HX, Xia K, Xia JH.

Br J Dermatol. 2004 May;150(5):999-1004.


A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension.

Disse-Nicodème S, Achard JM, Desitter I, Houot AM, Fournier A, Corvol P, Jeunemaitre X.

Am J Hum Genet. 2000 Aug;67(2):302-10. Epub 2000 Jun 22.


Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2.

Lee DD, Lin MW, Chen IC, Huang CY, Liu MT, Wang CR, Chang YT, Liu HN, Liu TT, Wong CK, Tsai SF.

Br J Dermatol. 2006 Dec;155(6):1201-8.


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.


Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.


A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26.

McAuley EZ, Blair IP, Liu Z, Fullerton JM, Scimone A, Van Herten M, Evans MR, Kirkby KC, Donald JA, Mitchell PB, Schofield PR.

Mol Psychiatry. 2009 May;14(5):492-500. doi: 10.1038/ Epub 2008 Jan 29.

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