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Items: 1 to 20 of 96

1.

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.

Fabbro S, Kahr WH, Hinckley J, Wang K, Moseley J, Ryu GY, Nixon B, White JG, Bair T, Schutte B, Di Paola J.

Blood. 2011 Mar 24;117(12):3430-4. doi: 10.1182/blood-2010-12-322990. Epub 2011 Jan 24.

2.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T.

Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.

3.

Thrombocytopenias due to gray platelet syndrome or THC2 mutations.

Di Paola J, Johnson J.

Semin Thromb Hemost. 2011 Sep;37(6):690-7. doi: 10.1055/s-0031-1291379. Epub 2011 Nov 18. Review.

PMID:
22102272
4.

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.

Sabir N, Riazuddin SA, Butt T, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Dec 8;16:2634-8.

5.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.

Acta Neuropsychiatr. 2015 Feb;27(1):38-47. doi: 10.1017/neu.2014.37. Epub 2014 Dec 1.

PMID:
25434728
6.

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.

7.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Jenkinson EM, Kingston H, Urquhart J, Khan N, Melville A, Swinton M, Crow YJ, Davis JR, Trump D, Newman WG.

Am J Med Genet A. 2011 Dec;155A(12):2910-5. doi: 10.1002/ajmg.a.34292. Epub 2011 Oct 14.

PMID:
22002932
8.

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L.

Neurogenetics. 2011 Aug;12(3):247-51. doi: 10.1007/s10048-011-0286-5. Epub 2011 Jun 4.

PMID:
21643797
9.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.

Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18.

10.

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

Sabir N, Riazuddin SA, Kaul H, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Dec 30;16:2911-5.

11.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.

Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.

PMID:
25078763
12.

Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.

Chacon-Camacho OF, Buentello-Volante B, Velázquez-Montoya R, Ayala-Ramirez R, Zenteno JC.

Gene. 2014 Jan 25;534(2):218-21. doi: 10.1016/j.gene.2013.10.057. Epub 2013 Nov 7.

PMID:
24211322
13.

[Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].

Gong YQ, Li JX, Liu QJ, Chen BX, Guo CH, Gao GM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):53-5. Chinese.

PMID:
12579502
14.

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.

Genomics. 1997 Apr 1;41(1):93-9.

PMID:
9126487
15.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP.

Am J Hum Genet. 2008 Nov;83(5):594-603. doi: 10.1016/j.ajhg.2008.10.014. Epub 2008 Oct 30.

16.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.

Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C.

Mol Vis. 2013 Nov 1;19:2165-72. eCollection 2013.

17.

Pitfalls in homozygosity mapping.

Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, Wright AF.

Am J Hum Genet. 2000 Nov;67(5):1348-51. Epub 2000 Sep 27.

18.

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.

Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.

BMC Med Genet. 2011 Apr 22;12:56. doi: 10.1186/1471-2350-12-56.

19.

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.

Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laët MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S.

Eur J Hum Genet. 2000 Aug;8(8):613-20.

20.

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.

Khan S, Muzaffar S, Tariq M, Khan A, Basit S, Ahmad W.

Br J Dermatol. 2010 Oct;163(4):711-8. doi: 10.1111/j.1365-2133.2010.09881.x. Epub 2010 Jul 26.

PMID:
20518786

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