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Items: 1 to 20 of 176

1.

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2.

Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, Seidman CE.

Nat Genet. 1993 Oct;5(2):201-4.

PMID:
8252048
2.

The molecular basis of alkaptonuria.

Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S.

Nat Genet. 1996 Sep;14(1):19-24.

PMID:
8782815
3.

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guénet JL, Grimm T, Kress W, Müller CR.

Genomics. 1994 Jan 1;19(1):5-8.

PMID:
8188241
4.
5.

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

Serratosa JM, Delgado-Escueta AV, Posada I, Shih S, Drury I, Berciano J, Zabala JA, Antúnez MC, Sparkes RS.

Hum Mol Genet. 1995 Sep;4(9):1657-63.

PMID:
8541857
6.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H.

Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8. Epub 2009 Jun 14.

PMID:
19526372
7.

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.

8.

Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M.

J Med Genet. 1997 Jul;34(7):573-8.

9.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.

PMID:
17460281
10.

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC.

Hum Mol Genet. 1997 May;6(5):689-94.

PMID:
9158143
11.

Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.

Nozaki J, Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y, Koizumi A.

Biochem Biophys Res Commun. 2001 Jun 8;284(2):255-60.

PMID:
11394870
12.

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.

Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.

Genomics. 1998 Mar 15;48(3):341-5.

PMID:
9545639
13.

Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.

Tsujikawa M, Kurahashi H, Tanaka T, Okada M, Yamamoto S, Maeda N, Watanabe H, Inoue Y, Kiridoshi A, Matsumoto K, Ohashi Y, Kinoshita S, Shimomura Y, Nakamura Y, Tano Y.

Am J Hum Genet. 1998 Oct;63(4):1073-7.

14.

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.

Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E.

Eur J Hum Genet. 1999 Dec;7(8):849-59.

15.

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
16.

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.

Chou YH, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, Fuleihan GE, Seidman JG, Seidman CE.

Nat Genet. 1992 Jul;1(4):295-300.

PMID:
1302026
17.

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR.

Hum Mol Genet. 1995 Jan;4(1):71-5.

PMID:
7711736
18.

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment.

Knight HM, Maclean A, Irfan M, Naeem F, Cass S, Pickard BS, Muir WJ, Blackwood DH, Ayub M.

Eur J Hum Genet. 2008 Jun;16(6):750-8. doi: 10.1038/ejhg.2008.11. Epub 2008 Mar 5.

19.

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.

Genomics. 1999 Oct 1;61(1):1-4.

PMID:
10512674
20.

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D.

J Clin Invest. 1997 Feb 15;99(4):596-601.

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