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Items: 1 to 20 of 194

1.

Genetic heterogeneity in families with hereditary multiple exostoses.

Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, et al.

Am J Hum Genet. 1993 Jul;53(1):71-9.

2.

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ.

Hum Mol Genet. 1994 Jan;3(1):167-71.

PMID:
8162019
3.

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den Ouweland AM, Raskind WH, Hofstede FC, Reyniers E, Wells DE, de Vries B, et al.

Am J Hum Genet. 1995 Aug;57(2):382-7.

4.

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P.

J Med Genet. 1992 Oct;29(10):713-5.

5.

A gene for hereditary multiple exostoses maps to chromosome 19p.

Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P.

Hum Mol Genet. 1994 May;3(5):717-22.

PMID:
8081357
6.

Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.

Crossey PA, Maher ER, Jones MH, Richards FM, Latif F, Phipps ME, Lush M, Foster K, Tory K, Green JS, et al.

Hum Mol Genet. 1993 Mar;2(3):279-82.

PMID:
8499917
7.

Genetic heterogeneity for familial hypertrophic cardiomyopathy in Chinese: analysis of six Chinese kindreds.

Ko YL, Teng MS, Tang TK, Chen JJ, Lee YS, Wu CW, Lien WP, Liew CC.

Chin Med J (Engl). 1998 May;111(5):416-21.

PMID:
10374350
8.

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.

PMID:
11912177
9.

Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.

Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF.

Br J Dermatol. 2005 Jan;152(1):29-36.

PMID:
15656797
10.

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.

Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P.

Am J Med Genet A. 2008 Mar 1;146A(5):578-84. doi: 10.1002/ajmg.a.32139.

PMID:
18241056
11.

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.

Génin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Bégeot M, Naville D.

Hum Genet. 2002 Oct;111(4-5):428-34. Epub 2002 Aug 24.

PMID:
12384787
12.

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome.

Barr CL, Best L, Weksberg R.

Am J Med Genet. 2001 Nov 22;104(2):120-6.

PMID:
11746041
13.

[Localization of the gene for 4 hereditary multiple exostoses families].

Tang Y, Xia JH, Zhou JN, Li HJ, Wang DP, Dai HP, Long ZG, Tang BS, Huang L, Deng HX.

Yi Chuan Xue Bao. 1998;25(1):1-7. Chinese.

PMID:
9648398
14.

X-linked liver glycogenosis: localization and isolation of a candidate gene.

Hendrickx J, Coucke P, Bossuyt P, Wauters J, Raeymaekers P, Marchau F, Smit GP, Stolte I, Sardharwalla IB, Berthelot J, et al.

Hum Mol Genet. 1993 May;2(5):583-9.

PMID:
8518797
15.

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

Ahn J, Lüdecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE.

Nat Genet. 1995 Oct;11(2):137-43.

PMID:
7550340
16.

Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20).

Lazzarini A, Stenroos ES, Lehner T, McKoy V, Gold B, McCormack MK, Reid CS, Ott J, Johnson WG.

Am J Med Genet. 1995 Jul 17;57(4):552-7.

PMID:
7573127
17.

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.

Youngman S, Sarfarazi M, Quarrell OW, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF.

Hum Genet. 1986 Aug;73(4):333-9.

PMID:
3017842
18.

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.

Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M, Le Merrer M, Plauchu H, Maroteaux P, Munnich A, Clerget-Darpoux F.

Hum Genet. 1997 Mar;99(3):298-302.

PMID:
9050912
19.

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C.

Neurology. 1996 May;46(5):1311-8.

PMID:
8628473
20.

Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23.

Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, Wiley KE, Chang B, Ewing CM, Bujnovszky P, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB.

Am J Hum Genet. 2001 Aug;69(2):341-50. Epub 2001 Jul 6.

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