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Items: 1 to 20 of 129

1.

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al.

Nat Genet. 1994 Mar;6(3):318-21.

PMID:
8012398
2.

The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P.

Nat Genet. 1994 Mar;6(3):314-7.

PMID:
8012397
3.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al.

Hum Mol Genet. 1994 May;3(5):787-92.

PMID:
8081365
4.

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P.

Am J Med Genet. 1995 Jan 2;55(1):127-33.

PMID:
7702086
5.

Linkage of typical pseudoachondroplasia to chromosome 19.

Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH.

Genomics. 1993 Dec;18(3):661-6.

PMID:
8307577
6.

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

Pulst SM, Graham JM Jr, Fain P, Barker D, Pribyl T, Korenberg JR.

Hum Genet. 1990 Jun;85(1):12-4.

PMID:
2162805
7.

Clinical and genetic heterogeneity of hypochondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M.

J Med Genet. 1996 Sep;33(9):749-52.

8.

A locus for autosomal dominant anterior polar cataract on chromosome 17p.

Berry V, Ionides AC, Moore AT, Plant C, Bhattacharya SS, Shiels A.

Hum Mol Genet. 1996 Mar;5(3):415-9.

PMID:
8852669
9.

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF.

Somat Cell Mol Genet. 1991 Jul;17(4):421-5.

PMID:
1832239
10.

Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Aksentijevich I, Gruberg L, Pras E, Balow JE Jr, Kovo M, Gazit E, Dean M, Pras M, Kastner DL.

Hum Genet. 1993 Jul;91(6):527-34.

PMID:
8340105
11.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A.

Horm Res. 1996;45(1-2):108-10. Review.

PMID:
8742128
12.

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al.

Nat Genet. 1994 Apr;6(4):405-8.

PMID:
8054983
13.

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al.

Hum Mol Genet. 1995 Oct;4(10):1967-72.

PMID:
8595423
14.

A locus for autosomal dominant posterior polar cataract on chromosome 1p.

Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A.

Hum Mol Genet. 1997 Jan;6(1):47-51.

PMID:
9002669
15.

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

Koizumi T, MacDonald M, BĂșcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH.

Mamm Genome. 1992;3(1):23-7.

PMID:
1533802
16.

A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.

Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, Yang JD, Gao JJ, Qin W, Qian XQ, Wu SN, He L.

Am J Hum Genet. 2003 Aug;73(2):377-82. Epub 2003 Jun 12.

17.

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH.

Genomics. 1993 Dec;18(3):656-60.

PMID:
8307576
18.

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A.

Am J Hum Genet. 1997 Jun;60(6):1474-8.

19.

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF.

Am J Hum Genet. 2000 Nov;67(5):1309-13. Epub 2000 Sep 21.

20.

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.

Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S.

Ann Neurol. 1997 Apr;41(4):432-7.

PMID:
9124799

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