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Items: 1 to 20 of 111

1.

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

Ellsworth RE, Ionasescu V, Searby C, Sheffield VC, Braden VV, Kucaba TA, McPherson JD, Marra MA, Green ED.

Genome Res. 1999 Jun;9(6):568-74.

2.

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.

Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG.

J Neurol Sci. 1998 Nov 26;161(1):23-8.

PMID:
9879677
3.

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.

Kuhlenbäumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stögbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V.

Genomics. 1999 Dec 1;62(2):242-50.

PMID:
10610718
4.

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R.

Hum Mol Genet. 1996 Sep;5(9):1373-5.

PMID:
8872480
5.

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM.

Neurogenetics. 1997 Sep;1(2):89-93.

PMID:
10732809
6.

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.

Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 7.

7.
8.

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, Beuten J.

Genomics. 2000 Apr 1;65(1):34-43.

PMID:
10777663
9.

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.

Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC.

Genomics. 2000 Sep 1;68(2):220-8.

PMID:
10964520
10.

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.

Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV.

Eur J Hum Genet. 2001 Aug;9(8):646-50.

11.

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.

Gemignani F, Marbini A.

J Neurol Sci. 2001 Feb 15;184(1):1-9. Review.

PMID:
11231025
12.

Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig.

Maddox LO, Menold MM, Bass MP, Rogala AR, Pericak-Vance MA, Vance JM, Gilbert JR.

Genomics. 1999 Dec 15;62(3):325-31.

PMID:
10644429
13.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

Engert JC, Doré C, Mercier J, Ge B, Bétard C, Rioux JD, Owen C, Bérubé P, Devon K, Birren B, Melançon SB, Morgan K, Hudson TJ, Richter A.

Genomics. 1999 Dec 1;62(2):156-64.

PMID:
10610707
14.

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E.

Am J Hum Genet. 1999 Sep;65(3):722-7.

15.

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.

Ben Othmane K, Rochelle JM, Ben Hamida M, Slotterbeck B, Rao N, Hentati F, Pericak-Vance MA, Vance JM.

Neurogenetics. 1998 Dec;2(1):18-23.

PMID:
9933296
16.

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.

Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S.

Neurology. 1997 Dec;49(6):1630-5.

PMID:
9409358
17.

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.

Yoshioka R, Dyck PJ, Chance PF.

Neurology. 1996 Feb;46(2):569-71.

PMID:
8614538
18.

A 2-Mb sequence-ready contig map and a novel immunoglobulin superfamily gene IGSF4 in the LOH region of chromosome 11q23.2.

Gomyo H, Arai Y, Tanigami A, Murakami Y, Hattori M, Hosoda F, Arai K, Aikawa Y, Tsuda H, Hirohashi S, Asakawa S, Shimizu N, Soeda E, Sakaki Y, Ohki M.

Genomics. 1999 Dec 1;62(2):139-46.

PMID:
10610705
19.

Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig.

Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M.

Genes Chromosomes Cancer. 2001 Jul;31(3):228-39.

PMID:
11391793
20.

High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region.

Lee H, Choi E, Seomun Y, Montgomery K, Huebner A, Lee E, Lau S, Joo CK, Kucherlapati R, Yoon SJ.

Genome Res. 2000 Oct;10(10):1561-7.

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