Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 24

1.

Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.

Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S.

Hum Mol Genet. 2000 May 22;9(9):1443-52.

PMID:
10814725
2.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG.

Am J Hum Genet. 2000 Feb;66(2):724-7.

3.

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM.

Cell. 1999 Dec 10;99(6):577-87.

4.

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R.

Am J Hum Genet. 1999 Dec;65(6):1666-71.

5.

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB.

J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. Review.

PMID:
10511339
6.

Ocular and oculomotor signs in Joubert syndrome.

Tusa RJ, Hove MT.

J Child Neurol. 1999 Oct;14(10):621-7.

PMID:
10511333
7.

Clinical features and revised diagnostic criteria in Joubert syndrome.

Maria BL, Boltshauser E, Palmer SC, Tran TX.

J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1.

PMID:
10488903
8.

Molecular analysis of neurotransmitter release.

Schiavo G, Stenbeck G.

Essays Biochem. 1998;33:29-41. Review.

PMID:
10488439
9.

Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.

Hassin-Baer S, Bar-Shira A, Gilad S, Galanty Y, Khosravi R, Lossos A, Giladi N, Weitz R, Ben-Zeev B, Goldhammer Y, Shiloh Y.

J Neurol. 1999 Aug;246(8):716-9.

PMID:
10460451
10.

Joubert's syndrome: new cases and review of clinicopathologic correlation.

Sztriha L, Al-Gazali LI, Aithala GR, Nork M.

Pediatr Neurol. 1999 Apr;20(4):274-81.

PMID:
10328276
11.

The mammalian Mre11-Rad50-nbs1 protein complex: integration of functions in the cellular DNA-damage response.

Petrini JH.

Am J Hum Genet. 1999 May;64(5):1264-9. Review. No abstract available.

12.

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR.

Am J Hum Genet. 1998 Mar;62(3):633-40.

13.

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A.

Am J Hum Genet. 1998 Mar;62(3):551-61.

14.

Mutations associated with variant phenotypes in ataxia-telangiectasia.

McConville CM, Stankovic T, Byrd PJ, McGuire GM, Yao QY, Lennox GG, Taylor MR.

Am J Hum Genet. 1996 Aug;59(2):320-30.

16.

A comprehensive genetic map of the human genome based on 5,264 microsatellites.

Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J.

Nature. 1996 Mar 14;380(6570):152-4.

PMID:
8600387
17.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
18.

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

Hernandez D, McConville CM, Stacey M, Woods CG, Brown MM, Shutt P, Rysiecki G, Taylor AM.

J Med Genet. 1993 Feb;30(2):135-40.

19.
20.

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y.

Science. 1995 Jun 23;268(5218):1749-53.

PMID:
7792600
Items per page

Supplemental Content

Support Center