Farrer LA - Search Results

1

Gender equality in Machado-Joseph disease.

DeStefano AL, Farrer LA, Maciel P, Gaspar C, Rouleau GA, Coutinho P, Sequeiros J. DeStefano AL, et al. Among authors: farrer la. Nat Genet. 1995 Oct;11(2):118-9. doi: 10.1038/ng1095-118b. Nat Genet. 1995. PMID: 7550334 No abstract available.

2

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).

Carson WJ, Radvany J, Farrer LA, Vincent D, Rosenberg RN, MacLeod PM, Rouleau GA. Carson WJ, et al. Among authors: farrer la. Genomics. 1992 Jul;13(3):852-5. doi: 10.1016/0888-7543(92)90168-r. Genomics. 1992. PMID: 1639414

3

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

Twist EC, Casaubon LK, Ruttledge MH, Rao VS, Macleod PM, Radvany J, Zhao Z, Rosenberg RN, Farrer LA, Rouleau GA. Twist EC, et al. Among authors: farrer la. J Med Genet. 1995 Jan;32(1):25-31. doi: 10.1136/jmg.32.1.25. J Med Genet. 1995. PMID: 7897622 Free PMC article.

4

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.

Twist EC, Farrer LA, Macleod PM, Radvany J, Chamberlain S, Rosenberg RN, Rouleau GA. Twist EC, et al. Among authors: farrer la. Hum Genet. 1994 Mar;93(3):335-8. doi: 10.1007/BF00212034. Hum Genet. 1994. PMID: 8125487

5

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B. Baldwin CT, et al. Among authors: farrer la. Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637. Hum Mol Genet. 1995. PMID: 8541853

6

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Among authors: farrer la. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.

7

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.

Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. Lautenschlager NT, et al. Genet Anal. 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. Genet Anal. 1996. PMID: 8880147

8

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.

Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA. Gaspar C, et al. Among authors: farrer la. Hum Genet. 1996 Nov;98(5):620-4. doi: 10.1007/s004390050270. Hum Genet. 1996. PMID: 8882886

9

Detecting linkage for a complex disease using simulated extended pedigrees.

DeStefano AL, Cupples LA, Myers RH, Farrer LA. DeStefano AL, et al. Among authors: farrer la. Genet Epidemiol. 1997;14(6):981-6. doi: 10.1002/(SICI)1098-2272(1997)14:6<981::AID-GEPI70>3.0.CO;2-G. Genet Epidemiol. 1997. PMID: 9433611

10

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Among authors: farrer la. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

481 results

Search Page

Filters