Petit C - Search Results

1

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C. Marlin S, et al. Among authors: petit c. Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10533063

2

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.

del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G, Petit C. del Castillo I, et al. Among authors: petit c. Nat Genet. 1992 Dec;2(4):305-10. doi: 10.1038/ng1292-305. Nat Genet. 1992. PMID: 1303284

3

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C. Guilford P, et al. Among authors: petit c. Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989. Hum Mol Genet. 1994. PMID: 7951250

4

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. Guilford P, et al. Among authors: petit c. Nat Genet. 1994 Jan;6(1):24-8. doi: 10.1038/ng0194-24. Nat Genet. 1994. PMID: 8136828

5

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

Weil D, Portnoï MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C. Weil D, et al. Among authors: petit c. Hum Mol Genet. 1993 Nov;2(11):1853-6. doi: 10.1093/hmg/2.11.1853. Hum Mol Genet. 1993. PMID: 8281147

6

A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

Slim R, Levilliers J, Lüdecke HJ, Claussen U, Nguyen VC, Gough NM, Horsthemke B, Petit C. Slim R, et al. Among authors: petit c. Genomics. 1993 Apr;16(1):26-33. doi: 10.1006/geno.1993.1135. Genomics. 1993. PMID: 8486369

7

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Hardelin JP, et al. Among authors: petit c. Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373. Hum Mol Genet. 1993. PMID: 8504298

8

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C. Weil D, et al. Among authors: petit c. Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3232-7. doi: 10.1073/pnas.93.8.3232. Proc Natl Acad Sci U S A. 1996. PMID: 8622919 Free PMC article.

9

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.

Chaïb H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, El-Zir E, Loiselet J, Petit C. Chaïb H, et al. Among authors: petit c. Hum Mol Genet. 1996 Jan;5(1):155-8. doi: 10.1093/hmg/5.1.155. Hum Mol Genet. 1996. PMID: 8789454

10

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C. Chaib H, et al. Among authors: petit c. Hum Mol Genet. 1996 Jul;5(7):1061-4. doi: 10.1093/hmg/5.7.1061. Hum Mol Genet. 1996. PMID: 8817348

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

1,068 results

Search Page

Filters