Munnich A - Search Results

1

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A, Odièvre M. Labrune P, et al. Among authors: munnich a. Hum Genet. 1994 Dec;94(6):693-7. doi: 10.1007/BF00206965. Hum Genet. 1994. PMID: 7989045

2

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: munnich a. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.

3

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Among authors: munnich a. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

4

Two distinct mutations at a single BamHI site in phenylketonuria.

Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: munnich a. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.

5

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

6

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hentzen D, et al. Among authors: munnich a. Hum Genet. 1991 Dec;88(2):153-6. doi: 10.1007/BF00206063. Hum Genet. 1991. PMID: 1721894

7

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

8

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Sheth P, Abdelhak S, Bachelot MF, Burlet P, Masset M, Hillaire D, Clerget-Darpoux F, Frézal J, Lathrop GM, Munnich A, et al. Sheth P, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):764-8. Am J Hum Genet. 1991. PMID: 2014799 Free PMC article.

9

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S. Labrune P, et al. Among authors: munnich a. Am J Hum Genet. 1991 Jun;48(6):1115-20. Am J Hum Genet. 1991. PMID: 2035532 Free PMC article.

10

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

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