Garnier JM - Search Results

1

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S. Okutman O, et al. Among authors: garnier jm. J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11. J Assist Reprod Genet. 2017. PMID: 28401488 Free PMC article.

2

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Nicot AS, et al. Among authors: garnier jm. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5. Nat Genet. 2007. PMID: 17676042

3

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.

El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L. El-Saafin F, et al. Among authors: garnier jm. Hum Mol Genet. 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126. Hum Mol Genet. 2018. PMID: 29648665 Free PMC article.

4

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.

Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A. Imbert G, et al. Among authors: garnier jm. Nat Genet. 1996 Nov;14(3):285-91. doi: 10.1038/ng1196-285. Nat Genet. 1996. PMID: 8896557

5

Genomic structure and chromosomal mapping of the gene coding for ICBP90, a protein involved in the regulation of the topoisomerase IIalpha gene expression.

Hopfner R, Mousli M, Garnier JM, Redon R, du Manoir S, Chatton B, Ghyselinck N, Oudet P, Bronner C. Hopfner R, et al. Among authors: garnier jm. Gene. 2001 Mar 21;266(1-2):15-23. doi: 10.1016/s0378-1119(01)00371-7. Gene. 2001. PMID: 11290415

6

A screening method to identify genes commonly overexpressed in carcinomas and the identification of a novel complementary DNA sequence.

Byrne JA, Tomasetto C, Garnier JM, Rouyer N, Mattei MG, Bellocq JP, Rio MC, Basset P. Byrne JA, et al. Among authors: garnier jm. Cancer Res. 1995 Jul 1;55(13):2896-903. Cancer Res. 1995. PMID: 7796418

7

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C. Filisetti D, et al. Among authors: garnier jm. Eur J Hum Genet. 1999 Jul;7(5):615-9. doi: 10.1038/sj.ejhg.5200341. Eur J Hum Genet. 1999. PMID: 10439971

8

Transient expression of human and chicken progesterone receptors does not support alternative translational initiation from a single mRNA as the mechanism generating two receptor isoforms.

Kastner P, Bocquel MT, Turcotte B, Garnier JM, Horwitz KB, Chambon P, Gronemeyer H. Kastner P, et al. Among authors: garnier jm. J Biol Chem. 1990 Jul 25;265(21):12163-7. J Biol Chem. 1990. PMID: 2373686 Free article.

9

cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.

Sarde CO, Thomas J, Sadoulet H, Garnier JM, Mandel JL. Sarde CO, et al. Among authors: garnier jm. Mamm Genome. 1994 Dec;5(12):810-3. doi: 10.1007/BF00292021. Mamm Genome. 1994. PMID: 7894167 No abstract available.

10

TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.

Scheer E, Luo J, Bernardini A, Ruffenach F, Garnier JM, Kolb-Cheynel I, Gupta K, Berger I, Ranish J, Tora L. Scheer E, et al. Among authors: garnier jm. J Biol Chem. 2021 Nov;297(5):101288. doi: 10.1016/j.jbc.2021.101288. Epub 2021 Oct 9. J Biol Chem. 2021. PMID: 34634302 Free PMC article.

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