Misrahi M - Search Results

1

Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.

Heddar A, Misrahi M. Heddar A, et al. Among authors: misrahi m. Hum Genet. 2021 Apr;140(4):691-694. doi: 10.1007/s00439-020-02232-5. Epub 2020 Nov 5. Hum Genet. 2021. PMID: 33151384 No abstract available.

2

BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve.

Mayer A, Fouquet B, Pugeat M, Misrahi M. Mayer A, et al. Among authors: misrahi m. Clin Genet. 2017 Aug;92(2):208-212. doi: 10.1111/cge.12970. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28094433

3

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M. Fouquet B, et al. Among authors: misrahi m. Elife. 2017 Dec 12;6:e30490. doi: 10.7554/eLife.30490. Elife. 2017. PMID: 29231814 Free PMC article.

4

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M. Huhtaniemi I, et al. Among authors: misrahi m. Trends Endocrinol Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26. Trends Endocrinol Metab. 2018. PMID: 29706485 Free article. Review.

5

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency.

Heddar A, Dessen P, Flatters D, Misrahi M. Heddar A, et al. Among authors: misrahi m. Mol Genet Genomics. 2019 Dec;294(6):1527-1534. doi: 10.1007/s00438-019-01594-4. Epub 2019 Jul 30. Mol Genet Genomics. 2019. PMID: 31363903

6

A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.

Heddar A, Beckers D, Fouquet B, Roland D, Misrahi M. Heddar A, et al. Among authors: misrahi m. J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa155. doi: 10.1210/clinem/dgaa155. J Clin Endocrinol Metab. 2020. PMID: 32242235

7

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.

Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S, Livera G, Lopez BS, Misrahi M. Caburet S, et al. Among authors: misrahi m. J Med Genet. 2020 Jun 1:jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672. Online ahead of print. J Med Genet. 2020. PMID: 32482800

8

Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?

Heddar A, Misrahi M. Heddar A, et al. Among authors: misrahi m. Hum Mutat. 2020 Sep;41(9):1697-1699. doi: 10.1002/humu.24077. Hum Mutat. 2020. PMID: 32851770 No abstract available.

9

Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Heddar A, Misrahi M. Heddar A, et al. Among authors: misrahi m. Clin Transl Gastroenterol. 2020 Aug;11(8):e00180. doi: 10.14309/ctg.0000000000000180. Clin Transl Gastroenterol. 2020. PMID: 32955204 Free PMC article. No abstract available.

10

Correction to: Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Heddar A, Misrahi M. Heddar A, et al. Among authors: misrahi m. Clin Transl Gastroenterol. 2020 Sep;11(9):e00248. doi: 10.14309/ctg.0000000000000248. Clin Transl Gastroenterol. 2020. PMID: 33094952 Free PMC article. No abstract available.

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