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Year Number of Results
1993 1
1994 2
1996 2
1997 4
1998 4
1999 1
2000 1
2012 1
2017 1
2019 3
2020 2
2022 0
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Page 1
Molecular basis of inherited growth hormone resistance in childhood.
Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M. Amselem S, et al. Among authors: dastot f. Baillieres Clin Endocrinol Metab. 1996 Jul;10(3):353-69. doi: 10.1016/s0950-351x(96)80485-x. Baillieres Clin Endocrinol Metab. 1996. PMID: 8853444 Review.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B. Blanchon S, et al. Among authors: dastot f. J Med Genet. 2020 Apr;57(4):237-244. doi: 10.1136/jmedgenet-2019-106424. Epub 2019 Nov 26. J Med Genet. 2020. PMID: 31772028
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Touré A, Mitchell V, Amselem S, Legendre M. Thomas L, et al. Among authors: dastot f. Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23. Am J Hum Genet. 2020. PMID: 31978331 Free PMC article.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M. Cohen E, et al. Among authors: dastot f. Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6. Hum Mutat. 2019. PMID: 31231873
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M. Whitfield M, et al. Among authors: dastot f. Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178125 Free PMC article.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M. Cohen E, et al. Among authors: dastot f. J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158. J Clin Endocrinol Metab. 2017. PMID: 27820671
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S. Blanchon S, et al. Among authors: dastot f. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
Phenotype: genotype relationships in growth hormone insensitivity syndrome.
Woods KA, Dastot F, Preece MA, Clark AJ, Postel-Vinay MC, Chatelain PG, Ranke MB, Rosenfeld RG, Amselem S, Savage MO. Woods KA, et al. Among authors: dastot f. J Clin Endocrinol Metab. 1997 Nov;82(11):3529-35. doi: 10.1210/jcem.82.11.4389. J Clin Endocrinol Metab. 1997. PMID: 9360502
21 results