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Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Eur J Med Genet. 2009 Sep-Oct;52(5):321-7. doi: 10.1016/j.ejmg.2009.05.010. Epub 2009 May 23.
Eur J Med Genet. 2009.
PMID: 19467348
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.
Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F.
Marlin S, et al. Among authors: chantot s.
Am J Med Genet A. 2010 Jun;152A(6):1510-4. doi: 10.1002/ajmg.a.33242.
Am J Med Genet A. 2010.
PMID: 20503327
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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: chantot s.
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.
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Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.
Ravel C, El Houate B, Chantot S, Lourenço D, Dumaine A, Rouba H, Bandyopadahyay A, Radhakrishna U, Das B, Sengupta S, Mandelbaum J, Siffroi JP, McElreavey K.
Ravel C, et al. Among authors: chantot s.
Mol Hum Reprod. 2006 Oct;12(10):643-6. doi: 10.1093/molehr/gal063. Epub 2006 Aug 3.
Mol Hum Reprod. 2006.
PMID: 16888075
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Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Maupetit-Méhouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynes C, Perez de Nanclares G, Keren B, Chantot S, Barlier A, Linglart A, Netchine I.
Maupetit-Méhouas S, et al. Among authors: chantot s.
Hum Mutat. 2013 Aug;34(8):1172-80. doi: 10.1002/humu.22352. Epub 2013 May 28.
Hum Mutat. 2013.
PMID: 23649963
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Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M.
Mani R, et al. Among authors: chantot s.
Hum Mutat. 2020 Jan;41(1):115-121. doi: 10.1002/humu.23905. Epub 2019 Sep 15.
Hum Mutat. 2020.
PMID: 31469207
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.
Olcese C, et al. Among authors: chantot s.
Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.
Nat Commun. 2017.
PMID: 28176794
Free PMC article.
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CMV-IGG avidity and CMV-IGM concentration in both immunocompromised and immunocompetent patients.
Dussaix E, Chantot S, Harzic M, Grangeot-Keros L.
Dussaix E, et al. Among authors: chantot s.
Pathol Biol (Paris). 1996 May;44(5):405-10.
Pathol Biol (Paris). 1996.
PMID: 8758485
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