Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
Lavillaureix, A., Heide, S., Chantot‐Bastaraud, S., Marey, I., Keren, B., Grigorescu, R., Jouannic, J.M., Gelot, A., Whalen, S., Héron, D., Siffroi, J.P.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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Journal Article
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., McElreavey, K.
Published in Molecular human reproduction (01.09.2007)
Published in Molecular human reproduction (01.09.2007)
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Journal Article
Mutations in the protamine 1 gene associated with male infertility
Ravel, C., Chantot-Bastaraud, S., El Houate, B., Berthaut, I., Verstraete, L., De Larouziere, V., Lourenço, D., Dumaine, A., Antoine, J.M., Mandelbaum, J., Siffroi, J.P., McElreavey, K.
Published in Molecular human reproduction (01.07.2007)
Published in Molecular human reproduction (01.07.2007)
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Journal Article
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, J.P., McElreavey, K.
Published in Molecular human reproduction (01.10.2006)
Published in Molecular human reproduction (01.10.2006)
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Journal Article
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, M.F., Chantot, S., Jonard, L., Mantel‐Guiochon, A., Siffroi, J.P., Garabedian, E.N., Denoyelle, F.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Journal Article
Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency
Hyon, C, Mansour-Hendili, L, Chantot-Bastaraud, S, Donadille, B, Kerlan, V, Dodé, C, Jonard, S, Delemer, B, Gompel, A, Reznik, Y, Touraine, P, Siffroi, J. P, Christin-Maitre, S
Published in The journal of clinical endocrinology and metabolism (01.05.2016)
Published in The journal of clinical endocrinology and metabolism (01.05.2016)
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Journal Article
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot‐Bastaraud, S., Doco‐Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca‐Boidron, A.‐L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A.‐M., Chambon, P., Satre, V., Coutton, C., Jouk, P.‐S., Devillard, F., Dieterich, K., Afenjar, A., Burglen, L., Moutard, M.‐L., Addor, M.‐C., Lebon, S., Martinet, D., Alessandri, J.‐L., Doray, B., Miguet, M., Devys, D., Saugier‐Veber, P., Drunat, S., Aral, B., Kremer, V., Rondeau, S., Tabet, A.‐C., Thevenon, J., Thauvin‐Robinet, C., Perreton, N., Des Portes, V., Faivre, L.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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Journal Article
New insights in genetic diagnosis of congenital/very early-onset ataxia using new-generation sequencing
Burglen, L, Haye, D, Valence, S, Afenjar, A, Chantot-Bastaraud, S, Rougeot, C, Riquet, A, Garel, C, Rodriguez, D
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Structural chromosomal mosaicism and prenatal diagnosis
Pipiras, E., Dupont, C., Chantot-Bastaraud, S., Siffroi, J. P., Bucourt, M., Batallan, A., Largillière, C., Uzan, M., Wolf, J. P., Benzacken, B.
Published in Prenatal diagnosis (01.02.2004)
Published in Prenatal diagnosis (01.02.2004)
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Journal Article
Quality assessment of induced spermatogenesis in hypogonadotrophic hypogonadic men treated with gonadotrophins
Krabchi, K, Berthaut, I, Chantot-Bastaraud, S, Ravel, C, Chabbert-Buffet, N, de Larouzière, V, Bouchard, P, Mandelbaum, J, Siffroi, J.-P, Christin-Maitre, S
Published in Reproductive biomedicine online (01.03.2011)
Published in Reproductive biomedicine online (01.03.2011)
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Journal Article
Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility
Chantot-Bastaraud, S., Ravel, C., Berthaut, I., McElreavey, K., Bouchard, P., Mandelbaum, J., Siffroi, J.P.
Published in Molecular human reproduction (01.01.2007)
Published in Molecular human reproduction (01.01.2007)
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Journal Article
CMV-IGG avidity and CMV-IGM concentration in both immunocompromised and immunocompetent patients
Dussaix, E, Chantot, S, Harzic, M, Grangeot-Keros, L
Published in Pathologie biologie (Paris) (01.05.1996)
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Published in Pathologie biologie (Paris) (01.05.1996)
Journal Article
Retard sévère de croissance, déficit psychomoteur, dysmorphie faciale – un cas de duplication de novo 15q21.2–q24.1
Braha, E, Rusu, C, Chantot-Bastaraud, S, Netchine, I, Manolachie, A, Crumpei, I, Fadur, A, Armasu, I, Vulpoi, C
Published in Annales d'endocrinologie (01.10.2014)
Published in Annales d'endocrinologie (01.10.2014)
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Journal Article
Possible Implication of RNF135 in High Type 1 Neurofibromatosis Tumoral Risk
M, Schwartz, S, Heide, A, Benzarti, D, Rordriguez, P, Marzin, F, Ader, Messaoud S, Larbi, K, Belhous, B, Keren, S, Whalen, Bastaraud S, Chantot, Pierre S, Jean
Published in Journal of molecular and genetic medicine (2018)
Published in Journal of molecular and genetic medicine (2018)
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Journal Article
Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements
Girard, F., Jaillard, S., Keren, B., Lespinasse, J., Marle, N., Masurel, A., Mathieu, M., Metay, C., Portnoi, M., Prieur, F., Rio, M., Siffroi, J., Schluth-Bolard, C., Sanlaville, D., Chatron, N., Diguet, F., Rollat-Farnier, P., Uguen, K., Zillhardt, J. Lauer, Sorlin, A., Andrieux, J., Chantot-Bastaraud, S., Callier, P., Cordier, M., Dubourg, C.
Published in European journal of human genetics : EJHG (2019)
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Published in European journal of human genetics : EJHG (2019)
Journal Article
Klinefelter syndrome: spermatogenesis and quality of gametes
Ravel, C, Chantot-Bastaraud, S, Cretet, J, Roynard, P, Sibony, M, Maurin, N, Belaud-Rotureau, M-A, Berthaut, I
Published in Gynécologie, obstétrique & fertilité (01.09.2011)
Published in Gynécologie, obstétrique & fertilité (01.09.2011)
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Journal Article
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers
Rouen, Alexandre, Balet, Richard, Dorna, Maud, Hyon, Capucine, Pollet-Villard, Xavier, Chantot-Bastaraud, Sandra, Joyé, Nicole, Portnoï, Marie-France, Cassuto, Nino Guy, Siffroi, Jean-Pierre
Published in Human reproduction (Oxford) (01.07.2013)
Published in Human reproduction (Oxford) (01.07.2013)
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