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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Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation
Frapsauce, C., Ravel, C., Legendre, M., Sibony, M., Mandelbaum, J., Donadille, B., Achermann, J.C., Siffroi, J.-P., Christin-Maitre, S.
Published in Human reproduction (Oxford) (01.03.2011)
Published in Human reproduction (Oxford) (01.03.2011)
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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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Identification of transcripts by macroarrays, RT–PCR and in situ hybridization in human ejaculate spermatozoa
Dadoune, J.P., Pawlak, A., Alfonsi, M.F., Siffroi, J.P.
Published in Molecular human reproduction (01.02.2005)
Published in Molecular human reproduction (01.02.2005)
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Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men
Gekas, J., Thepot, F., Turleau, C., Siffroi, J.P., Dadoune, J.P., Briault, S., Rio, M., Bourouillou, G., Carré-Pigeon, F., Wasels, R., Benzacken, B., Association des Cytogeneticiensde Langue Francaise, The
Published in Human reproduction (Oxford) (01.01.2001)
Published in Human reproduction (Oxford) (01.01.2001)
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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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Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
Aknin-Seifer, I.E., Touraine, R.L., Lejeune, H., Jimenez, C., Chouteau, J., Siffroi, J.P., McElreavey, K., Bienvenu, T., Patrat, C., Levy, R.
Published in Human reproduction (Oxford) (01.03.2005)
Published in Human reproduction (Oxford) (01.03.2005)
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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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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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Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome
Graff, A, Donadille, B, Morel, H, Villy, M C, Bourcigaux, N, Vatier, C, Borgel, A, Khodawardi, A, Siffroi, J P, Christin-Maitre, S
Published in Human reproduction (Oxford) (01.10.2020)
Published in Human reproduction (Oxford) (01.10.2020)
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A high frequency of Y chromosome deletions in males with nonidiopathic infertility
KRAUSZ, C, QUINTANA-MURCI, L, TAAR, J. P, TAR, A, JEANDIDIER, E, PLESSIS, G, BOURGERON, T, DADOUNE, J.-P, FELLOUS, M, MCELREAVEY, K, BARBAUX, S, SIFFROI, J.-P, ROUBA, H, DELAFONTAINE, D, SOULEYREAU-THERVILLE, N, ARVIS, G, ANTOINE, J. M, ERDEI, E
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
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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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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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Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma
Bourcigaux, N, Rubino, C, Berthaud, I, Toubert, M E, Donadille, B, Leenhardt, L, Petrot-Keller, I, Brailly-Tabard, S, Fromigué, J, de Vathaire, F, Simon, T, Siffroi, J P, Schlumberger, M, Bouchard, P, Christin-Maitre, S
Published in Human reproduction (Oxford) (01.08.2018)
Published in Human reproduction (Oxford) (01.08.2018)
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Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
Vialard, F, Ottolenghi, C, Gonzales, M, Choiset, A, Girard, S, Siffroi, J P, McElreavey, K, Vibert-Guigue, C, Sebaoun, M, Joyé, N, Portnoï, M F, Jaubert, F, Fellous, M
Published in Journal of medical genetics (01.07.2002)
Published in Journal of medical genetics (01.07.2002)
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Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism
Krausz, Csilla, Quintana-Murci, Lluis, Fellous, Marc, Siffroi, Jean-Pierre, McElreavey, Ken
Published in Molecular human reproduction (01.04.2000)
Published in Molecular human reproduction (01.04.2000)
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Lack of submicroscopic rearrangements involving telomeres in reproductive failures
Benzacken, B., Carbillon, L., Dupont, C., Siffroi, J.P., Monier-Gavelle, F., Bucourt, M., Uzan, M., Wolf, J.P.
Published in Human reproduction (Oxford) (01.05.2002)
Published in Human reproduction (Oxford) (01.05.2002)
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Y chromosome microdeletions and germinal mosaicism in infertile males
Le Bourhis, Corine, Siffroi, Jean Pierre, McElreavey, Ken, Dadoune, Jean Pierre
Published in Molecular human reproduction (01.08.2000)
Published in Molecular human reproduction (01.08.2000)
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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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