Polymorphisms of MAMLD1 gene in hypospadias
Kalfa, N, Cassorla, F, Audran, F, Oulad Abdennabi, I, Philibert, P, Béroud, C, Guys, J.M, Reynaud, R, Alessandrini, P, Wagner, K, Bréaud, J, Valla, J.S, Morisson Lacombe, G, Daures, J.P, Baskin, L, Fukami, M, Ogata, T, Sultan, C
Published in Journal of pediatric urology (01.12.2011)
Published in Journal of pediatric urology (01.12.2011)
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Journal Article
1590 Inguinal Hernia in “Girls” Rarely Reveals Complete Androgen Insensitivity Syndrome
Kalfa, N, Paris, F, Andreica, A, Audran, F, Maillet, O, Philibert, P, Galifer, RB, Sultan, C
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Journal Article
Searching for somatic mutations in McCune–Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples
Kalfa, N, Philibert, P, Audran, F, Ecochard, A, Hannon, T, Lumbroso, S, Sultan, C
Published in European journal of endocrinology (01.12.2006)
Published in European journal of endocrinology (01.12.2006)
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Journal Article
1586 Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome
Kalfa, N, Philibert, P, Audran, F, Bashamboo, A, Lehors, H, Haddad, M, Guys, JM, Reynaud, R, Alessandrini, P, Wagner, K, Kurzenne, JY, Bastiani, F, Bréaud, J, Valla, J, Lacombe, GM, Orsini, M, Daures, JP, Paris, F, McElreavey, K, Sultan, C
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Journal Article
Undervirilization in XY newborns may hide a 5α‐reductase deficiency: report of three new SRD5A2 gene mutations
Maimoun, L, Philibert, P, Cammas, B, Audran, F, Pienkowski, C, Kurtz, F, Heinrich, C, Cartigny, M, Sultan, C
Published in International journal of andrology (01.12.2010)
Published in International journal of andrology (01.12.2010)
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Journal Article
Isolated 'idiopathic' micropenis: hidden genetic defects?
Paris, F., De Ferran, K., Bhangoo, A., Ten, S., Lahlou, N., Audran, F., Servant, N., Poulat, F., Philibert, P., Sultan, C.
Published in International journal of andrology (01.12.2011)
Published in International journal of andrology (01.12.2011)
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Journal Article
Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation
Kulshreshtha, B., Philibert, P., Eunice, M., Audran, F., Paris, F., Khurana, M. L., Ammini, A. C., Charles, S.
Published in Andrologia (01.08.2009)
Published in Andrologia (01.08.2009)
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Journal Article
Disorders of androgen action
Sultan, Charles, Lumbroso, Serge, Paris, Françoise, Jeandel, Claire, Terouanne, B, Belon, Charles, Audran, F, Poujol, N, Georget, V, Gobinet, J, Jalaguier, S, Auzou, G, Nicolas, J C
Published in Seminars in reproductive medicine (01.08.2002)
Published in Seminars in reproductive medicine (01.08.2002)
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Journal Article
A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis
Lumbroso, S, Wagschal, A, Bourguet, W, Georget, V, Mazen, I, Servant, N, Audran, F, Sultan, C, Auzou, G
Published in Journal of molecular endocrinology (01.06.2004)
Published in Journal of molecular endocrinology (01.06.2004)
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Journal Article
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study
Philibert, Pascal, Zenaty, Delphine, Lin, Lin, Soskin, Sylvie, Audran, Françoise, Léger, Juliane, Achermann, John C., Sultan, Charles
Published in Human reproduction (Oxford) (01.12.2007)
Published in Human reproduction (Oxford) (01.12.2007)
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Journal Article
Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling
Köhler, Birgit, Lumbroso, Serge, Leger, Juliane, Audran, Francoise, Grau, Enric Sarret, Kurtz, Francois, Pinto, Graziella, Salerno, Mariacarolina, Semitcheva, Tatiana, Czernichow, Paul, Sultan, Charles
Published in The journal of clinical endocrinology and metabolism (01.01.2005)
Published in The journal of clinical endocrinology and metabolism (01.01.2005)
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Journal Article
Activating Mutations of the Stimulatory G Protein in Juvenile Ovarian Granulosa Cell Tumors: A New Prognostic Factor?
Kalfa, Nicolas, Ecochard, Aude, Patte, Catherine, Duvillard, Pierre, Audran, Francoise, Pienkowski, Catherine, Thibaud, Elisabeth, Brauner, Raja, Lecointre, Claudine, Plantaz, Dominique, Guedj, Anne-Marie, Paris, Francoise, Baldet, Pierre, Lumbroso, Serge, Sultan, Charles
Published in The journal of clinical endocrinology and metabolism (01.05.2006)
Published in The journal of clinical endocrinology and metabolism (01.05.2006)
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Journal Article
High prevalence of micropenis in 2710 male newborns from an intensive-use pesticide area of Northeastern Brazil: Impact of Endocrine Disrupters on Reproductive Health: Proceedings of the 6th Copenhagen Workshop on Endocrine Disrupters, 26-29 April 2011
GASPARI, L, SAMPAIO, D. R, PARIS, F, AUDRAN, F, ORSINI, M, NETO, J. B, SULTAN, C
Published in International journal of andrology (2012)
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Published in International journal of andrology (2012)
Journal Article
An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects
Kohler, B, Pienkowski, C, Audran, F, Delsol, M, Tauber, M, Paris, F, Sultan, C, Lumbroso, S
Published in European journal of endocrinology (01.06.2004)
Published in European journal of endocrinology (01.06.2004)
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Journal Article
Mother-to-Son Transmission of a Luteinizing Hormone Receptor Activating Mutation in a Prepubertal Child with Testotoxicosis
Eunice, M., Philibert, P., Kulshreshtha, B., Audran, F., Paris, F., Sultan, C., Ammini, A.C.
Published in Journal of Pediatric Endocrinology and Metabolism (01.03.2009)
Published in Journal of Pediatric Endocrinology and Metabolism (01.03.2009)
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Journal Article
Isolated ‘idiopathic’ micropenis: hidden genetic defects?: Isolated ‘idiopathic’ micropenis
Paris, F., De Ferran, K., Bhangoo, A., Ten, S., Lahlou, N., Audran, F., Servant, N., Poulat, F., Philibert, P., Sultan, C.
Published in International journal of andrology (01.12.2011)
Published in International journal of andrology (01.12.2011)
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Journal Article
Aménorrhées XY de l’adolescente
Sultan, C., Philibert, P., Maimoun, L., Kalfa, N., Audran, F., Servant, N., Gaspari, L., Paris, F.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2011)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2011)
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