What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
Mayeur, A, Magnan, F, Mathieu, S, Rubens, P, Sperelakis Beedham, B, Sonigo, C, Steffann, J, Frydman, N
Published in Human reproduction (Oxford) (03.04.2024)
Published in Human reproduction (Oxford) (03.04.2024)
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Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield
Alabdullatif, Z., Coulombe, J., Steffann, J., Bodemer, C., Hadj‐Rabia, S.
Published in British journal of dermatology (1951) (01.04.2018)
Published in British journal of dermatology (1951) (01.04.2018)
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Journal Article
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
Sonigo, C, Mayeur, A, Sadoun, M, Pinto, M, Benguigui, J, Frydman, N, Monnot, S, Benachi, A, Steffann, J, Grynberg, M
Published in Human reproduction (Oxford) (18.10.2021)
Published in Human reproduction (Oxford) (18.10.2021)
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Journal Article
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre
Kuleva, M, Ben Miled, S, Steffann, J, Bonnefont, JP, Rondeau, S, Ville, Y, Munnich, A, Salomon, LJ
Published in BJOG : an international journal of obstetrics and gynaecology (01.10.2019)
Published in BJOG : an international journal of obstetrics and gynaecology (01.10.2019)
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The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations
Bellon, N., Hadj‐Rabia, S., Moulin, F., Lambe, C., Lezmi, G., Charbit‐Henrion, F., Alby, C., Le Saché‐de Peufeilhoux, L., Leclerc‐Mercier, S., Hadchouel, A., Steffann, J., Hovnanian, A., Lapillonne, A., Bodemer, C.
Published in British journal of dermatology (1951) (01.03.2021)
Published in British journal of dermatology (1951) (01.03.2021)
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Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti
Bodemer, C., Diociaiuti, A., Hadj‐Rabia, S., Robert, M.P., Desguerre, I., Manière, M.‐C., Dure‐Molla, M., De Liso, P., Federici, M., Galeotti, A., Fusco, F., Fraitag, S., Demily, C., Taieb, C., Valeria Ursini, M., El Hachem, M., Steffann, J.
Published in Journal of the European Academy of Dermatology and Venereology (01.07.2020)
Published in Journal of the European Academy of Dermatology and Venereology (01.07.2020)
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The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study
Kakourou, G, Kahraman, S, Ekmekci, G C, Tac, H A, Kourlaba, G, Kourkouni, E, Sanz, A Cervero, Martin, J, Malmgren, H, Giménez, C, Gold, V, Carvalho, F, Billi, C, Chow, J F C, Vendrell, X, Kokkali, G, Liss, J, Steffann, J, Traeger-Synodinos, J
Published in Human reproduction (Oxford) (01.03.2018)
Published in Human reproduction (Oxford) (01.03.2018)
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Journal Article
EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations
Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J., Rondeau, S., Ville, Y., Munnich, A., Salomon, L.J.
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
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Journal Article
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
Leroy, C., Jacquemont, M.-L., Doray, B., Lamblin, D., Cormier-Daire, V., Philippe, A., Nusbaum, S., Patrat, C., Steffann, J., Colleaux, L., Vekemans, M., Romana, S., Turleau, C., Malan, V.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Journal Article
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
Lebre, A S, Rio, M, Faivre d'Arcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, Boddaert, N
Published in Journal of medical genetics (01.01.2011)
Published in Journal of medical genetics (01.01.2011)
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A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome
Assouline, Z., Jambou, M., Rio, M., Bole-Feysot, C., de Lonlay, P., Barnerias, C., Desguerre, I., Bonnemains, C., Guillermet, C., Steffann, J., Munnich, A., Bonnefont, J.P., Rötig, A., Lebre, A.S.
Published in Biochimica et biophysica acta (01.06.2012)
Published in Biochimica et biophysica acta (01.06.2012)
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Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
Steffann, J, Frydman, N, Gigarel, N, Burlet, P, Ray, P F, Fanchin, R, Feyereisen, E, Kerbrat, V, Tachdjian, G, Bonnefont, J-P, Frydman, R, Munnich, A
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article
Unique subungueal keratoacanthoma revealing incontinentia pigmenti
Ferneiny, M., Hadj-Rabia, S., Regnier, S., Ortonne, N., Smahi, A., Steffann, J., Bonnefont, J.-P., Fraitag, S., Chosidow, O., Bodemer, C.
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2016)
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2016)
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Journal Article
Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
Steffann, J, Gigarel, N, Corcos, J, Bonnière, M, Encha-Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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Journal Article
Multiple displacement amplification improves PGD for fragile X syndrome
Burlet, P., Frydman, N., Gigarel, N., Kerbrat, V., Tachdjian, G., Feyereisen, E., Bonnefont, J.-P., Frydman, R., Munnich, A., Steffann, J.
Published in Molecular human reproduction (01.10.2006)
Published in Molecular human reproduction (01.10.2006)
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Journal Article
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development
Bouchet, C, Steffann, J, Corcos, J, Monnot, S, Paquis, V, Rötig, A, Lebon, S, Levy, P, Royer, G, Giurgea, I, Gigarel, N, Benachi, A, Dumez, Y, Munnich, A, Bonnefont, J P
Published in Journal of medical genetics (01.10.2006)
Published in Journal of medical genetics (01.10.2006)
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Journal Article
Successful pre-implantation genetic diagnosis for Hirschsprung disease
Burlet, P, Steichen, C, Hesters, L, Gigarel, N, Kerbrat, V, Frydman, R, Munnich, A, Amiel, J, Frydman, N, Steffann, J
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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Journal Article
Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?
Feyereisen, E., Amar, A., Kerbrat, V., Steffann, J., Munnich, A., Vekemans, M., Frydman, R., Frydman, N.
Published in Human reproduction (Oxford) (01.01.2006)
Published in Human reproduction (Oxford) (01.01.2006)
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