Management of congenital ichthyoses

Autor: J. Mazereeuw‐Hautier, A. Vahlquist, H. Traupe, A. Bygum, C. Amaro, M. Aldwin, A. Audouze, C. Bodemer, E. Bourrat, A. Diociaiuti, M. Dolenc‐Voljc, I. Dreyfus, M. El Hachem, J. Fischer, A. Gånemo, C. Gouveia, R. Gruber, S. Hadj‐Rabia, D. Hohl, N. Jonca, K. Ezzedine, D. Maier, R. Malhotra, M. Rodriguez, H. Ott, D.G. Paige, A. Pietrzak, F. Poot, M. Schmuth, J.C. Sitek, P. Steijlen, G. Wehr, M. Moreen, E.A. O'Toole, V. Oji, A. Hernandez‐Martin

Publikováno v: Mazereeuw-Hautier, J, Vahlquist, A, Traupe, H, Bygum, A, Amaro, C, Aldwin, M, Audouze, A, Bodemer, C, Bourrat, E, Diociaiuti, A, Dolenc-Voljc, M, Dreyfus, I, El Hachem, M, Fischer, J, Gånemo, A, Gouveia, C, Gruber, R, Hadj-Rabia, S, Hohl, D, Jonca, N, Ezzedine, K, Maier, D, Malhotra, R, Rodriguez, M, Ott, H, Paige, D G, Pietrzak, A, Poot, F, Schmuth, M, Sitek, J C, Steijlen, P, Wehr, G, Moreen, M, O'Toole, E A, Oji, V & Hernandez-Martin, A 2019, ' Management of congenital ichthyoses : European guidelines of care, part one ', British Journal of Dermatology, vol. 180, no. 2, pp. 272-281 . https://doi.org/10.1111/bjd.17203
British Journal of Dermatology, 180(2), 272-281. Wiley
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (2), pp.272-281. ⟨10.1111/bjd.17203⟩

International audience; These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d6bfbac56f7a1d9d7f1119f5eb84f
https://doi.org/10.1111/bjd.17203

The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities

Autor: Antoine Huart, Isabelle Fauquet, François Isus, Eric Bieth, Dominique Chauveau, Roger Mieusset, M. Daudin, Laetitia Monteil, Stanislas Faguer, Patrick Calvas, Cathy Prouheze, Louis Bujan, Nicolas Chassaing

Publikováno v: Journal of Nephrology
Journal of Nephrology, Italian Society of Nephrology/Springer, 2017, 30 (2), pp.211-218. ⟨10.1007/s40620-016-0286-5⟩

International audience; Background: While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e58d8809ae18fc6b95e49420a8f5cca
https://doi.org/10.1007/s40620-016-0286-5

Dépistage du trait drépanocytaire en médecine générale, retour d’une année d’expérience dans le Nord-Est parisien

Autor: colmant, aurélie

Publikováno v: Médecine humaine et pathologie. 2016

Background: sickle cell disease (SCD) is the first genetic disease in France. Screening sickle cell carriers is possible with heamoglobin study and must be done before a possible pregnancy. Couples at risk can anticipate and decide if they want to ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1eaa9560475fde6432eea21ab1f0c2b1
https://dumas.ccsd.cnrs.fr/dumas-01583269

New clinical and molecular insights into Silver–Russell syndrome

Autor: Frédéric Brioude, Eloïse Giabicani, Irène Netchine

Publikováno v: Current Opinion in Pediatrics
Current Opinion in Pediatrics, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
Current Opinion in Pediatrics, Lippincott, Williams & Wilkins, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩

The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS).Various teams have described the clinical characteristics of SRS patients by genot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e963805d493e3a287c54f9ea20a9eb29
https://hal.science/hal-02006402

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

Autor: Laurent Pasquier, Chloé Quélin, Véronique David, Sylvie Jaillard, Isabelle Gicquel, Marion Belleguic, Philippe Loget, Sandra Mercier, Christèle Dubourg, Sylvie Odent, Valérie Dupé, Nicolas Garcelon, Lucie Rochard, Claude Bendavid, Boris Campillo-Gimenez, Leslie Ratié

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩

International audience; BACKGROUND: Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. METHODS: A large European series of 645 HPE probands (and 699 relatives), co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0795f8110528966f9170b0bc4ba0bdec
https://www.hal.inserm.fr/inserm-00626407/document