Reproductive male partner testing when the female is identified to be a genetic disease carrier

Autor: Shama Khan, Laurie Simone, Gary A. Heiman, Julia Lin, Molly Ciarlariello, Sarah Trackman, Elena Ashkinadze

Publikováno v: Prenatal Diagnosis. 41:21-27

OBJECTIVE To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand reasons for declining testing (uptake rate). METHODS A retrospective chart review of 513 femal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edae93230e231f1306f09cc8dab3155c
https://doi.org/10.1002/pd.5824

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Autor: Bertrand Isidor, Rami Abou Jamra, Virginie Carmignac, Yannis Duffourd, Helio Pedro, Eriko Koshimizu, Maja Hempel, Tobias Bartolomaeus, Martin Chevarin, Floor A. M. Duijkers, Maria J. Guillen Sacoto, Erin Torti, David Geneviève, David J. Harris, Valerie Loik Ramey, Klaske D. Lichtenbelt, Arthur Sorlin, Miriam Maik, Anne Guimier, Paul Kuentz, Tatjana Bierhals, Orly Elpeleg, Yoshiko Murakami, Laurence Faivre, Jean Baptiste Rivière, Jill Clayton-Smith, Laurent Pasquier, Yuichi Abe, Edgard Verdura, Aviva Fattal, Judith St-Onge, Daphné Lehalle, Joerg Betschinger, Krista Sondergaard-Schatz, Laurie Simone, Christa W. Habela, Ivon Cusco, Mieke M. van Haelst, Pierre Vabres, Laurence Duplomb, Magali Avila, Sakoto Miyakate, Koen L.I. van Gassen, Julien Thevenon, Eveline S. J. M. de Bont, Benjamin Cogné, Pia Zacher, Silvana van Koningsbruggen, Thibaud Jouan, Irene Valenzuela, Christel Thauvin-Robinet

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group

IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0225469b6c5302fe6a000a5d82d85eb
https://doi.org/10.1136/jmedgenet-2019-106508