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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Haro, Endika ; Petit, Florence ; Pira, Charmaine U. ; Spady, Conor D. ; Lucas-Toca, Sara ; Yorozuya, Lauren I. ; Gray, Austin L. ; Escande, Fabienne ; Jourdain, Anne-Sophie ; Nguyen, Andy ; Fellmann, Florence ; Good, Jean-Marc ; Francannet, Christine ; Manouvrier-Hanu, Sylvie ; Ros, Marian A. ; Oberg, Kerby C.

Nature communications, 2021-09, Vol.12 (1), p.5533-5533, Article 5533 [Periódico revisado por pares]

London: Nature Publishing Group

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2
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
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Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Rive Le Gouard, Nicolas ; Jacquinet, Adeline ; Ruaud, Lyse ; Deleersnyder, Hélène ; Ageorges, Faustine ; Gallard, Jennifer ; Lacombe, Didier ; Odent, Sylvie ; Mikaty, Myriam ; Manouvrier‐Hanu, Sylvie ; Ghoumid, Jamal ; Geneviève, David ; Lehman, Natacha ; Philip, Nicole ; Edery, Patrick ; Héron, Delphine ; Rastel, Coralie ; Chancenotte, Sophie ; Thauvin‐Robinet, Christel ; Faivre, Laurence ; Perrin, Laurence ; Verloes, Alain

Clinical genetics, 2021-04, Vol.99 (4), p.519-528 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Ventura, Andrea ; Amiel, Jeanne ; de Pontual, Loïc ; Yao, Evelyn ; Callier, Patrick ; Faivre, Laurence ; Drouin, Valérie ; Cariou, Sandra ; Van Haeringen, Arie ; Geneviève, David ; Goldenberg, Alice ; Oufadem, Myriam ; Manouvrier, Sylvie ; Munnich, Arnold ; Vidigal, Joana Alves ; Vekemans, Michel ; Lyonnet, Stanislas ; Henrion-Caude, Alexandra

Nature genetics, 2011-10, Vol.43 (10), p.1026-1030 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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4
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Jourdain, Anne‐Sophie ; Petit, Florence ; Odou, Marie‐Françoise ; Balduyck, Malika ; Brunelle, Perrine ; Dufour, William ; Boussion, Simon ; Brischoux‐Boucher, Elise ; Colson, Cindy ; Dieux, Anne ; Gérard, Marion ; Ghoumid, Jamal ; Giuliano, Fabienne ; Goldenberg, Alice ; Khau Van Kien, Philippe ; Lehalle, Daphné ; Morin, Gilles ; Moutton, Sébastien ; Smol, Thomas ; Vanlerberghe, Clémence ; Manouvrier‐Hanu, Sylvie ; Escande, Fabienne

Human mutation, 2020-01, Vol.41 (1), p.222-239 [Periódico revisado por pares]

United States: Hindawi Limited

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5
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
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TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Boussion, Simon ; Escande, Fabienne ; Jourdain, Anne‐Sophie ; Smol, Thomas ; Brunelle, Perrine ; Duhamel, Céline ; Alembik, Yves ; Attié‐Bitach, Tania ; Baujat, Geneviève ; Bazin, Anne ; Bonnière, Maryse ; Carassou, Philippe ; Carles, Dominique ; Devisme, Louise ; Goizet, Cyril ; Goldenberg, Alice ; Grotto, Sarah ; Guichet, Agnès ; Jouk, Pierre‐Simon ; Loeuillet, Laurence ; Mechler, Charlotte ; Michot, Caroline ; Pelluard, Fanny ; Putoux, Audrey ; Whalen, Sandra ; Ghoumid, Jamal ; Manouvrier‐Hanu, Sylvie ; Petit, Florence

Human mutation, 2020-07, Vol.41 (7), p.1220-1225 [Periódico revisado por pares]

United States: Hindawi Limited

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6
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
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Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Ghoumid, Jamal ; Petit, Florence ; Holder-Espinasse, Muriel ; Jourdain, Anne-Sophie ; Guerra, José ; Dieux-Coeslier, Anne ; Figeac, Martin ; Porchet, Nicole ; Manouvrier-Hanu, Sylvie ; Escande, Fabienne

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.44-50 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Loeys, Bart L ; Schwarze, Ulrike ; Holm, Tammy ; Callewaert, Bert L ; Thomas, George H ; Pannu, Hariyadarshi ; De Backer, Julie F ; Oswald, Gretchen L ; Symoens, Sofie ; Manouvrier, Sylvie ; Roberts, Amy E ; Faravelli, Francesca ; Greco, M. Alba ; Pyeritz, Reed E ; Milewicz, Dianna M ; Coucke, Paul J ; Cameron, Duke E ; Braverman, Alan C ; Byers, Peter H ; De Paepe, Anne M ; Dietz, Harry C

The New England journal of medicine, 2006-08, Vol.355 (8), p.788-798 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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8
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature
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WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Brunelle, Perrine ; Jourdain, Anne‐Sophie ; Escande, Fabienne ; Martinovic, Jelena ; Dupont, Juliette ; Busa, Tiffany ; Moncla, Anne ; Frénois, Frédéric ; Stichelbout, Morgane ; Manouvrier‐Hanu, Sylvie ; Petit, Florence

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1351-1356 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives
Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives
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Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives

Geerts‐Crabbé, Laura ; Antoine, Pascal ; Brugallé, Elodie ; Ghoumid, Jamal ; Bellengier, Laurence ; Edery, Patrick ; Heron, Delphine ; Manouvrier‐Hanu, Sylvie ; Fantini‐Hauwel, Carole

Journal of genetic counseling, 2019-10, Vol.28 (5), p.1011-1020 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Poirier, Karine ; Keays, David A ; Francis, Fiona ; Saillour, Yoann ; Bahi, Nadia ; Manouvrier, Sylvie ; Fallet-Bianco, Catherine ; Pasquier, Laurent ; Toutain, Annick ; Tuy, Françoise Phan Dinh ; Bienvenu, Thierry ; Joriot, Sylvie ; Odent, Sylvie ; Ville, Dorothée ; Desguerre, Isabelle ; Goldenberg, Alice ; Moutard, Marie-Laure ; Fryns, Jean-Pierre ; van Esch, Hilde ; Harvey, Robert J ; Siebold, Christian ; Flint, Jonathan ; Beldjord, Chérif ; Chelly, Jamel

Human mutation, 2007-11, Vol.28 (11), p.1055-1064 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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