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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Published in:
2019
By:
- Kim, Artem;
- Savary, Clara;
- Dubourg, Christèle;
- Carré, Wilfrid;
- Mouden, Charlotte;
- Hamdi-Rozé, Houda;
- Guyodo, Hélène;
- Douce, Jerome Le;
- Consortium, FREX;
- FREX Consortium;
- GoNL Consortium;
- Pasquier, Laurent;
- Flori, Elisabeth;
- Gonzales, Marie;
- Bénéteau, Claire;
- Boute, Odile;
- Attié-Bitach, Tania;
- Roume, Joelle;
- Goujon, Louise;
- Akloul, Linda
Publication type:
journal article
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
Published in:
2020
By:
- Hamdi-Rozé, Houda;
- Ware, Michelle;
- Guyodo, Hélène;
- Rizzo, Aurélie;
- Ratié, Leslie;
- Rupin, Maïlys;
- Carré, Wilfrid;
- Kim, Artem;
- Odent, Sylvie;
- Dubourg, Christèle;
- David, Véronique;
- de Tayrac, Marie;
- Dupé, Valérie
Publication type:
journal article
Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus.
Published in:
Frontiers in Neuroanatomy, 2014, v. 8, p. 1, doi. 10.3389/fnana.2014.00140
By:
- Ware, Michelle;
- Hamdi-Rozé, Houda;
- Dupé, Valérie
Publication type:
Article
Mutational Landscape of DDR2 Gene in Lung Squamous Cell Carcinoma Using Next-generation Sequencing.
Published in:
2018
By:
- Ricordel, Charles;
- Lespagnol, Alexandra;
- Llamas-Gutierrez, Francisco;
- de Tayrac, Marie;
- Kerjouan, Mallorie;
- Fievet, Alice;
- Hamdi-Rozé, Houda;
- Aliouat, Amyrat;
- Desrues, Benoit;
- Mosser, Jean;
- Léna, Hervé
Publication type:
journal article
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
Published in:
PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117418
By:
- Mouden, Charlotte;
- de Tayrac, Marie;
- Dubourg, Christèle;
- Rose, Sophie;
- Carré, Wilfrid;
- Hamdi-Rozé, Houda;
- Babron, Marie-Claude;
- Akloul, Linda;
- Héron-Longe, Bénédicte;
- Odent, Sylvie;
- Dupé, Valérie;
- Giet, Régis;
- David, Véronique
Publication type:
Article
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Published in:
Human Genetics, 2019, v. 138, n. 4, p. 363, doi. 10.1007/s00439-019-01993-y
By:
- Beaumont, Marie;
- Akloul, Linda;
- Carré, Wilfrid;
- Quélin, Chloé;
- Journel, Hubert;
- Pasquier, Laurent;
- Fradin, Mélanie;
- Odent, Sylvie;
- Hamdi-Rozé, Houda;
- Watrin, Erwan;
- Dupé, Valérie;
- Dubourg, Christèle;
- David, Véronique
Publication type:
Article
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Published in:
American Journal of Hematology, 2016, v. 91, n. 12, p. 1202, doi. 10.1002/ajh.24535
By:
- Hamdi-Rozé, Houda;
- Beaumont-Epinette, Marie-Pascale;
- Ben Ali, Zeineb;
- Le Lan, Caroline;
- Loustaud-Ratti, Véronique;
- Causse, Xavier;
- Loreal, Olivier;
- Deugnier, Yves;
- Brissot, Pierre;
- Jouanolle, Anne-Marie;
- Bardou-Jacquet, Edouard
Publication type:
Article
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Published in:
2019
By:
- Moradkhani, Kamran;
- Cuisset, Laurence;
- Boisseau, Pierre;
- Pichon, Olivier;
- Lebrun, Marine;
- Hamdi‐Rozé, Houda;
- Maurin, Marie‐Laure;
- Gruchy, Nicolas;
- Manca‐Pellissier, Marie‐Christine;
- Malzac, Perrine;
- Bilan, Frédéric;
- Audrezet, Marie‐Pierre;
- Saugier‐Veber, Pascale;
- Fauret‐Amsellem, Anne‐Laure;
- Missirian, Chantal;
- Kuentz, Paul;
- Egea, Gregory;
- Guichet, Agnès;
- Creveaux, Isabelle;
- Janel, Caroline
Publication type:
journal article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1329, doi. 10.1002/humu.23038
By:
- Dubourg, Christèle;
- Carré, Wilfrid;
- Hamdi‐Rozé, Houda;
- Mouden, Charlotte;
- Roume, Joëlle;
- Abdelmajid, Benmansour;
- Amram, Daniel;
- Baumann, Clarisse;
- Chassaing, Nicolas;
- Coubes, Christine;
- Faivre‐Olivier, Laurence;
- Ginglinger, Emmanuelle;
- Gonzales, Marie;
- Levy‐Mozziconacci, Annie;
- Lynch, Sally‐Ann;
- Naudion, Sophie;
- Pasquier, Laurent;
- Poidvin, Amélie;
- Prieur, Fabienne;
- Sarda, Pierre
Publication type:
Article
Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.
Published in:
Neural Development, 2016, v. 11, p. 1, doi. 10.1186/s13064-016-0077-7
By:
- Ware, Michelle;
- Hamdi-Rozé, Houda;
- Le Friec, Julien;
- David, Véronique;
- Dupé, Valérie
Publication type:
Article

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