Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Escalier, Denise, Pernet-Gallay, Karine, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature
Dieterich, Klaus, Le Tanno, Pauline, Kimber, Eva, Jouk, Pierre‐Simon, Hall, Judith, Giampietro, Philip
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2019)
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Journal Article
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations
Le Tanno, Pauline, Latypova, Xenia, Rendu, John, Fauré, Julien, Bourg, Véronique, Gauthier, Marjolaine, Billy-Lopez, Gipsy, Jouk, Pierre-Simon, Dieterich, Klaus
Published in Journal of medical genetics (01.01.2023)
Published in Journal of medical genetics (01.01.2023)
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Journal Article
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
Edery, Patrick, Marcaillou, Charles, Sahbatou, Mourad, Labalme, Audrey, Chastang, Joelle, Touraine, Renaud, Tubacher, Emmanuel, Senni, Faiza, Bober, Michael B., Nampoothiri, Sheela, Jouk, Pierre-Simon, Steichen, Elisabeth, Berland, Siren, Toutain, Annick, Wise, Carol A., Sanlaville, Damien, Rousseau, Francis, Clerget-Darpoux, Françoise, Leutenegger, Anne-Louise
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Published in Science (American Association for the Advancement of Science) (08.04.2011)
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Journal Article
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
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium
Auriau, Johanne, Usson, Yves, Jouk, Pierre-Simon
Published in Journal of cardiovascular development and disease (01.01.2024)
Published in Journal of cardiovascular development and disease (01.01.2024)
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Journal Article
A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Journal Article
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis
Poreau, Brice, Ramond, Francis, Harbuz, Radu, Satre, Véronique, Barro, Claire, Vettier, Claire, Adouard, Véronique, Thevenon, Julien, Jouk, Pierre‐Simon, Coutton, Charles, Touraine, Renaud, Dieterich, Klaus
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Journal Article
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction
Petre, Graciane, Lorès, Patrick, Sartelet, Hervé, Truffot, Aurélie, Poreau, Brice, Brandeis, Sandrine, Martinez, Guillaume, Satre, Véronique, Harbuz, Radu, Ray, Pierre F., Amblard, Florence, Devillard, Françoise, Vieville, Gaëlle, Berger, Francois, Jouk, Pierre‐Simon, Vaiman, Daniel, Touré, Aminata, Coutton, Charles, Bidart, Marie
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Journal Article
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
Jouk, Pierre-Simon, Sèle, Bernard, Dieterich, Klaus, Rousseaux, Sophie, Martinez, Delphine, Faure, Anne Karen, Ben Amar, Baha, Perrin, Julia, Zahi, Mohamed, Ray, Pierre F, Ohlmann, Théophile, Soto Rifo, Ricardo, Hennebicq, Sylviane, Lunardi, Joel
Published in Nature genetics (01.05.2007)
Published in Nature genetics (01.05.2007)
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Journal Article
Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS
Michaud, Vincent, Lasseaux, Eulalie, Plaisant, Claudio, Verloes, Alain, Perdomo‐Trujillo, Yaumara, Hamel, Christian, Elcioglu, Nursel H., Leroy, Bart, Kaplan, Josseline, Jouk, Pierre‐Simon, Lacombe, Didier, Fergelot, Patricia, Morice‐Picard, Fanny, Arveiler, Benoit
Published in Pigment cell and melanoma research (01.11.2017)
Published in Pigment cell and melanoma research (01.11.2017)
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Journal Article
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population
Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Journal Article
Cerebral palsy and intrauterine growth in single births: European collaborative study
Jarvis, Stephen, Glinianaia, Svetlana V, Torrioli, Maria-Giulia, Platt, Mary-Jane, Miceli, Maria, Jouk, Pierre-Simon, Johnson, Ann, Hutton, Jane, Hemming, Karla, Hagberg, Gudrun, Dolk, Helen, Chalmers, James
Published in The Lancet (British edition) (04.10.2003)
Published in The Lancet (British edition) (04.10.2003)
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Journal Article
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao
Published in Molecular genetics & genomic medicine (01.04.2019)
Published in Molecular genetics & genomic medicine (01.04.2019)
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Journal Article
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population
Dieterich, Klaus, Zouari, Raoudha, Harbuz, Radu, Vialard, François, Martinez, Delphine, Bellayou, Hanane, Prisant, Nadia, Zoghmar, Abdelali, Guichaoua, Marie Roberte, Koscinski, Isabelle, Kharouf, Mahmoud, Noruzinia, Mehrdad, Nadifi, Sellama, Sefiani, Abdelaziz, Lornage, Jacqueline, Zahi, Mohamed, Viville, Stéphane, Sèle, Bernard, Jouk, Pierre-Simon, Jacob, Marie-Christine, Escalier, Denise, Nikas, Yorgos, Hennebicq, Sylviane, Lunardi, Joël, Ray, Pierre F.
Published in Human molecular genetics (01.04.2009)
Published in Human molecular genetics (01.04.2009)
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