Hakutulokset - Marc Jeanpierre
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A rapid method for the purification of DNA from blood Tekijä Marc Jeanpierre
Julkaistu 1987Artigo -
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Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. Tekijä Isabelle Henry, S Grandjouan, P. Couillin, F. Barichard, Marc Jeanpierre, Thomas Gläser, Thierry Philip, Gilbert Lenoir, J. L. Chaussain, Claudine Junien
Julkaistu 1989Artigo -
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Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations Tekijä Nicolas Sévenet, Arielle Lellouch‐Tubiana, Deborah E. Schofield, Khê Hoang‐Xuan, Manfred Gessler, Daniel Birnbaum, Marc Jeanpierre, Anne Jouvet, Olivier Delattre
Julkaistu 1999Artigo -
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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract Tekijä Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre
Julkaistu 2017Artigo -
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<i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans Tekijä Jacques Young, Jérôme Bouligand, Bruno Francou, Marie-Laure Raffin-Sanson, Stéphanie Gaillez, Marc Jeanpierre, Michaël Grynberg, Peter Kamenický, Philippe Chanson, Sylvie Brailly‐Tabard, Anne Guiochon‐Mantel
Julkaistu 2010Artigo -
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Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Muta... Tekijä Marc Jeanpierre, Érick Denamur, Isabelle Henry, M.-O. Cabanis, Sandrine Luce, A Cécille, Jacques Élion, M. Peuchmaur, Chantal Loirat, Patrick Niaudet, Marie‐Claire Gubler, Claudine Junien
Julkaistu 1998Artigo -
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FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man Tekijä Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jéléna Martinovic, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan
Julkaistu 2012Artigo -
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Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) Tekijä Kirsten Y. Renkema, Paul Winyard, Ilya Skovorodkin, Elena Levtchenko, An Hindryckx, Marc Jeanpierre, Stefanie Weber, Rémi Salomon, Corinne Antignac, Seppo Vainio, Andreas Schedl, Franz Schaefer, Nine V.A.M. Knoers, Ernie M.H.F. Bongers
Julkaistu 2011Revisão -
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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes Tekijä Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet
Julkaistu 2013Artigo -
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy Tekijä Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet
Julkaistu 2009Artigo -
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RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects Tekijä Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon
Julkaistu 2011Artigo -
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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans Tekijä Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre
Julkaistu 2014Artigo -
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Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Tekijä Alain Carrié, F. Piccolo, France Leturcq, Claudia de Toma, K. Azibi, C. Beldjord, Jean‐Michel Vallat, Luciano Merlini, Thomas Voit, Caroline A. Sewry, J.A. Urtizberea, Norma B. Romero, F.M.S. Tomé, Michel Fardeau, Yoshihide Sunada, Kevin P. Campbell, J.‐C. Kaplan, Marc Jeanpierre
Julkaistu 1997Artigo -
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Mutation History of the Roma/Gypsies Tekijä Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Ágnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, J. Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva
Julkaistu 2004Artigo -
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<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis Tekijä M Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzalès, Emilie Filhol, Sophie Collardeau‐Frachon, Marc Jeanpierre, C. Henry, Monique Fabrè, Loïc Viremouneix, Louise Galmiche, Dominique Debray, Christine Bôle‐Feysot, Patrick Nitschké, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurélia Bertholet, Emmanuel Jacquemin, Alexandra Henrion‐Caude, Sophie Saunier
Julkaistu 2016Artigo -
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Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish Tekijä Madeline Louise Reilly, Marijn Stokman, Virginie Magry, Marc Jeanpierre, Marine Alves, Mohammadjavad Paydar, Jacqueline R. Hellinga, Marion Delous, Daniel Pouly, Marion Failler, Jéléna Martinovic, Laurence Lœuillet, Brigitte Leroy, Julia Tantau, J. Roume, Cheryl Y. Gregory‐Evans, Xianghong Shan, Isabel Filges, John S. Allingham, Benjamin H. Kwok, Sophie Saunier, Rachel H. Giles, Alexandre Benmerah
Julkaistu 2018Artigo
Työkalut:
Liittyvät aiheet
Biology
Genetics
Gene
Mutation
Medicine
Phenotype
Internal medicine
Kidney
Endocrinology
Cancer research
Anatomy
Ciliogenesis
Ciliopathy
Cilium
Exome sequencing
Missense mutation
Allele
Ciliopathies
Genome
Locus (genetics)
Urinary system
Agenesis
Cell biology
Copy-number variation
Embryonic stem cell
Epigenetics
Molecular biology
Muscular dystrophy
Nephronophthisis
Renal agenesis