Bilaketaren emaitzak - Marc Jeanpierre

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  1. 1
    A rapid method for the purification of DNA from blood

    A rapid method for the purification of DNA from blood nork Marc Jeanpierre

    Argitaratua 1987
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  2. 2
    Construction and characterization of genomic libraries from specific human chromosomes.

    Construction and characterization of genomic libraries from specific human chromosomes. nork Robb Krumlauf, Marc Jeanpierre, Bryan D. Young

    Argitaratua 1982
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  3. 3
    WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis

    WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis nork Youxin Yang, Marc Jeanpierre, Gregory R. Dressler, Mireille Lacoste, Patrick Niaudet, Marie‐Claire Gubler

    Argitaratua 1999
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  4. 4
    Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.

    Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. nork Isabelle Henry, S Grandjouan, P. Couillin, F. Barichard, Marc Jeanpierre, Thomas Gläser, Thierry Philip, Gilbert Lenoir, J. L. Chaussain, Claudine Junien

    Argitaratua 1989
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  5. 5
    Permanent muscle weakness in M<scp>C</scp>Ardle disease

    Permanent muscle weakness in M<scp>C</scp>Ardle disease nork Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

    Argitaratua 2009
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  6. 6
    Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations

    Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations nork Nicolas Sévenet, Arielle Lellouch‐Tubiana, Deborah E. Schofield, Khê Hoang‐Xuan, Manfred Gessler, Daniel Birnbaum, Marc Jeanpierre, Anne Jouvet, Olivier Delattre

    Argitaratua 1999
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  7. 7
    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract nork 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

    Argitaratua 2017
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  8. 8
    Role for the Wilms tumor gene in genital development?

    Role for the Wilms tumor gene in genital development? nork Veronica van Heyningen, Wendy A. Bickmore, Anne Seawright, Judy Fletcher, John Maule, G. Fekete, Manfred Gessler, G.A.P. Bruns, Marc Jeanpierre, Claudine Junien

    Argitaratua 1990
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  9. 9
    <i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans

    <i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans nork 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

    Argitaratua 2010
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  10. 10
    Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database

    Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Muta... nork 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

    Argitaratua 1998
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  11. 11
    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man nork 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

    Argitaratua 2012
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  12. 12
    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) nork 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

    Argitaratua 2011
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  13. 13
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes nork 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

    Argitaratua 2013
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  14. 14
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy nork 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

    Argitaratua 2009
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  15. 15
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects nork 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

    Argitaratua 2011
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  16. 16
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans nork 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

    Argitaratua 2014
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  17. 17
    Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

    Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). nork 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

    Argitaratua 1997
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  18. 18
    Mutation History of the Roma/Gypsies

    Mutation History of the Roma/Gypsies nork 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

    Argitaratua 2004
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  19. 19
    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis nork 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

    Argitaratua 2016
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  20. 20
    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish nork 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

    Argitaratua 2018
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