Результати пошуку - Marc Jeanpierre
- Показ 1 - 20 результатів із 30
- На наступну сторінку
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1
A rapid method for the purification of DNA from blood за авторством Marc Jeanpierre
Опубліковано 1987Artigo -
2
Construction and characterization of genomic libraries from specific human chromosomes. за авторством Robb Krumlauf, Marc Jeanpierre, Bryan D. Young
Опубліковано 1982Artigo -
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4
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. за авторством Isabelle Henry, S Grandjouan, P. Couillin, F. Barichard, Marc Jeanpierre, Thomas Gläser, Thierry Philip, Gilbert Lenoir, J. L. Chaussain, Claudine Junien
Опубліковано 1989Artigo -
5
Permanent muscle weakness in M<scp>C</scp>Ardle disease за авторством Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic
Опубліковано 2009Artigo -
6
Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations за авторством Nicolas Sévenet, Arielle Lellouch‐Tubiana, Deborah E. Schofield, Khê Hoang‐Xuan, Manfred Gessler, Daniel Birnbaum, Marc Jeanpierre, Anne Jouvet, Olivier Delattre
Опубліковано 1999Artigo -
7
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract за авторством 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
Опубліковано 2017Artigo -
8
Role for the Wilms tumor gene in genital development? за авторством Veronica van Heyningen, Wendy A. Bickmore, Anne Seawright, Judy Fletcher, John Maule, G. Fekete, Manfred Gessler, G.A.P. Bruns, Marc Jeanpierre, Claudine Junien
Опубліковано 1990Artigo -
9
<i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans за авторством 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
Опубліковано 2010Artigo -
10
Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Muta... за авторством 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
Опубліковано 1998Artigo -
11
FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man за авторством 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
Опубліковано 2012Artigo -
12
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) за авторством 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
Опубліковано 2011Revisão -
13
Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes за авторством 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
Опубліковано 2013Artigo -
14
TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy за авторством 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
Опубліковано 2009Artigo -
15
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects за авторством 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
Опубліковано 2011Artigo -
16
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans за авторством 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
Опубліковано 2014Artigo -
17
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). за авторством 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
Опубліковано 1997Artigo -
18
Mutation History of the Roma/Gypsies за авторством 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
Опубліковано 2004Artigo -
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<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis за авторством 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
Опубліковано 2016Artigo -
20
Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish за авторством 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
Опубліковано 2018Artigo
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Пов'язані теми
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