Resultados da pesquisa - Jéléna Martinovic
- A mostrar 1 - 20 resultados de 37
- Go to Next Page
-
1
-
2
-
3
-
4
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome Por Elisabeth Lajeunie, S. Heuertz, Vincent El Ghouzzi, Jéléna Martinovic, Dominique Rénier, Martine Le Merrer, Jacky Bonaventure
Publicado em 2006Artigo -
5
Teratogen-Induced, Dietary and Genetic Models of Congenital Diaphragmatic Hernia Share a Common Mechanism of Pathogenesis Por Robin D. Clugston, Jürgen Klattig, Christoph Englert, Margaret Clagett‐Dame, Jéléna Martinovic, Alexandra Benachi, John J. Greer
Publicado em 2006Artigo -
6
-
7
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome Por Andrea Aguilar, Alice Meunier, Laetitia Strehl, Jéléna Martinovic, Maryse Bonnière, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Spassky
Publicado em 2012Artigo -
8
Evaluation of different formulas for LDL-C calculation Por Ana Vujović, Jelena Kotur‐Stevuljević, Slavica Spasić, Nada Bujišić, Jelena Martinović, Milica Vujović, Vesna Spasojević‐Kalimanovska, Aleksandra Zeljković, Dragoljub Pajic
Publicado em 2010Artigo -
9
Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings Por Claire Laporte, Jéléna Martinovic, Sophie Patrier, Briac Thierry, I. Mediouni, Julien Saada, M. Brasseur‐Daudruy, Martin Etienne, Grégoire Dumery, Alexandra Benachi
Publicado em 2025Artigo -
10
Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient Por D. Mahieu‐Caputo, A. Meulemans, Jéléna Martinovic, Marie‐Claire Gubler, Anne‐Lise Delezoide, Françoise Müller, Patrick Madélénat, Nicholas M. Fisk, Marc Dommergues
Publicado em 2005Artigo -
11
FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man Por 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
Publicado em 2012Artigo -
12
Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus Por Gabor Szinnai, Ludovic Lacroix, Aurore Carré, Fabien Guimiot, Monique Talbot, Jéléna Martinovic, Anne‐Lise Delezoide, Michel Vekemans, Stefan Michiels, Bernard Caillou, Martin Schlumberger, Jean‐Michel Bidart, Michel Polak
Publicado em 2006Artigo -
13
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation Por Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loïc Quevarec, Hélène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Marta Gut, Jéléna Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
Publicado em 2018Artigo -
14
Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 Por Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano‐Bessières, Maryse Bonnière, S. Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié‐Bitach, Heather Etchevers
Publicado em 2007Artigo -
15
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system Por Sophie Monnot, Nadine Gigarel, David C. Samuels, Philippe Burlet, Laëtitia Hesters, Nelly Frydman, René Frydman, Violaine Kerbrat, Benoît Funalot, Jéléna Martinovic, Alexandra Benachi, Josué Feingold, Arnold Münnich, Jean‐Paul Bonnefont, Julie Steffann
Publicado em 2010Artigo -
16
Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia Por Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas
Publicado em 2009Artigo -
17
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III Por Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire
Publicado em 2009Artigo -
18
Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes Por 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
Publicado em 2013Artigo -
19
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects Por 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
Publicado em 2011Artigo -
20
Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome Por Nathalie Dagoneau, Déborah Scheffer, Céline Huber, L.I. Al-Gazali, Maja Di Rocco, Anne Godard, Jéléna Martinovic, Annick Raas‐Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean‐Luc Taupin, Jean-François Moreau, Andrea Superti‐Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire
Publicado em 2004Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Phenotype
Fetus
Pregnancy
Endocrinology
Pathology
Anatomy
Polydactyly
Ciliopathy
Receptor
Surgery
Cell biology
Cilium
Diaphragmatic hernia
Hernia
Agenesis
Allele
Bioinformatics
Ciliopathies
Congenital diaphragmatic hernia
DNA sequencing
Dysplasia
Embryonic stem cell
Exome sequencing
Genetic heterogeneity