J
Jelena Martinovic
Researcher at University of Paris-Sud
Publications - 136
Citations - 5681
Jelena Martinovic is an academic researcher from University of Paris-Sud. The author has contributed to research in topics: Prenatal diagnosis & Fetus. The author has an hindex of 40, co-authored 124 publications receiving 4889 citations. Previous affiliations of Jelena Martinovic include Paris Descartes University & University of Paris.
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Journal ArticleDOI
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté Encha-Razavi,Nathalie Boddaert,Marie Gonzales,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider-Maunoury,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
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Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
Lekbir Baala,Sophie Audollent,Jelena Martinovic,Catherine Ozilou,Marie-Claude Babron,Sivanthiny Sivanandamoorthy,Sophie Saunier,Rémi Salomon,Marie Gonzales,Eleanor Rattenberry,Chantal Esculpavit,Annick Toutain,Claude Moraine,Philippe Parent,Pascale Marcorelles,Marie-Christine Dauge,Joelle Roume,Martine Le Merrer,Vardiella Meiner,Karen Meir,Françoise Menez,Anne-Marie Beaufrère,Christine Francannet,Julia Tantau,Martine Sinico,Yves Dumez,Fiona Macdonald,Arnold Munnich,Stanislas Lyonnet,Marie-Claire Gubler,Emmanuelle Génin,Colin A. Johnson,Michel Vekemans,Férechté Encha-Razavi,Tania Attié-Bitach +34 more
TL;DR: In this article, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families to identify new Meckel syndrome (MKS) loci.
Journal ArticleDOI
Fgf9 and FGF20 maintain the stemness of nephron progenitors in mice and man
Hila Barak,Sung Ho Huh,Shuang Chen,Cécile Jeanpierre,Cécile Jeanpierre,Jelena Martinovic,Mélanie Parisot,Christine Bole-Feysot,Patrick Nitschké,Rémi Salomon,Corinne Antignac,David M. Ornitz,Raphael Kopan +12 more
TL;DR: Findings identify a long-sought-after critical component of the nephron stem cell niche and hold promise for long-term culture and utilization of these progenitors in vitro.
Journal ArticleDOI
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau,Marie Goulet,David Geneviève,Yves Sznajer,Jelena Martinovic,Sarah F. Smithson,Céline Huber,Geneviève Baujat,Elisabeth Flori,Laura Tecco,Denise P. Cavalcanti,Anne-Lise Delezoide,Valérie Serre,Martine Le Merrer,Arnold Munnich,Valérie Cormier-Daire +15 more
TL;DR: It is concluded that ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group.
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Damien Sanlaville,Heather C. Etchevers,Marie Gonzales,Jelena Martinovic,Mathieu Clément-Ziza,Anne-Lise Delezoide,Marie-Cécile Aubry,Anna Pelet,Sophie Chemouny,Corinne Cruaud,Sophie Audollent,Chantal Esculpavit,Géraldine Goudefroye,Catherine Ozilou,Catherine Fredouille,N. Joye,Nicole Morichon-Delvallez,Yves Dumez,Jean Weissenbach,Arnold Munnich,Jeanne Amiel,Férechté Encha-Razavi,Stanislas Lyonnet,Michel Vekemans,Tania Attié-Bitach +24 more
TL;DR: In situ hybridisation analysis of theCHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD6 expression pattern and the developmental anomalies observed in CHARGE syndrome.