J
Joelle Roume
Researcher at Versailles Saint-Quentin-en-Yvelines University
Publications - 52
Citations - 3539
Joelle Roume is an academic researcher from Versailles Saint-Quentin-en-Yvelines University. The author has contributed to research in topics: Holoprosencephaly & Exome sequencing. The author has an hindex of 29, co-authored 51 publications receiving 3081 citations.
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Journal ArticleDOI
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
Anne-Sixtine Jobert,P Zhang,Alain Couvineau,J. Bonaventure,Joelle Roume,M Le Merrer,Caroline Silve +6 more
TL;DR: Results strongly support the conclusion that the absence of functional PTH/ PTHrP receptors is responsible for the skeletal abnormalities seen in Blomstrand chondrodysplasia, abnormalities that are the mirror image of those observed in Jansen's chondrocytes.
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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.
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.
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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Olivier Gribouval,Marie Gonzales,Thomas J. Neuhaus,Jacqueline Aziza,Eric Bieth,Nicole Laurent,Jean Marie Bouton,François Feuillet,Saloua Makni,Hatem Ben Amar,Guido F. Laube,Anne-Lise Delezoide,Raymonde Bouvier,Frédérique Dijoud,Elisabeth Ollagnon-Roman,Joelle Roume,Madeleine Joubert,Corinne Antignac,Marie Claire Gubler +18 more
TL;DR: It is proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity, the first identification to the authors' knowledge of a renal mendelian disorder linked to genetic defects in the renin
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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Gaetan Lesca,Carla Olivieri,Nelly Burnichon,Fabio Pagella,Marie-France Carette,Brigitte Gilbert-Dussardier,Cyril Goizet,Joelle Roume,Muriel Rabilloud,Jean-Christophe Saurin,Vincent Cottin,Jérôme Honnorat,Florence Coulet,Sophie Giraud,Alain Calender,Cesare Danesino,Elisabetta Buscarini,Henri Plauchu +17 more
TL;DR: This study shows major differences between HHT1 and HHT2 phenotypes, which should be taken into account for future clinical studies.