Valerie Cormier Daire
AuthID: R-00G-CE1
1
TITLE: Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
AUTHORS: Marzin, Pauline; Rondeau, Sophie; Alessandri, Jean Luc; Dieterich, Klaus; le Goff, Carine; Mahaut, Clementine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van Gils, Julien; Francannet, Christine; Robert, Matthieu; Jais, Jean Philippe; Huber, Celine; Cormier Daire, Valerie;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Marzin, Pauline; Rondeau, Sophie; Alessandri, Jean Luc; Dieterich, Klaus; le Goff, Carine; Mahaut, Clementine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van Gils, Julien; Francannet, Christine; Robert, Matthieu; Jais, Jean Philippe; Huber, Celine; Cormier Daire, Valerie;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations Full Text
AUTHORS: Cormier Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
AUTHORS: Cormier Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
AUTHORS: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 1
AUTHORS: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 1
4
TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
5
TITLE: Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome Full Text
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
6
TITLE: Postnatal Growth Retardation, Facial Dysmorphism, Spondylocarpal Synostosis, Cardiac Defect, and Inner Ear Malformation (Cardiospondylocarpofacial Syndrome?)-A Distinct Syndrome? Full Text
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
7
TITLE: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype Full Text
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
8
TITLE: Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report Full Text
AUTHORS: Isabel Mendes Gaspar; Tiago Saldanha; Pedro Cabral; Manuel M Vilhena; Madalena Tuna; Cristina Costa; Nathalie Dagoneau; Valerie Cormier Daire; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 13
AUTHORS: Isabel Mendes Gaspar; Tiago Saldanha; Pedro Cabral; Manuel M Vilhena; Madalena Tuna; Cristina Costa; Nathalie Dagoneau; Valerie Cormier Daire; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 13
