Ellis-Van Creveld syndrome

ανά Baujat, Geneviève, Le Merrer, Martine
Έκδοση 2007

Clinical utility gene card for: hypophosphatasia

ανά Mornet, Etienne, Beck, Christine, Bloch-Zupan, Agnès, Girschick, Hermann, Le Merrer, Martine
Έκδοση 2011

Clinical utility gene card for: Hypophosphatasia – update 2013

ανά Mornet, Etienne, Hofmann, Christine, Bloch-Zupan, Agnès, Girschick, Hermann, Le Merrer, Martine
Έκδοση 2014

Fibrodysplasia ossificans progressiva

ανά Kaplan, Frederick S., Le Merrer, Martine, Glaser, David L., Pignolo, Robert J., Goldsby, Robert, Kitterman, Joseph A., Groppe, Jay, Shore, Eileen M.
Έκδοση 2008

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

ανά Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence
Έκδοση 2004

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

ανά Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick
Έκδοση 2009

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

ανά Feldman, George, Li, Ming, Martin, Shelden, Urbanek, Margrit, Urtizberea, J. Andoni, Fardeau, Michel, LeMerrer, Martine, Connor, J. Michael, Triffitt, James, Smith, Roger, Muenke, Maximilian, Kaplan, Frederick S., Shore, Eileen M.
Έκδοση 2000

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

ανά Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Έκδοση 2009

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

ανά Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, Boute, Odile, Choiset, Agnès, Lacombe, Didier, Philip, Nicole, Le Merrer, Martine, Tanaka, Hajime, Till, Marianne, Touraine, Renaud, Toutain, Annick, Vekemans, Michel, Munnich, Arnold, Lyonnet, Stanislas
Έκδοση 2001

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

ανά Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Έκδοση 2011

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

ανά Michot, Caroline, Le Goff, Carine, Goldenberg, Alice, Abhyankar, Avinash, Klein, Céline, Kinning, Esther, Guerrot, Anne-Marie, Flahaut, Philippe, Duncombe, Alice, Baujat, Genevieve, Lyonnet, Stanislas, Thalassinos, Caroline, Nitschke, Patrick, Casanova, Jean-Laurent, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Έκδοση 2012

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

ανά Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D
Έκδοση 2006

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

ανά Le Goff, Carine, Morice-Picard, Fanny, Dagoneau, Nathalie, Wang, Lauren W, Perrot, Claire, Crow, Yanick J, Bauer, Florence, Flori, Elisabeth, Prost-Squarcioni, Catherine, Krakow, Deborah, Ge, Gaoxiang, Greenspan, Daniel S, Bonnet, Damien, Le Merrer, Martine, Munnich, Arnold, Apte, Suneel S, Cormier-Daire, Valérie
Έκδοση 2008

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

ανά Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Έκδοση 2013

Clinical Variability of Familial Tumoral Calcinosis Caused by Novel GALNT3 Mutations

ανά Ichikawa, Shoji, Baujat, Geneviève, Seyahi, Aksel, Garoufali, Anastasia G., Imel, Erik A., Padgett, Leah R., Austin, Anthony M., Sorenson, Andrea H., Pejin, Zagorka, Topouchian, Vicken, Quartier, Pierre, Cormier-Daire, Valerie, Dechaux, Michele, Malandrinou, Fotini Ch., Singhellakis, Panagiotis N., Le Merrer, Martine, Econs, Michael J.
Έκδοση 2010

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

ανά Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Έκδοση 2004

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate A...

ανά Jackson, Gail C, Mittaz-Crettol, Laureane, Taylor, Jacqueline A, Mortier, Geert R, Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Offiah, Amaka, Wright, Michael J, Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C, Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D
Έκδοση 2012

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

ανά Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Crétien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rössler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., Tamary, Hannah
Έκδοση 2002

Identification of CANT1 Mutations in Desbuquois Dysplasia

ανά Huber, Céline, Oulès, Bénédicte, Bertoli, Marta, Chami, Mounia, Fradin, Mélanie, Alanay, Yasemin, Al-Gazali, Lihadh I., Ausems, Margreet G.E.M., Bitoun, Pierre, Cavalcanti, Denise P., Krebs, Alexander, Le Merrer, Martine, Mortier, Geert, Shafeghati, Yousef, Superti-Furga, Andrea, Robertson, Stephen P., Le Goff, Carine, Muda, Andrea Onetti, Paterlini-Bréchot, Patrizia, Munnich, Arnold, Cormier-Daire, Valérie
Έκδοση 2009

Cantú Syndrome Is Caused by Mutations in ABCC9

ανά van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander
Έκδοση 2012