Works matching AU Merrer, Martine

Results: 65

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.

Published in:

2004

By:

Heron, Delphine;
Baumann, Clarisse;
Jacques, Jean;
Jean, Benichou;
Harpey, Paul;
Merrer, Martine Le;
Benichou, Jean Jacques;
Harpey, Jean Paul;
Le Merrer, Martine

Publication type:

journal article

New insights into genotype-phenotype correlation for GLI3 mutations.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62

By:

Démurger, Florence;
Ichkou, Amale;
Mougou-Zerelli, Soumaya;
Le Merrer, Martine;
Goudefroye, Géraldine;
Delezoide, Anne-Lise;
Quélin, Chloé;
Manouvrier, Sylvie;
Baujat, Geneviève;
Fradin, Mélanie;
Pasquier, Laurent;
Megarbané, André;
Faivre, Laurence;
Baumann, Clarisse;
Nampoothiri, Sheela;
Roume, Joëlle;
Isidor, Bertrand;
Lacombe, Didier;
Delrue, Marie-Ange;
Mercier, Sandra

Publication type:

Article

Clinical utility gene card for: Hypophosphatasia - update 2013.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.177

By:

Mornet, Etienne;
Hofmann, Christine;
Bloch-Zupan, Agnès;
Girschick, Hermann;
Le Merrer, Martine

Publication type:

Article

Clinical utility gene card for: hypophosphatasia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170

By:

Mornet, Etienne;
Beck, Christine;
Bloch-Zupan, Agnès;
Girschick, Hermann;
Le Merrer, Martine

Publication type:

Article

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200

By:

Huber, Céline;
Delezoide, Anee-Lise;
Guimiot, Fabien;
Baumann, Clarisse;
Malan, Valérie;
Le Merrer, Martine;
Da Silva, Daniela Bezerra;
Bonneau, Dominique;
Chatelain, Pierre;
Chu, Carol;
Clark, Robin;
Cox, Helen;
Edery, Patrick;
Edouard, Thomas;
Fano, Virginia;
Gibson, Kate;
Gillessen-Kaesbach, Gabriele;
Maria-Luisa Giovannucci-Uzielli;
Graul-Neumann, Luitgard Margarete;
van Hagen, Johana-Maria

Publication type:

Article

Czech dysplasia metatarsal type: another type II collagen disorder.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913

By:

Hoornaert, Kristien P.;
Marik, Ivo;
Kozlowski, Kazimierz;
Cole, Trevor;
Le Merrer, Martine;
Leroy, Jules G.;
Coucke, Paul J.;
Sillence, David;
Mortier, Geert R.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744

By:

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

Publication type:

Article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1240, doi. 10.1038/sj.ejhg.5201700

By:

Heuertz, Solange;
Le Merrer, Martine;
Zabel, Bernhard;
Wright, Michael;
Legeai-Mallet, Laurence;
Cormier-Daire, Valérie;
Gibbs, Linda;
Bonaventure, Jacky

Publication type:

Article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Published in:

2006

By:

Heuertz, Solange;
Le Merrer, Martine;
Zabel, Bernhard;
Wright, Michael;
Legeai-Mallet, Laurence;
Cormier-Daire, Valérie;
Gibbs, Linda;
Bonaventure, Jacky

Publication type:

Correction Notice

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613

By:

Redon, Richard;
Baujat, Geneviève;
Sanlaville, Damien;
Le Merrer, Martine;
Vekemans, Michel;
Munnich, Arnold;
Carter, Nigel P.;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 3, p. 289, doi. 10.1038/sj.ejhg.5201558

By:

Lajeunie, Elisabeth;
Heuertz, Solange;
El Ghouzzi, Vincent;
Martinovic, Jelena;
Renier, Dominique;
Le Merrer, Martine;
Bonaventure, Jacky

Publication type:

Article

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339

By:

Geneviève, David;
Héron, Delphine;
El Ghouzzi, Vincent;
Prost-Squarcioni, Catherine;
Le Merrer, Martine;
Jacquette, Aurélia;
Sanlaville, Damien;
Pinton, Florence;
Villeneuve, Nathalie;
Kalifa, Gabriel;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383

By:

Sanlaville, Damien;
Genevieve, David;
Bernardin, Céline;
Amiel, Jeanne;
Baumann, Clarisse;
de Blois, Marie-Christine;
Cormier-Daire, Valérie;
Gerard, Bénédicte;
Gerard, Marion;
Le Merrer, Martine;
Parent, Philippe;
Prieur, Fabienne;
Prieur, Marguerite;
Raoul, Odile;
Toutain, Annick;
Verloes, Alain;
Viot, Géraldine;
Romana, Serge;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591

By:

Colleaux, Laurence;
Rio, Marlène;
Heuertz, Solange;
Moindrault, Séverine;
Turleau, Catherine;
Ozilou, Catherine;
Gosset, Philippe;
Raoult, Odile;
Lyonnet, Stanislas;
Cormier-Daire, Valérie;
Amiel, Jeanne;
Le Merrer, Martine;
Picq, Monique;
de Blois, Marie-Christine;
Prieur, Marguerite;
Romana, Serge;
Cornelis, François;
Vekemans, Michel;
Munnich, Arnold

Publication type:

Article

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240

By:

El Ghouzzi, Vincent;
Lajeunie, Elisabeth;
Le Merrer, Martine;
Cormier-Daire, Valérie;
Renier, Dominique;
Munnich, Arnold;
Bonaventure, Jacky

Publication type:

Article

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778

By:

Isidor, ,13Bertrand;
Lindenbaum, Pierre;
Pichon, Olivier;
Bézieau, Stéphane;
Dina, Christian;
Jacquemont, Sébastien;
Martin-Coignard, Dominique;
Thauvin-Robinet, Christel;
Le Merrer, Martine;
Mandel, Jean-Louis;
David, Albert;
Faivre, Laurence;
Cormier-Daire, Valérie;
Redon, Richard;
Le Caignec, Cédric

Publication type:

Article

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Published in:

Nature Genetics, 2011, v. 43, n. 2, p. 127, doi. 10.1038/ng.748

By:

Briggs, Tracy A.;
Rice, Gillian I.;
Daly, Sarah;
Urquhart, Jill;
Gornall, Hannah;
Bader-Meunier, Brigitte;
Baskar, Kannan;
Baskar, Shankar;
Baudouin, Veronique;
Beresford, Michael W.;
Black, Graeme C. M.;
Dearman, Rebecca J.;
de Zegher, Francis;
Foster, Emily S.;
Francès, Camille;
Hayman, Alison R.;
Hilton, Emma;
Job-Deslandre, Chantal;
Kulkarni, Muralidhar L.;
Le Merrer, Martine

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199

By:

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;
Gaoxiang Ge;
Greenspan, Daniel S.;
Bonnet, Damien;
Le Merrer, Martine;
Munnich, Arnold;
Apte, Suneel S.;
Cormier-Daire, Valérie

Publication type:

Article

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Published in:

Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66

By:

Geneviève, David;
Proulle, Valérie;
Isidor, Bertrand;
Bellais, Samuel;
Serre, Valérie;
Djouadi, Fatima;
Picard, Capucine;
Vignon-Savoye, Capucine;
Bader-Meunier, Brigitte;
Blanche, Stéphane;
de Vernejoul, Marie-Christine;
Legeai-Mallet, Laurence;
Fischer, Anne-Marie;
Le Merrer, Martine;
Dreyfus, Marie;
Gaussem, Pascale;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Published in:

2005

By:

Gicquel, Christine;
Rossignol, Sylvie;
Cabrol, Sylvie;
Houang, Muriel;
Steunou, Virginie;
Barbu, Véronique;
Danton, Fabienne;
Thibaud, Nathalie;
Merrer, Martine Le;
Burglen, Lydie;
Bertrand, Anne-Marie;
Netchine, Irène;
Bouc, Yves Le

Publication type:

Letter

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 94, doi. 10.1038/12699

By:

Hurvitz, Jennifer R.;
Suwairi, Wafaa M.;
Van Hul, Wim;
El-Shanti, Hatem;
Superti-Furga, Andrea;
Roudier, Jean;
Holderbaum, Daniel;
Pauli, Richard M.;
Herd, J. Kenneth;
Hul, Els Van;
Rezai-Delui, Hossien;
Legius, Eric;
Le Merrer, Martine;
Al-Alami, Jamil;
Bahabri, Sultan A.;
Warman, Matthew L.

Publication type:

Article

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Published in:

Pediatric Radiology, 2015, v. 45, n. 7, p. 965, doi. 10.1007/s00247-014-3257-9

By:

Rossi, Massimiliano;
Hall, Christine;
Bouvier, Raymonde;
Collardeau-Frachon, Sophie;
Breton, Frédérique;
Bucourt, Martine;
Cordier, Marie;
Vianey-Saban, Christine;
Parenti, Giancarlo;
Andria, Generoso;
Merrer, Martine;
Edery, Patrick;
Offiah, Amaka

Publication type:

Article

Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort.

Published in:

Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 355, doi. 10.1159/000364807

By:

Pinto, Graziella;
Cormier-Daire, Valérie;
Le Merrer, Martine;
Samara-Boustani, Dinane;
Baujat, Geneviève;
Fresneau, Laurence;
Viaud, Magali;
Souberbielle, Jean Claude;
Pineau, Jean Claude;
Polak, Michel

Publication type:

Article

Mucopolysaccharidosis type I and craniosynostosis.

Published in:

Acta Neurochirurgica, 2013, v. 155, n. 10, p. 1973, doi. 10.1007/s00701-013-1831-9

By:

Ziyadeh, Jawad;
Merrer, Martine;
Robert, Matthieu;
Arnaud, Eric;
Valayannopoulos, Vassili;
Rocco, Federico

Publication type:

Article

Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia.

Published in:

1999

By:

Heinz-Erian, Peter;
Schmidt, Heinrich;
Le Merrer, Martine;
Phillips, Alan D.;
Kiess, Wieland;
Hadorn, Hans-Beat;
Heinz-Erian, P;
Schmidt, H;
Le Merrer, M;
Phillips, A D;
Kiess, W;
Hadorn, H B

Publication type:

journal article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265

By:

Navarro, Claire L.;
De Sandre-Giovannoli, Annachiara;
Bernard, Rafaëlle;
Boccaccio, Irène;
Boyer, Amandine;
Geneviève, David;
Hadj-Rabia, Smail;
Gaudy-Marqueste, Caroline;
Smitt, Henk Sillevis;
Vabres, Pierre;
Faivre, Laurence;
Verloes, Alain;
Van Essen, Ton;
Flori, Elisabeth;
Hennekam, Raoul;
Beemer, Frits A.;
Laurent, Nicole;
Le Merrer, Martine;
Cau, Pierre;
Lévy, Nicolas

Publication type:

Article

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 3, p. 357, doi. 10.1093/hmg/ddg029

By:

El Ghouzzi, Vincent;
Dagoneau, Nathalie;
Kinning, Esther;
Thauvin-Robinet, Christel;
Chemaitilly, Wassim;
Prost-Squarcioni, Catherine;
Al-Gazali, Lihadh I.;
Verloes, Alain;
Le Merrer, Martine;
Munnich, Arnold;
Trembath, Richard C.;
Cormier-Daire, Valérie

Publication type:

Article

Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2247, doi. 10.1093/hmg/6.13.2247

By:

Abdelhak, Sonia;
Kalatzis, Vasiliki;
Heilig, Roland;
Compain, Sylvie;
Samson, Delphine;
Vincent, Christophe;
Levi-Acobas, Fabienne;
Cruaud, Corinne;
Le Merrer, Martine;
Mathieu, Michèle;
König, Rainer;
Vigneron, Jacqueline;
Weissenbach, Jean;
Petit, Christine;
Weil, Dominique

Publication type:

Article

Genetic homogeneity of the Camurati–Engelmann disease.

Published in:

Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x

By:

Xavier, Ana Belinda Cf;
Saraiva, Jorge M;
Le Merrer, Martine;
Dagoneau, Nathalie;
Huber, Céline;
Penet, Clotilde;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia.

Published in:

Clinical Genetics, 1999, v. 56, n. 1, p. 71, doi. 10.1034/j.1399-0004.1999.560110.x

By:

Mégarbané, André;
Haddad, Fady A.;
Haddad-Zebouni, Soha;
Achram, Mitri;
Eich, Georg;
Le Merrer, Martine;
Superti-Furga, Andrea

Publication type:

Article

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.

Published in:

Clinical Genetics, 1997, v. 52, n. 1, p. 12, doi. 10.1111/j.1399-0004.1997.tb02508.x

By:

Legeai-Mallet, Laurence;
Munnich, Arnold;
Maroteaux, Pierre;
Merrer, Martine Le

Publication type:

Article

Acrodysgenital dwarfism or Smith-Lemli-Opitz type II syndrome.

Published in:

Clinical Genetics, 1991, v. 40, n. 3, p. 252, doi. 10.1111/j.1399-0004.1991.tb03089.x

By:

Merrer, Martine Le

Publication type:

Article

Metaphyseal acroscyphodysplasia.

Published in:

Clinical Genetics, 1991, v. 39, n. 5, p. 362, doi. 10.1111/j.1399-0004.1991.tb03043.x

By:

Verloes, Alain;
Merrer, Martine Le;
Farriaux, Jean-Pierre;
Maroteaux, Pierre

Publication type:

Article

IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4335, doi. 10.1210/jcem.84.12.6186

By:

VILAIN, ERIC;
MERRER, MARTINE LE;
LECOINTRE, CLAUDINE;
DESANGLES, FRANCOIS;
KAY, MARK A.;
MAROTEAUX, PIERRE;
MCCABE, EDWARD R. B.

Publication type:

Article

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy.

Published in:

2000

By:

Castelnau, Pierre;
Le Merrer, Martine;
Diatloff-Zito, Catherine;
Marquis, Eve;
Tête, Marie-Joseph;
Robert, Jean-Jacques;
Castelnau, P;
Le Merrer, M;
Diatloff-Zito, C;
Marquis, E;
Tête, M J;
Robert, J J

Publication type:

Case Study

Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta.

Published in:

European Journal of Oral Sciences, 2008, v. 116, n. 3, p. 195, doi. 10.1111/j.1600-0722.2008.00529.x

By:

Kamoun‐Goldrat, Agnès;
Ginisty, Danielle;
Merrer, Martine Le

Publication type:

Article

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 1, doi. 10.1186/1750-1172-5-3

By:

Héritier, Sébastien;
Le Merrer, Martine;
Jaubert, Francis;
Bigorre, Michèle;
Gillibert-Yvert, Marion;
de Courtivron, Benoit;
Ziade, Makram;
Bertrand, Yves;
Carrie, Christian;
Chastagner, Pascal;
Bost-Bru, Cécile;
Léonard, Jean-Claude;
Ouache, Marie;
Boccon-Gibod, Liliane;
Pierre Mary;
de Blic, Jacques;
Pin, Isabelle;
Wendling, Daniel;
Revillon, Yann;
Houdoin, Véronique

Publication type:

Article

Ellis-Van Creveld syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 27, doi. 10.1186/1750-1172-2-27

By:

Baujat, Geneviève;
Le Merrer, Martine

Publication type:

Article

Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease).

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 9, p. 892, doi. 10.1002/pd.2302

By:

Darmency, Véronique;
Thauvin-Robinet, Christel;
Rousseau, Thierry;
Mejean, Nathalie;
Charra, Ségolène;
Coron, Fanny;
Cassini, Cécile;
Huet, Frédéric;
Le Merrer, Martine;
Cormier-Daire, Valérie;
Laurent, Nicole;
Sagot, Paul;
Faivre, Laurence

Publication type:

Article

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 11, p. 993, doi. 10.1002/pd.2088

By:

Simon-Bouy, Brigitte;
Taillandier, Agnès;
Fauvert, Delphine;
Brun-Heath, Isabelle;
Serre, Jean-Louis;
Armengod, Carmen G.;
Bialer, Martin G.;
Mathieu, Michèle;
Cousin, Jacques;
Chitayat, David;
Liebelt, Jan;
Feldman, Barbara;
Gérard-Blanluet, Marion;
Körtge-Jung, Stefani;
King, Cath;
Laivuori, Hannele;
Le Merrer, Martine;
Mehta, Sarju;
Jern, Christina;
Sharif, Saba

Publication type:

Article

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1151, doi. 10.1002/pd.1576

By:

Colombani, Marina;
Laurent, Nicole;
Le Merrer, Martine;
Delezoide, Anne-Lise;
Thauvin-Robinet, Christel;
Huet, Frédéric;
Sagot, Paul;
Couvreur, Stéphanie;
Rousseau, Thierry;
Robertson, Stephen P.;
Faivre, Laurence

Publication type:

Article

Prenatal diagnostic indicators of paternal uniparental disomy 14.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 8, p. 662, doi. 10.1002/pd.1453

By:

Curtis, Logos;
Antonelli, Eric;
Vial, Yvan;
Rimensberger, Peter;
Le Merrer, Martine;
Hinard, Christine;
Bottani, Armand;
Fokstuen, Siv

Publication type:

Article

Fetal fibrochondrogenesis at 26 weeks' gestation.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 9, p. 806, doi. 10.1002/pd.423

By:

Randrianaivo, Hanitra;
Haddad, Georges;
Roman, Horatiu;
Lise, Anne;
Toutain, Annick;
Le Merrer, Martine;
Moraine, Claude

Publication type:

Article

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1183, doi. 10.1002/humu.20611

By:

Moncla, Anne;
Missirian, Chantal;
Cacciagli, Pierre;
Balzamo, Eve;
Legeai-Mallet, Laurence;
Jouve, Jean-Luc;
Chabrol, Brigitte;
Le Merrer, Martine;
Plessis, Ghislaine;
Villard, Laurent;
Philip, Nicole

Publication type:

Article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348

By:

Farrington-Rock, Claire;
Firestein, Marc H.;
Bicknell, Louise S.;
Superti-Furga, Andrea;
Bacino, Carlos A.;
Cormier-Daire, Valerie;
Le Merrer, Martine;
Baumann, Clarisse;
Roume, Joelle;
Rump, Patrick;
Verheij, Joke B.G.M.;
Sweeney, Elizabeth;
Rimoin, David L.;
Lachman, Ralph S.;
Robertson, Stephen P.;
Cohn, Daniel H.;
Krakow, Deborah

Publication type:

Article

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9254

By:

Fiedler, Jörg;
Merrer, Martine Le;
Mortier, Geert;
Heuertz, Solange;
Faivre, Laurence;
Brenner, Rolf E.

Publication type:

Article

Animal models of osteogenesis imperfecta and related syndromes.

Published in:

Journal of Bone & Mineral Metabolism, 2007, v. 25, n. 4, p. 211, doi. 10.1007/s00774-007-0750-3

By:

Agnès S. Kamoun-Goldrat;
Martine F. Le Merrer

Publication type:

Article

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Published in:

2016

By:

Briggs, Tracy;
Rice, Gillian;
Adib, Navid;
Ades, Lesley;
Barete, Stephane;
Baskar, Kannan;
Baudouin, Veronique;
Cebeci, Ayse;
Clapuyt, Philippe;
Coman, David;
Somer, Lien;
Finezilber, Yael;
Frydman, Moshe;
Guven, Ayla;
Heritier, Sébastien;
Karall, Daniela;
Kulkarni, Muralidhar;
Lebon, Pierre;
Levitt, David;
Merrer, Martine

Publication type:

Erratum

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 3, p. 220, doi. 10.1007/s10875-016-0252-y

By:

Briggs, Tracy;
Rice, Gillian;
Adib, Navid;
Ades, Lesley;
Barete, Stephane;
Baskar, Kannan;
Baudouin, Veronique;
Cebeci, Ayse;
Clapuyt, Philippe;
Coman, David;
Somer, Lien;
Finezilber, Yael;
Frydman, Moshe;
Guven, Ayla;
Heritier, Sébastien;
Karall, Daniela;
Kulkarni, Muralidhar;
Lebon, Pierre;
Levitt, David;
Merrer, Martine

Publication type:

Article

C5orf42 is the major gene responsible for OFD syndrome type VI.

Published in:

Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1

By:

Lopez, Estelle;
Thauvin-Robinet, Christel;
Reversade, Bruno;
Khartoufi, Nadia;
Devisme, Louise;
Holder, Muriel;
Ansart-Franquet, Hélène;
Avila, Magali;
Lacombe, Didier;
Kleinfinger, Pascale;
Kaori, Irahara;
Takanashi, Jun-Ichi;
Merrer, Martine;
Martinovic, Jelena;
Noël, Catherine;
Shboul, Mohammad;
Ho, Lena;
Güven, Yeliz;
Razavi, Ferechté;
Burglen, Lydie

Publication type:

Article