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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 748, doi. 10.1023/A:1005497116398
By:
- Harpey, J-P.;
- Heron, D.;
- Prudent, M.;
- Charpentier, C.;
- Rustin, P.;
- Ponsot, G.;
- Cormier-Daire, V.
Publication type:
Article
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
Published in:
1999
By:
- Parfait, B.;
- de Lonlay, P.;
- von Kleist-Retzow, J. C.;
- Cormier-Daire, V.;
- Chrétien, D.;
- Rötig, A.;
- Rabier, D.;
- Saudubray, J. M.;
- Rustin, P.;
- Munnich, A.;
- Chrétien, D;
- Rötig, A
Publication type:
journal article
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 91, doi. 10.1111/cge.12964
By:
- Barraza‐García, J.;
- Rivera‐Pedroza, C.I.;
- Hisado‐Oliva, A.;
- Belinchón‐Martínez, A.;
- Sentchordi‐Montané, L.;
- Duncan, E.L.;
- Clark, G.R.;
- del Pozo, A.;
- Ibáñez‐Garikano, K.;
- Offiah, A.;
- Prieto‐Matos, P.;
- Cormier‐Daire, V.;
- Heath, K.E.
Publication type:
Article
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
By:
- Thevenon, J.;
- Duplomb, L.;
- Phadke, S.;
- Eguether, T.;
- Saunier, A.;
- Avila, M.;
- Carmignac, V.;
- Bruel, A.‐L.;
- St‐Onge, J.;
- Duffourd, Y.;
- Pazour, G.J.;
- Franco, B.;
- Attie‐Bitach, T.;
- Masurel‐Paulet, A.;
- Rivière, J.‐B.;
- Cormier‐Daire, V.;
- Philippe, C.;
- Faivre, L.;
- Thauvin‐Robinet, C.
Publication type:
Article
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 630, doi. 10.1111/cge.12696
By:
- Lefebvre, M.;
- Sanlaville, D.;
- Marle, N.;
- Thauvin‐Robinet, C.;
- Gautier, E.;
- Chehadeh, S.E.;
- Mosca‐Boidron, A.‐L.;
- Thevenon, J.;
- Edery, P.;
- Alex‐Cordier, M.‐P.;
- Till, M.;
- Lyonnet, S.;
- Cormier‐Daire, V.;
- Amiel, J.;
- Philippe, A.;
- Romana, S.;
- Malan, V.;
- Afenjar, A.;
- Marlin, S.;
- Chantot‐Bastaraud, S.
Publication type:
Article
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
Published in:
Clinical Genetics, 2016, v. 89, n. 1, p. 68, doi. 10.1111/cge.12567
By:
- Leroy, C.;
- Jacquemont, M.‐L.;
- Doray, B.;
- Lamblin, D.;
- Cormier‐Daire, V.;
- Philippe, A.;
- Nusbaum, S.;
- Patrat, C.;
- Steffann, J.;
- Colleaux, L.;
- Vekemans, M.;
- Romana, S.;
- Turleau, C.;
- Malan, V.
Publication type:
Article
Myhre syndrome.
Published in:
Clinical Genetics, 2014, v. 85, n. 6, p. 503, doi. 10.1111/cge.12365
By:
- Le Goff, C.;
- Michot, C.;
- Cormier‐Daire, V.
Publication type:
Article
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
Published in:
Clinical Genetics, 2013, v. 83, n. 3, p. 251, doi. 10.1111/j.1399-0004.2012.01905.x
By:
- Holman, SK;
- Morgan, T;
- Baujat, G;
- Cormier‐Daire, V;
- Cho, T‐J;
- Lees, M;
- Samanich, J;
- Tapon, D;
- Hove, HD;
- Hing, A;
- Hennekam, R;
- Robertson, SP
Publication type:
Article
Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 266, doi. 10.1111/j.1399-0004.2009.01314.x
By:
- Jung, C.;
- Dagoneau, N.;
- Baujat, G.;
- Le Merrer, M.;
- David, A.;
- Di Rocco, M.;
- Hamel, B.;
- Mégarban, A.;
- Superti-Furga, A.;
- Unger, S.;
- Munnich, A.;
- Cormier-Daire, V.
Publication type:
Article
New insights in congenital bowing of the femora.
Published in:
Clinical Genetics, 2004, v. 66, n. 3, p. 169, doi. 10.1111/j.0009-9163.2004.00307.x
By:
- Cormier-Daire, V.;
- Geneviève, D.;
- Munnich, A.;
- Le Merrer, M.
Publication type:
Article
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
Published in:
Clinical Genetics, 2004, v. 66, n. 2, p. 122, doi. 10.1111/j.1399-0004.2004.00288.x
By:
- Borck, G.;
- Rio, M.;
- Sanlaville, D.;
- Redon, R.;
- Molinari, F.;
- Bacq, D.;
- Raoul, O.;
- Cormier-Daire, V.;
- Lyonnet, S.;
- Amiel, J.;
- Le Merrer, M.;
- de Blois, M.-C.;
- Prieur, M.;
- Vekemans, M.;
- Carter, N.P.;
- Munnich, A.;
- Colleaux, L.
Publication type:
Article
Increased paternal age in CHARGE association.
Published in:
Clinical Genetics, 1996, v. 50, n. 6, p. 548, doi. 10.1111/j.1399-0004.1996.tb02736.x
By:
- Tellier, A.L.;
- Lyonnet, S.;
- Cormier-Daire, V.;
- Lonlay, P.;
- Abadie, V.;
- Baumann, C.;
- Bonneau, D.;
- Labrune, Ph.;
- Lacombe, D.;
- Merrer, M. Le;
- Nivelon, A.;
- Philip, N.;
- Briard, M. L.;
- Munnich, A.
Publication type:
Article
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Published in:
Journal of Dental Research, 2023, v. 102, n. 6, p. 616, doi. 10.1177/00220345231154569
By:
- Yamaguti, P.M.;
- de La Dure-Molla, M.;
- Monnot, S.;
- Cardozo-Amaya, Y.J.;
- Baujat, G.;
- Michot, C.;
- Fournier, B.P.J.;
- Riou, M.C.;
- Caldas Rosa, E.C.C.;
- Soares de Lima, Y.;
- dos Santos, P.A.C.;
- Alcaraz, G.;
- Guerra, E.N.S.;
- Castro, L.C.;
- de Oliveira, S.F.;
- Pogue, R.;
- Berdal, A.;
- de Paula, L.M.;
- Mazzeu, J.F.;
- Cormier-Daire, V.
Publication type:
Article
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Published in:
2018
By:
- Fournier, B. P.;
- Bruneau, M. H.;
- Toupenay, S.;
- Kerner, S.;
- Berdal, A.;
- Cormier-Daire, V.;
- Hadj-Rabia, S.;
- Coudert, A. E.;
- de La Dure-Molla, M.
Publication type:
journal article
Genotypes and phenotypes of children with SHOX deficiency in France.
Published in:
2012
By:
- Rosilio M;
- Huber-Lequesne C;
- Sapin H;
- Carel JC;
- Blum WF;
- Cormier-Daire V
Publication type:
Journal Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Published in:
2000
By:
- Faivre, Laurence;
- Cormier-Daire, Valérie;
- Chrétien, Dominique;
- Christoph von Kleist-Retzow, Jürgen;
- Amiel, Jeanne;
- Dommergues, Marc;
- Saudubray, Jean-Marie;
- Dumez, Yves;
- Rötig, Agnès;
- Rustin, Pierre;
- Munnich, Arnold;
- Faivre, L;
- Cormier-Daire, V;
- Chrétien, D;
- Christoph von Kleist-Retzow, J;
- Amiel, J;
- Dommergues, M;
- Saudubray, J M;
- Dumez, Y;
- Rötig, A
Publication type:
journal article
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34.
Published in:
Human Genetics, 2007, v. 121, n. 2, p. 269, doi. 10.1007/s00439-006-0311-1
By:
- Isidor, B.;
- Dagoneau, N.;
- Huber, C.;
- Genevieve, D.;
- Bader-Meunier, B.;
- Blanche, S.;
- Picard, C.;
- Vernejoul, M.;
- Munnich, A.;
- Merrer, M.;
- Cormier-Daire, V.
Publication type:
Article
Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia.
Published in:
Ultrasound in Obstetrics & Gynecology, 2013, v. 42, n. 2, p. 161, doi. 10.1002/uog.12298
By:
- Macé, G.;
- Sonigo, P.;
- Cormier‐Daire, V.;
- Aubry, M.‐C.;
- Martinovic, J.;
- Elie, C.;
- Gonzales, M.;
- Carbonne, B.;
- Dumez, Y.;
- Le Merrer, M.;
- Brunelle, F.;
- Benachi, A.
Publication type:
Article
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.
Published in:
European Journal of Endocrinology, 2014, v. 170, n. 6, p. 847, doi. 10.1530/EJE-14-0071
By:
- Teissier, R.;
- Flechtner, I.;
- Colmenares, A.;
- Lambot-Juhan, K.;
- Baujat, G.;
- Pauwels, C.;
- Samara-Boustani, D.;
- Beltrand, J.;
- Simon, A.;
- Thalassinos, C.;
- Crosnier, H.;
- Latrech, H.;
- Pinto, G.;
- Le Merrer, M.;
- Cormier-Daire, V.;
- Souberbielle, J. C.;
- Polak, M.
Publication type:
Article
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
Published in:
European Journal of Endocrinology, 2014, v. 170, n. 5, p. 677, doi. 10.1530/EJE-13-0864
By:
- Flechtner, I.;
- Lambot-Juhan, K.;
- Teissier, R.;
- Colmenares, A.;
- Baujat, G.;
- Beltrand, J.;
- Ajaltouni, Z.;
- Pauwels, C.;
- Pinto, G.;
- Samara-Boustani, D.;
- Simon, A.;
- Thalassinos, C.;
- Le Merrer, M.;
- Cormier-Daire, V.;
- Polak, M.
Publication type:
Article
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Published in:
2022
By:
- Mouillé, M.;
- Rio, M.;
- Breton, S.;
- Piketty, M. L.;
- Afenjar, A.;
- Amiel, J.;
- Capri, Y.;
- Goldenberg, A.;
- Francannet, C.;
- Michot, C.;
- Mignot, C.;
- Perrin, L.;
- Quelin, C.;
- Van Gils, J.;
- Barcia, G.;
- Pingault, V.;
- Maruani, G.;
- Koumakis, E.;
- Cormier-Daire, V.
Publication type:
Journal Article
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Published in:
2018
By:
- Baer, S.;
- Afenjar, A.;
- Smol, T.;
- Piton, A.;
- Gérard, B.;
- Alembik, Y.;
- Bienvenu, T.;
- Boursier, G.;
- Boute, O.;
- Colson, C.;
- Cordier, M.‐p.;
- Cormier‐daire, V.;
- Delobel, B.;
- Doco‐fenzy, M.;
- Duban‐bedu, B.;
- Fradin, M.;
- Geneviève, D.;
- Goldenberg, A.;
- Grelet, M.;
- Haye, D.
Publication type:
Case Study
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)
Published in:
2009
By:
- Darmency V;
- Thauvin-Robinet C;
- Rousseau T;
- Mejean N;
- Charra S;
- Coron F;
- Cassini C;
- Huet F;
- Le Merrer M;
- Cormier-Daire V;
- Laurent N;
- Sagot P;
- Faivre L
Publication type:
Journal Article
Gorlin syndrome presenting as prenatal chylothorax in a girl.
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 11, p. 997, doi. 10.1002/pd.1231
By:
- Geneviève, D.;
- Walter, E.;
- Gorry, P.;
- Jacquemont, M. L.;
- Dupic, L.;
- Layet, V.;
- Munnich, A.;
- Cormier-Daire, V.;
- Dommergues, M.;
- Lyonnet, S.;
- Mitanchez, D.
Publication type:
Article
Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.
Published in:
2010
By:
- Laugel, V.;
- Dalloz, C.;
- Durand, M.;
- Sauvanaud, F.;
- Kristensen, U.;
- Vincent, M.C.;
- Pasquier, L.;
- Odent, S.;
- Cormier-Daire, V.;
- Gener, B.;
- Tobias, E.S.;
- Tolmie, J.L.;
- Martin-Coignard, D.;
- Drouin-Garraud, V.;
- Heron, D.;
- Journel, H.;
- Raffo, E.;
- Vigneron, J.;
- Lyonnet, S.;
- Murday, V.
Publication type:
Other
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type.
Published in:
Pediatric Radiology, 2000, v. 30, n. 7, p. 460, doi. 10.1007/s002470000181
By:
- Savarirayan, R.;
- Cormier-Daire, V.;
- Lachman, R. S.;
- Rimoin, D. L.
Publication type:
Article

Found: 26