Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick
Published in Clinical genetics (01.10.2014)
Published in Clinical genetics (01.10.2014)
Get full text
Journal Article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
Get full text
Journal Article
Tibial developmental field defect in valproic acid embryopathy: Report on three cases
Alessandri, J.L., Isidor, B., David, A., Martin‐Coignard, D., Ghazouani, J., Ramful, D., Laville, J.M., Le Caignec, C.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
Get full text
Journal Article
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis
Démurger, F., Pasquier, L., Dubourg, C., Dupé, V., Gicquel, I., Evain, C., Ratié, L., Jaillard, S., Beri, M., Leheup, B., Lespinasse, J., Martin-Coignard, D., Mercier, S., Quelin, C., Loget, P., Marcorelles, P., Laquerrière, A., Bendavid, C., Odent, S., David, V.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
Get full text
Journal Article
Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization
Isidor, B., Baujat, G., Le Caignec, C., Pichon, O., Martin‐Coignard, D., Toutain, A., David, A.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
Get full text
Journal Article
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
Get full text
Journal Article
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
Laugel, V, Dalloz, C, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Valayannopoulos, V, Sarasin, A, Dollfus, H
Published in Journal of medical genetics (01.09.2008)
Published in Journal of medical genetics (01.09.2008)
Get full text
Journal Article
Donohue syndrome or leprechaunism
Planchenault, D, Martin-Coignard, D, Rugemintwaza, D, Bah, A-G, Cosson, L, Labarthe, F, Chantepie, A, Saliba, E
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2014)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2014)
Get full text
Journal Article
P58 Familial frameshift SRY mutation inherited from a mosaic father with hypospadias and cryptorchidy
Le Caignec, C, Isidor, B, Capito, C, Paris, F, Baron, S, Corradini, N, Cabaret, B, Leclair, M.D, Giraud, M, Martin-Coignard, D, Barrière, P, David, A, Sultan, C
Published in Reproductive biomedicine online (2010)
Published in Reproductive biomedicine online (2010)
Get full text
Journal Article
Caractéristiques phénotypiques de l’hypercalcémie hypocalciurie familiale de type 1 : à propos de 79 observations
Mouly, C, Lienhardt, A., Pr, Silve, C., Dr, Vargas-Poussou, R., Dr, Kuhn, J.M., Pr, Brue, T., Pr, Reznik, Y., Pr, Tabarin, A., Pr, Martin-Coignard, D., Dr, Haymann, J.P., Pr, Tack, I., Pr, Caron, P., Pr, Linglart, A., Pr, Vezzosi, D., Dr
Published in Annales d'endocrinologie (01.09.2015)
Published in Annales d'endocrinologie (01.09.2015)
Get full text
Journal Article
Le syndrome de Donohue ou lepréchaunisme : à propos d’un cas
Planchenault, D., Martin-Coignard, D., Rugemintwaza, D., Bah, A.-G., Cosson, L., Labarthe, F., Chantepie, A., Saliba, E.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2014)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2014)
Get full text
Journal Article
Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region
Burgevin, M., Lacroix, A., Brown, G., Mikaty, M., Toutain, A., Vincent, M., Martin-Coignard, D., Petit, F., Coutant, R., Thauvin-Robinet, C., Donadille, B., Netchine, I., Odent, S.
Published in European journal of human genetics : EJHG (2020)
Get full text
Published in European journal of human genetics : EJHG (2020)
Journal Article
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
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, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Pozo, J, Muñoz, E, Gennery, A.R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J.M, Lehmann, A.R, Sarasin, A, Dollfus, H
Published in Human mutation (01.02.2010)
Published in Human mutation (01.02.2010)
Get full text
Journal Article
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Gerber, S, Perrault, I, Hanein, S, Barbet, F, Ducroq, D, Ghazi, I, Martin-Coignard, D, Leowski, C, Homfray, T, Dufier, J L, Munnich, A, Kaplan, J, Rozet, J M
Published in European journal of human genetics : EJHG (01.08.2001)
Published in European journal of human genetics : EJHG (01.08.2001)
Get full text
Journal Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
HICHRI, Haifa, STOETZEL, Corinne, HOLDER, Mureille, KAPLAN, Josseline, BITOUN, Pierre, LACOMBE, Didier, VERLOES, Alain, BONNEAU, Dominique, PERRIN-SCHMITT, Fabienne, BRANDT, Christian, BESANCON, Anne-Francoise, MANDEL, Jean-Louis, LAURIER, Virginie, COSSEE, Mireille, DOLLFUS, Hélène, CARON, Solenne, SIGAUDY, Sabine, SARDA, Pierre, HAMEL, Christian, MARTIN-COIGNARD, Dominique, GILLES, Morin, LEHEUP, Bruno
Published in European journal of human genetics : EJHG (01.05.2005)
Published in European journal of human genetics : EJHG (01.05.2005)
Get full text
Journal Article
Syndrome H : premier cas français
Bursztejn, A.-C., Jonard, L., Cribier, B., Barbaud, A., Martin-Coignard, D., Schmutz, J.-L.
Published in Annales de dermatologie et de vénéréologie (01.12.2013)
Published in Annales de dermatologie et de vénéréologie (01.12.2013)
Get full text
Journal Article
Syndrome microdélétionnel 17q12 : nouveau syndrome chromosomique pour le néphrologue
Coindre, J.P., Duveau, A., Seret, G., Sidibe, S., Frachet, O., Martin-Coignard, D.
Published in Néphrologie & thérapeutique (01.09.2014)
Published in Néphrologie & thérapeutique (01.09.2014)
Get full text
Journal Article
A second family with XLRH displays the mutation S244L in the CLCN5 gene
OUDET, C, MARTIN-COIGNARD, D, PANNETIER, S, PRAUD, E, CHAMPION, G, HANAUER, A
Published in Human genetics (01.06.1997)
Published in Human genetics (01.06.1997)
Get full text
Journal Article
Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization
Isidor, B., Baujat, G., Le Caignec, C., Pichon, O., Martin-Coignard, D., Toutain, A., David, A.
Published in American Journal of Medical Genetics Part A (01.08.2009)
Published in American Journal of Medical Genetics Part A (01.08.2009)
Get full text
Report