16p11.2 Locus modulates response to satiety before the onset of obesity
Maillard, A M, Hippolyte, L, Rodriguez-Herreros, B, Chawner, S J R A, Dremmel, D, Agüera, Z, Fagundo, A B, Pain, A, Martin-Brevet, S, Hilbert, A, Kurz, S, Etienne, R, Draganski, B, Jimenez-Murcia, S, Männik, K, Metspalu, A, Reigo, A, Isidor, B, Le Caignec, C, David, A, Mignot, C, Keren, B, van den Bree, M B M, Munsch, S, Fernandez-Aranda, F, Beckmann, J S, Reymond, A, Jacquemont, S
Published in International Journal of Obesity (01.05.2016)
Published in International Journal of Obesity (01.05.2016)
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Optimization and evaluation of single-cell whole-genome multiple displacement amplification
Spits, C., Le Caignec, C., De Rycke, M., Van Haute, L., Van Steirteghem, A., Liebaers, I., Sermon, K.
Published in Human mutation (01.05.2006)
Published in Human mutation (01.05.2006)
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Journal Article
Distinct phenotype of PHF6 deletions in females
Di Donato, N, Isidor, B, Lopez Cazaux, S, Le Caignec, C, Klink, B, Kraus, C, Schrock, E, Hackmann, K
Published in European journal of medical genetics (01.02.2014)
Published in European journal of medical genetics (01.02.2014)
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Journal Article
Complex chromosomal rearrangement and intracytoplasmic sperm injection: A Case Report
Joly-Helas, G., de La Rochebrochard, C., Mousset-Siméon, N., Moirot, H., Tiercin, C., Romana, S.P., Le Caignec, C., Clavier, B., Macé, B., Rives, N.
Published in Human reproduction (Oxford) (01.05.2007)
Published in Human reproduction (Oxford) (01.05.2007)
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Journal Article
Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1
Le Caignec, C., Lefevre, M., Schott, J.J., Chaventre, A., Gayet, M., Calais, C., Moisan, J.P.
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
Le Caignec, C, Boceno, M, Saugier-Veber, P, Jacquemont, S, Joubert, M, David, A, Frebourg, T, Rival, J M
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Journal Article
Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops
Beneteau, C., Thierry, G., Blesson, S., Le Vaillant, C., Picard, V., Béné, M.C., Eveillard, M., Le Caignec, C.
Published in Clinical genetics (01.03.2014)
Published in Clinical genetics (01.03.2014)
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Journal Article
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
Albuisson, J, Isidor, B, Giraud, M, Pichon, O, Marsaud, T, David, A, Le Caignec, C, Bezieau, S
Published in Clinical genetics (01.04.2011)
Published in Clinical genetics (01.04.2011)
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Journal Article
Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist
Carapito, R., Isidor, B., Guerouaz, N., Untrau, M., Radosavljevic, M., Launay, E., Cassagnau, E., Frenard, C., Aubert, H., Romefort, B., Le Caignec, C., Ott, L., Paul, N., Barbarot, S., Bahram, S.
Published in British journal of dermatology (1951) (01.01.2015)
Published in British journal of dermatology (1951) (01.01.2015)
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Journal Article
Delineation of 15q13.3 microdeletions
Masurel-Paulet, A, Andrieux, J, Callier, P, Cuisset, JM, Le Caignec, C, Holder, M, Thauvin-Robinet, C, Doray, B, Flori, E, Alex-Cordier, MP, Beri, M, Boute, O, Delobel, B, Dieux, A, Vallee, L, Jaillard, S, Odent, S, Isidor, B, Beneteau, C, Vigneron, J, Bilan, F, Gilbert-Dussardier, B, Dubourg, C, Labalme, A, Bidon, C, Gautier, A, Pernes, P, Pinoit, JM, Huet, F, Mugneret, F, Aral, B, Jonveaux, P, Sanlaville, D, Faivre, L
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
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Journal Article
The SOX10 transcription factor : evaluation as a candidate gene for central and peripheral hereditary myelin disorders
PINGAULT, V, BONDURAND, N, LE CAIGNEC, C, TARDIEU, S, LEMORT, N, DUBOURG, O, LE GUERN, E, GOOSSENS, M, BOESPFLUG-TANGUY, O
Published in Journal of neurology (01.06.2001)
Published in Journal of neurology (01.06.2001)
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Journal Article
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
Bonnet, C, Andrieux, J, Béri-Dexheimer, M, Leheup, B, Boute, O, Manouvrier, S, Delobel, B, Copin, H, Receveur, A, Mathieu, M, Thiriez, G, Le Caignec, C, David, A, de Blois, M C, Malan, V, Philippe, A, Cormier-Daire, V, Colleaux, L, Flori, E, Dollfus, H, Pelletier, V, Thauvin-Robinet, C, Masurel-Paulet, A, Faivre, L, Tardieu, M, Bahi-Buisson, N, Callier, P, Mugneret, F, Edery, P, Jonveaux, P, Sanlaville, D
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Journal Article
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
Petit, F., Jourdain, A.-S., Andrieux, J., Baujat, G., Baumann, C., Beneteau, C., David, A., Faivre, L., Gaillard, D., Gilbert-Dussardier, B., Jouk, P.-S., Le Caignec, C., Loget, P., Pasquier, L., Porchet, N., Holder-Espinasse, M., Manouvrier-Hanu, S., Escande, F.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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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)
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Journal Article
Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity
Isidor, B., Cormier‐Daire, V., Le Merrer, M., Lefrancois, T., Hamel, A., Le Caignec, C., David, A., Jacquemont, S.
Published in American journal of medical genetics. Part A (15.06.2008)
Published in American journal of medical genetics. Part A (15.06.2008)
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Journal Article
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene
Winer, N., Kyndt, F., Paumier, A., David, A., Isidor, B., Quentin, M., Jouitteau, B., Sanyas, P., Philippe, H. J., Hernandez, A., Krakow, D., Le Caignec, C.
Published in Prenatal diagnosis (01.02.2009)
Published in Prenatal diagnosis (01.02.2009)
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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)
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Un évènement génétique complexe très rare à propos du gène CDC73 / HRPT2 en illustration de la médecine personnalisée
Coppin, L, Grutzmacher, C, Crépin, M, Le Bras, M, Murat, A, Le Caignec, C, Thuillier, C, Cardot-Bauters, C, Pigny, P, Porchet, N, Odou, M.F
Published in Annales d'endocrinologie (01.09.2016)
Published in Annales d'endocrinologie (01.09.2016)
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Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p
Le Caignec, C., Winer, N., Boceno, M., Delnatte, C., Podevin, G., Liet, J. M., Quere, M. P., Joubert, M., Rival, J. M.
Published in Prenatal diagnosis (15.12.2003)
Published in Prenatal diagnosis (15.12.2003)
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