Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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Journal Article
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia
Published in Genome medicine (23.05.2023)
Published in Genome medicine (23.05.2023)
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Putative founder effect of Arg338 AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline
Published in Clinical genetics (01.03.2023)
Published in Clinical genetics (01.03.2023)
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Journal Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David
Published in European journal of human genetics : EJHG (01.04.2014)
Published in European journal of human genetics : EJHG (01.04.2014)
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Journal Article
Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier
Pellestor, Franck, Ph.D, Puechberty, Jacques, M.D, Weise, Anja, Ph.D, Lefort, Geneviève, M.D, Anahory, Tal, M.D, Liehr, Thomas, M.D, Sarda, Pierre, M.D
Published in Fertility and sterility (01.06.2011)
Published in Fertility and sterility (01.06.2011)
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Journal Article
Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)
Roubertie, Agathe, Semprino, Marcos, Chaze, Anne Marie, Rivier, François, Humbertclaude, Véronique, Cheminal, Renée, Lefort, Geneviève, Echenne, Bernard
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
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Journal Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
Pinson, Lucile, Mannini, Linda, Willems, Marjolaine, Cucco, Francesco, Sirvent, Nicolas, Frebourg, Thierry, Quarantotti, Valentina, Collet, Corinne, Schneider, Anouck, Sarda, Pierre, Geneviève, David, Puechberty, Jacques, Lefort, Geneviève, Musio, Antonio
Published in American journal of medical genetics. Part A (01.01.2014)
Published in American journal of medical genetics. Part A (01.01.2014)
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Journal Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
AMOUROUX, Cyril, VINCENT, Marie, SARDA, Pierre, LEFORT, Geneviève, GENEVIEVE, David, BLANCHET, Patricia, PUECHBERTY, Jacques, SCHNEIDER, Anouck, CHAZE, Anne Marie, GIRARD, Manon, TOURNAIRE, Magali, JORGENSEN, Christian, MORIN, Denis
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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Journal Article
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Geneviève, Pinson, Lucile, Gaillard, Jean‐Baptiste, Ragon, Clémence, Perez, Marie‐Josée, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Geneviève, David, Pellestor, Franck, Puechberty, Jacques
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Journal Article
Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation
LEFORT, GENEVIÈVE, BLANCHET, PATRICIA, CHAZE, ANNE MARIE, GIRARDET, ANNE, SARDA, PIERRE, DEMAILLE, JACQUES, PELLESTOR, FRANCK
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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Journal Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Journal Article
Prader-Willi syndrome: is there a recognizable fetal phenotype?
Bigi, Nicole, Faure, Jean-Michel, Coubes, Christine, Puechberty, Jacques, Lefort, Geneviève, Sarda, Pierre, Blanchet, Patricia
Published in Prenatal diagnosis (01.09.2008)
Published in Prenatal diagnosis (01.09.2008)
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Journal Article
Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements
Pellestor, Franck, Gatinois, Vincent, Puechberty, Jacques, Geneviève, David, Lefort, Geneviève
Published in M.S. Médecine sciences (01.03.2014)
Published in M.S. Médecine sciences (01.03.2014)
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Journal Article
Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability
Gatinois, Vincent, Puechberty, Jacques, Lefort, Geneviève, Geneviève, David, Pellestor, Franck
Published in M.S. Médecine sciences (01.01.2014)
Published in M.S. Médecine sciences (01.01.2014)
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Journal Article
Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques
Pellestor, Franck, Imbert, Isabelle, Andréo, Brigitte, Lefort, Geneviève
Published in Human reproduction (Oxford) (01.06.2001)
Published in Human reproduction (Oxford) (01.06.2001)
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Journal Article
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity
Tran Mau-Them, Frédéric, Boualam, Aurélia, Barat-Houari, Mouna, Jeandel, Claire, Cottalorda, Jérôme, Cormier-Daire, Valérie, Fabre, Aurélie, Dumont, Bruno, Lefort, Geneviève, Baujat, Geneviève, Le Merrer, Martine, Jorgensen, Christian, Touitou, Isabelle, Geneviève, David
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
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Journal Article
Partial Epilepsy and 47,XXX Karyotype: Report of Four Cases
Roubertie, Agathe, Humbertclaude, Véronique, Leydet, Julie, Lefort, Geneviève, Echenne, Bernard
Published in Pediatric neurology (01.07.2006)
Published in Pediatric neurology (01.07.2006)
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Journal Article
Epiphyseal punctate calcifications (stippling) in complete trisomy 9
Perez, Marie-José, Schneider, Anouck, Chaze, Anne-Marie, Bigi, Nicole, Lefort, Geneviève, Rouleau, Caroline, Faure, Jean-Michel, Rahil, Haissam, Wadih, Nami, Couture, Alain, Boulot, Pierre, Blanchet, Patricia, Sarda, Pierre, Geneviève, David
Published in Prenatal diagnosis (01.11.2009)
Published in Prenatal diagnosis (01.11.2009)
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