Search Results - "Doco‐Fenzy, Martine"

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review by Guterman, Sarah, Beneteau, Claire, Redon, Sylvia, Dupont, Céline, Missirian, Chantal, Jaeger, Pauline, Herve, Berenice, Jacquin, Clémence, Douet‐Guilbert, Nathalie, Till, Marianne, Tabet, Anne‐Claude, Moradkhani, Kamran, Malan, Valérie, Doco‐Fenzy, Martine, Vialard, François

“…Objective/Method 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features,…”
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder by Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep

“…Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech…”
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients by Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine

“…Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the…”
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3q29 duplications: A cohort of 46 patients and a literature review by Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

“…Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been…”
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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins by Salian, Smrithi, Scala, Marcello, Nguyen, Thi Tuyet Mai, Severino, Mariasavina, Accogli, Andrea, Amadori, Elisabetta, Torella, Annalaura, Pinelli, Michele, Hudson, Beth, Boothe, Megan, Hurst, Anna, Ben‐Omran, Tawfeg, Larsen, Martin J., Fagerberg, Christina R., Sperling, Lene, Miceikaite, Ieva, Herissant, Lucas, Doco‐Fenzy, Martine, Jennesson, Mélanie, Nigro, Vincenzo, Striano, Pasquale, Minetti, Carlo, Sachdev, Rani K., Palmer, Emma Elizabeth, Capra, Valeria, Campeau, Philippe M.

“…Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic…”
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum by Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot‐Bastaraud, Sandra, Portnoï, Marie‐France, Nouguès, Marie‐Christine, Moutard, Marie‐Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent‐Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques, Pebrel‐Richard, Céline, Colson, Cindy, Gerard, Marion, Missirian, Chantal, Sigaudy, Sabine, Busa, Tiffany, Doco‐Fenzy, Martine, Malan, Valérie, Rio, Marlène, Doray, Bérénice, Sanlaville, Damien, Siffroi, Jean‐Pierre, Héron, Delphine, Heide, Solveig

“…Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial…”
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome by Jouret, Guillaume, Egloff, Matthieu, Landais, Emilie, Tassy, Olivier, Giuliano, Fabienne, Karmous‐Benailly, Houda, Coutton, Charles, Satre, Véronique, Devillard, Françoise, Dieterich, Klaus, Vieville, Gaëlle, Kuentz, Paul, Caignec, Cédric, Beneteau, Claire, Isidor, Bertrand, Nizon, Mathilde, Callier, Patrick, Marquet, Valentine, Bieth, Eric, Lévy, Jonathan, Tabet, Anne‐Claude, Lyonnet, Stanislas, Baujat, Geneviève, Rio, Marlène, Cartault, François, Scheidecker, Sophie, Gouronc, Aurélie, Schalk, Audrey, Jacquin, Clémence, Spodenkiewicz, Marta, Angélini, Chloé, Pennamen, Perrine, Rooryck, Caroline, Doco‐Fenzy, Martine, Poirsier, Céline

“…A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a…”
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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis by Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

“…We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative…”
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis? by Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, Bilan, Frédéric, Audrezet, Marie‐Pierre, Saugier‐Veber, Pascale, Fauret‐Amsellem, Anne‐Laure, Missirian, Chantal, Kuentz, Paul, Egea, Gregory, Guichet, Agnès, Creveaux, Isabelle, Janel, Caroline, Harzallah, Ines, Touraine, Renaud, Goumy, Carole, Joyé, Nicole, Puechberty, Jacques, Haquet, Emmanuelle, Chantot‐Bastaraud, Sandra, Schmitt, Sébastien, Gosset, Philippe, Duban‐Bedu, Bénédicte, Delobel, Bruno, Vago, Philippe, Vialard, François, Gomes, Denise Molina, Siffroi, Jean‐Pierre, Bonnefont, Jean‐Paul, Dupont, Jean‐Michel, Jonveaux, Philippe, Doco‐Fenzy, Martine, Sanlaville, Damien, Le Caignec, Cédric

“…Objective Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving…”
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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH by Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie‐Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco‐Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier‐Hanu, Sylvie, Holder‐Espinasse, Muriel

“…Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild to moderate…”
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Genetics of Usher Syndrome: New Insights From a Meta-analysis by Jouret, Guillaume, Poirsier, Céline, Spodenkiewicz, Marta, Jaquin, Clémence, Gouy, Evan, Arndt, Carl, Labrousse, Marc, Gaillard, Dominique, Doco-Fenzy, Martine, Lebre, Anne-Sophie

“…OBJECTIVE:To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date…”
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition by Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

“…AbstractBackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum…”
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Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature by Beaudoux, Olivia, Lebre, Anne‐Sophie, Doco Fenzy, Martine, Spodenkiewicz, Marta, Canivet, Eric, Colosio, Charlotte, Poirsier, Céline

“…Townes–Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad…”
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Autosomal recessive primary microcephaly due to ASPM mutations: An update by Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine

“…Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a…”
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Clinical Genetics of Prolidase Deficiency: An Updated Review by Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

“…Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn…”
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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH by Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine

“…Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known…”
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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes by 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

“…Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and…”
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing by Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

“…Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which…”
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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype by Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, de Villartay, Jean-Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre-François, Agadr, Aomar, Abilkassem, Rachid, Elalloussi, Mustapha, Verloes, Alain, Doco-Fenzy, Martine

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Subtelomeric imbalances in phenotypically normal individuals by Balikova, Irina, Menten, Björn, de Ravel, Thomy, Le Caignec, Cédric, Thienpont, Bernard, Urbina, Montse, Doco-Fenzy, Martine, de Rademaeker, Marjan, Mortier, Geert, Kooy, Frank, van Den Ende, Janneke, Devriendt, Koen, Fryns, Jean-Pierre, Speleman, Frank, Vermeesch, Joris Robert

“…Subtelomeric imbalances are identified in ~5% of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA). Because of this high…”
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