CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
Keren, Boris, Suzuki, Oscar T., Gérard-Blanluet, Marion, Brémond-Gignac, Dominique, Elmaleh, Monique, Titomanlio, Luigi, Delezoide, Anne-Lise, Passos-Bueno, Maria Rita, Verloes, Alain
Published in American journal of medical genetics. Part A (01.07.2007)
Published in American journal of medical genetics. Part A (01.07.2007)
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Journal Article
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne
Published in Prenatal diagnosis (01.11.2008)
Published in Prenatal diagnosis (01.11.2008)
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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Journal Article
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
Bélien, Valérie, Gérard‐Blanluet, Marion, Serero, Stéphane, Le Dû, Nathalie, Baumann, Clarisse, Jacquemont, Marie‐Line, Dupont, Céline, Krabchi, Kada, Drunat, Séverine, Elbez, Annie, Janaud, Jean‐Claude, Benzacken, Brigitte, Verloes, Alain, Tabet, Anne‐Claude, Aboura, Azzedine
Published in American journal of medical genetics. Part A (15.07.2008)
Published in American journal of medical genetics. Part A (15.07.2008)
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Journal Article
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography
Levaillant, Jean-Marc, Gérard-Blanluet, Marion, Holder-Espinasse, Muriel, Valat-Rigot, Anne-Sylvie, Devisme, Louise, Cavé, Hélène, Manouvrier-Hanu, Sylvie
Published in Prenatal diagnosis (01.04.2006)
Published in Prenatal diagnosis (01.04.2006)
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Journal Article
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males
Gérard-Blanluet, Marion, Sheen, Volney, Machinis, Kalotina, Neal, Jason, Apse, Kira, Danan, Claude, Sinico, Martine, Brugières, Pierre, Mage, Katia, Ratsimbazafy, Lanto, Elbez, Annie, Janaud, Jean-Claude, Amselem, Serge, Walsh, Christopher, Encha-Razavi, Férechté
Published in American journal of medical genetics. Part A (15.05.2006)
Published in American journal of medical genetics. Part A (15.05.2006)
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Journal Article
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins
Brémond‐Gignac, Dominique, Gérard‐Blanluet, Marion, Copin, Henri, Bitoun, Pierre, Baumann, Clarisse, Crolla, J.A., Benzacken, Brigitte, Verloes, Alain
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
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Journal Article
Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome
Sinico, Martine, Touboul, Claudine, Haddad, Bassam, Encha‐Razavi, Féréchté, Paniel, Jean‐Bernard, Gicquel, Christine, Gérard‐Blanluet, Marion
Published in American journal of medical genetics. Part A (30.08.2004)
Published in American journal of medical genetics. Part A (30.08.2004)
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Journal Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
DELAHAYE, Andrée, BITOUN, Pierre, PASSEMARD, Sandrine, ABOURA, Azzedine, KALTENBACH, Sophie, QUENTIN, Samuel, DUPONT, Céline, TABET, Anne-Claude, AMSELEM, Serge, ELION, Jacques, GRESSENS, Pierre, PIPIRAS, Eva, DRUNAT, Séverine, BENZACKEN, Brigitte, GERARD-BLANLUET, Marion, CHASSAING, Nicolas, TOUTAIN, Annick, VERLOES, Alain, GATELAIS, Frédérique, LEGENDRE, Marie, FAIVRE, Laurence
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
CEMARA an information system for rare diseases
Landais, Paul, Messiaen, Claude, Rath, Ana, Le Mignot, Loïc, Dufour, Eric, Ben Said, Mohamed, Jais, Jean-Philippe, Toubiana, Laurent, Baujat, Geneviève, Bourdon-Lanoy, Eva, Gérard-Blanluet, Marion, Bodemer, Christine, Salomon, Rémi, Aymé, Ségolène, Le Merrer, Martine, Verloes, Alain
Published in Studies in health technology and informatics (2010)
Published in Studies in health technology and informatics (2010)
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Journal Article
Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis
Gérard-Blanluet, Marion, Lambert, Véronique, Khung-Savatovsky, Suonavy, Perrin-Sabourin, Laurence, Passemard, Sandrine, Baumann, Clarisse, Delezoide, Anne-Lise, Verloes, Alain
Published in Fetal and pediatric pathology (01.01.2011)
Published in Fetal and pediatric pathology (01.01.2011)
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Journal Article
High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
Chaste, Pauline, Betancur, Catalina, Gérard-Blanluet, Marion, Bargiacchi, Anne, Kuzbari, Suzanne, Drunat, Séverine, Leboyer, Marion, Bourgeron, Thomas, Delorme, Richard
Published in Molecular autism (27.06.2012)
Published in Molecular autism (27.06.2012)
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Journal Article
Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome
Sweney, Matthew T, Silver, Kenneth, Gerard-Blanluet, Marion, Pedespan, Jean-Michel, Renault, Francis, Arzimanoglou, Alexis, Schlesinger-Massart, Mylynda, Lewelt, Aga J, Reyna, Sandra P, Swoboda, Kathryn J
Published in Pediatrics (Evanston) (01.03.2009)
Published in Pediatrics (Evanston) (01.03.2009)
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Journal Article
Classical West “syndrome” phenotype with a subtelomeric 4p trisomy
Gérard‐Blanluet, Marion, Romana, S., Munier, C., Le Lorc'h, M., Kanafani, S., Sinico, M., Touboul, C., Levaillant, J.M., Haddad, B., Lopez, N., Lelong, F., de Villemeur, T. Billette, Verloes, A., Borghi, E.
Published in American journal of medical genetics. Part A (15.10.2004)
Published in American journal of medical genetics. Part A (15.10.2004)
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Journal Article
Mosaic trisomy 9 and lobar holoprosencephaly
Gérard-Blanluet, Marion, Danan, Claude, Sinico, Martine, Lelong, Françoise, Borghi, Elsa, Dassieu, Gilles, Janaud, Jean-Claude, Odent, Sylvie, Encha-Razavi, Férechté
Published in American journal of medical genetics (15.08.2002)
Published in American journal of medical genetics (15.08.2002)
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Journal Article
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency
Gerard‐Blanluet, Marion, Port‐Lis, Marylin, Baumann, Clarisse, Perrin‐Sabourin, Laurence, Ebrad, Patrick, Audry, Georges, Delezoide, Anne‐Lise, Verloes, Alain
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
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
Deffert, Christine, Niel, Florence, Mochel, Fanny, Barrey, Catherine, Romana, Claudia, Souied, Eric, Stoetzel, Corinne, Goossens, Michel, Dollfus, Helene, Verloes, Alain, Girodon, Emmanuelle, Gerard-Blanluet, Marion
Published in American journal of medical genetics. Part A (15.01.2007)
Published in American journal of medical genetics. Part A (15.01.2007)
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Journal Article
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard, S, Dubourg, C, Gérard-Blanluet, M, Delahaye, A, Pasquier, L, Dupont, C, Henry, C, Tabet, A-C, Lucas, J, Aboura, A, David, V, Benzacken, B, Odent, S, Pipiras, E
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Journal Article
Prenatal skin edema mimicking a recurrence of meningo-encephalocele
Blanluet-Gerard, Marion, Patkaï, Juliana, Simon, Isabelle, Levaillant, Jean-Marc, Haddad, Bassam
Published in Prenatal diagnosis (01.02.2003)
Published in Prenatal diagnosis (01.02.2003)
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Journal Article
Mosaic trisomy 15 and hemihypertrophy
Gérard-Blanluet, Marion, Elbez, Annie, Bazin, Anne, Danan, Claude, Verloes, Alain, Janaud, Jean-Claude
Published in Annales de génétique (01.07.2001)
Published in Annales de génétique (01.07.2001)
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