Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother
Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc
Published in American journal of medical genetics. Part A (01.06.2023)
Published in American journal of medical genetics. Part A (01.06.2023)
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Journal Article
Identification of novel LFNG mutations in spondylocostal dysostosis
Otomo, Nao, Mizumoto, Shuji, Lu, Hsing-Fang, Takeda, Kazuki, Campos-Xavier, Belinda, Mittaz-Crettol, Lauréane, Guo, Long, Takikawa, Kazuharu, Nakamura, Masaya, Yamada, Shuhei, Matsumoto, Morio, Watanabe, Kota, Ikegawa, Shiro
Published in Journal of human genetics (01.03.2019)
Published in Journal of human genetics (01.03.2019)
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Journal Article
Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype
Hubert, Francois-Xavier, Kinkel, Sarah A, Crewther, Pauline E, Cannon, Ping Z. F, Webster, Kylie E, Link, Maire, Uibo, Raivo, O'Bryan, Moira K, Meager, Anthony, Forehan, Simon P, Smyth, Gordon K, Mittaz, Laureane, Antonarakis, Stylianos E, Peterson, Part, Heath, William R, Scott, Hamish S
Published in The Journal of immunology (1950) (15.03.2009)
Published in The Journal of immunology (1950) (15.03.2009)
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Journal Article
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Journal Article
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Journal Article
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase
Pollegioni, Loredano, Campanini, Barbara, Good, Jean-Marc, Motta, Zoraide, Murtas, Giulia, Buoli Comani, Valeria, Pavlidou, Despina-Christina, Mercier, Noëlle, Mittaz-Crettol, Laureane, Sacchi, Silvia, Marchesani, Francesco
Published in Scientific reports (30.05.2024)
Published in Scientific reports (30.05.2024)
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Journal Article
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea
Published in Genes (16.09.2021)
Published in Genes (16.09.2021)
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Journal Article
Partially redundant functions of Adamts1 and Adamts4 in the perinatal development of the renal medulla
Boerboom, Derek, Lafond, Jean‐François, Zheng, Xiaofeng, Lapointe, Evelyne, Mittaz, Laureane, Boyer, Alexandre, Pritchard, Melanie A., DeMayo, Francesco J., Mort, John S., Drolet, Richard, Richards, Joanne S.
Published in Developmental dynamics (01.07.2011)
Published in Developmental dynamics (01.07.2011)
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Journal Article
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
ZANKL, Andreas, JACKSON, Gail C, CORMIER-DAIRE, Valerie, HALL, Christine M, WRIGHT, Michael J, BONAFE, Luisa, SUPERTI-FURGA, Andrea, BRIGGS, Michael D, MITTAZ CRETTOL, Laureane, TAYLOR, Jacky, ELLES, Rob, MORTIER, Geert R, SPRANGER, Jurgen, ZABEL, Bernhard, UNGER, Sheila, LE MERRER, Martine
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Journal Article
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
Rieubland, Claudine, Jacquemont, Sebastien, Mittaz, Laureane, Osterheld, Maria-Chiara, Vial, Yvan, Superti-Furga, Andrea, Unger, Sheila, Bonafé, Luisa
Published in European journal of medical genetics (01.09.2010)
Published in European journal of medical genetics (01.09.2010)
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Journal Article
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray, François-Guillaume, Damjanovic, Katarina, Rosset, Robin, Mittaz-Crettol, Lauréane, Roux, Clothilde, Braissant, Olivier, Barbey, Frédéric, Bonafé, Luisa, De Bandt, Jean-Pascal, Tappy, Luc, Paquot, Nicolas, Tran, Christel
Published in The American journal of clinical nutrition (01.08.2018)
Published in The American journal of clinical nutrition (01.08.2018)
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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
Bonafé, Luisa, Kariminejad, Ariana, Li, Jia, Royer‐Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz‐Crettol, Lauréane, Campos‐Xavier, Belinda, Nampoothiri, Sheela, Unger, Sheila, Rivolta, Carlo, Levade, Thierry, Superti‐Furga, Andrea
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2016)
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Journal Article
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant
Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J., Ghika, Joseph, Baumgartner, Matthias R., Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel
Published in Annals of clinical and translational neurology (01.06.2019)
Published in Annals of clinical and translational neurology (01.06.2019)
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Journal Article
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
Gok, Faysal, Crettol, Lauréane Mittaz, Alanay, Yasemin, Hacıhamdioglu, Bulent, Kocaoglu, Murat, Bonafe, Luisa, Ozen, Seza
Published in European journal of pediatrics (01.03.2010)
Published in European journal of pediatrics (01.03.2010)
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Journal Article
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
Simon, Marleen, Campos-Xavier, Ana Belinda, Mittaz-Crettol, Lauréane, Valadares, Eugenia Ribeiro, Carvalho, Daniel, Speck-Martins, Carlos Eduardo, Nampoothiri, Sheela, Alanay, Yasemin, Mihci, Ercan, van Bever, Yolande, Garcia-Segarra, Nuria, Cavalcanti, Denise, Mortier, Geert, Bonafé, Luisa, Superti-Furga, Andrea
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
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Journal Article
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Garcia Segarra, Nuria, Mittaz, Laureane, Campos-Xavier, Ana Belinda, Bartels, Cynthia F., Tuysuz, Beyhan, Alanay, Yasemin, Cimaz, Rolando, Cormier-Daire, Valerie, Di Rocco, Maja, Duba, Hans-Christoph, Elcioglu, Nursel H., Forzano, Francesca, Hospach, Toni, Kilic, Esra, Kuemmerle-Deschner, Jasmin B., Mortier, Geert, Mrusek, Sonja, Nampoothiri, Sheela, Obersztyn, Ewa, Pauli, Richard M., Selicorni, Angelo, Tenconi, Romano, Unger, Sheila, Utine, G. Eda, Wright, Michael, Zabel, Bernhard, Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
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Journal Article
Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins
Scott, Hamish S, Heino, Maarit, Peterson, Pärt, Mittaz, Lauréane, Lalioti, Maria D, Betterle, Corrado, Cohen, Amnon, Seri, Marco, Lerone, Margherita, Romeo, Giovanni, Collin, Pekka, Salo, Matti, Metcalfe, Russell, Weetman, Anthony, Papasavvas, Marie-Pierre, Rossier, Colette, Nagamine, Kentaro, Kudoh, Jun, Shimizu, Nobuyoshi, Krohn, Kai J. E, Antonarakis, Stylianos E
Published in Molecular endocrinology (Baltimore, Md.) (01.08.1998)
Published in Molecular endocrinology (Baltimore, Md.) (01.08.1998)
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DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease
Keating, Damien J., Dubach, Daphne, Zanin, Mark P., Yu, Yong, Martin, Katherine, Zhao, Yu-Feng, Chen, Chen, Porta, Sílvia, Arbonés, Maria L., Mittaz, Laureane, Pritchard, Melanie A.
Published in Human molecular genetics (01.04.2008)
Published in Human molecular genetics (01.04.2008)
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Journal Article
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene
Mendoza-Londono, Roberto, Chitayat, David, Kahr, Walter H.A., Hinek, Aleksander, Blaser, Susan, Dupuis, Lucie, Goh, Elaine, Badilla-Porras, Ramses, Howard, Andrew, Mittaz, Laureane, Superti-Furga, Andrea, Unger, Sheila, Nishimura, Gen, Bonafe, Luisa
Published in American journal of medical genetics. Part A (01.06.2012)
Published in American journal of medical genetics. Part A (01.06.2012)
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Journal Article
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis
Ladhani, Noor Niyar N., Chitayat, David, Nezarati, Marjan M., Laureane, Mittaz Crettol, Keating, Sarah, Silver, Rachel J., Unger, Sheila, Velsher, Lea, Sirkin, Wilma, Toi, Ants, Glanc, Phyllis
Published in Prenatal diagnosis (01.11.2013)
Published in Prenatal diagnosis (01.11.2013)
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