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
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
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
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
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
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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Journal Article
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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
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes
Thompson, Eliza, Abdalla, Ebtesam, Superti-Furga, Andrea, McAlister, William, Kratz, Lisa, Unger, Sheila, Royer-Bertrand, Beryl, Campos-Xavier, Belinda, Mittaz-Crettol, Laureane, Amin, Asmaa K., DeSanto, Cori, Wilson, David B., Douglas, Ganka, Kozel, Beth, Shinawi, Marwan
Published in Bone (New York, N.Y.) (01.03.2019)
Published in Bone (New York, N.Y.) (01.03.2019)
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Journal Article
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
García Segarra, Nuria, Gautschi, Ivan, Mittaz-Crettol, Laureane, Kallay Zetchi, Christine, Al-Qusairi, Lama, Van Bemmelen, Miguel Xavier, Maeder, Philippe, Bonafé, Luisa, Schild, Laurent, Roulet-Perez, Eliane
Published in Journal of the neurological sciences (15.07.2014)
Published in Journal of the neurological sciences (15.07.2014)
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Journal Article
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder
Coukos, Alexander, Saglietti, Chiara, Sempoux, Christine, Haubitz, Monika, Greuter, Thomas, Mittaz-Crettol, Laureane, Maurer, Fabienne, Mdawar-Bailly, Elise, Moradpour, Darius, Alberio, Lorenzo, Good, Jean-Marc, Baerlocher, Gabriela M, Fraga, Montserrat
Published in Hepatology communications (01.08.2024)
Published in Hepatology communications (01.08.2024)
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Journal Article
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine
Published in Scientific reports (30.09.2016)
Published in Scientific reports (30.09.2016)
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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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Journal Article
Severe Neurologic Manifestations From Cervical Spine Instability in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: New Topics in the Skeletal Dysplasias
SIMON, Marleen, CAMPOS-XAVIER, Ana Belinda, GARCIA-SEGARRA, Nuria, CAVALCANTI, Denise, MORTIER, Geert, BONAFE, Luisa, SUPERTI-FURGA, Andrea, MITTAZ-CRETTOL, Laureane, RIBEIRO VALADARES, Eugenia, CARVALHO, Daniel, EDUARDO SPECK-MARTINS, Carlos, NAMPOOTHIRI, Sheela, ALANAY, Yasemin, MIHCI, Ercan, VAN BEVER, Yolande
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)
Journal Article
Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis
Mattos, Eduardo P., Magalhaes, Jose Antonio A., Mittaz-Crettol, Laureane, Azambuja, Ricardo, Okada, Lilian, Cavalcanti, Denise P., Cuzzi, Juliana, Badalotti, Mariangela, Petracco, Rafaella, Petracco, Alvaro, Schuler-Faccini, Lavinia, Sanseverino, Maria Teresa V.
Published in Open journal of obstetrics and gynecology (2014)
Published in Open journal of obstetrics and gynecology (2014)
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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, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D
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