FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Doyard, Mathilde, Bacrot, Séverine, Huber, Céline, Di Rocco, Maja, Goldenberg, Alice, Aglan, Mona S, Brunelle, Perrine, Temtamy, Samia, Michot, Caroline, Otaify, Ghada A, Haudry, Coralie, Castanet, Mireille, Leroux, Julien, Bonnefont, Jean-Paul, Munnich, Arnold, Baujat, Geneviève, Lapunzina, Pablo, Monnot, Sophie, Ruiz-Perez, Victor L, Cormier-Daire, Valérie
Published in Journal of medical genetics (01.04.2018)
Published in Journal of medical genetics (01.04.2018)
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Journal Article
Utility of genetic testing for prenatal presentations of hypophosphatasia
Sperelakis-Beedham, Brian, Taillandier, Agnès, Domingues, Christelle, Guberto, Mihelaiti, Colin, Estelle, Porquet-Bordes, Valérie, Rothenbuhler, Anya, Salles, Jean-Pierre, Wenkert, Deborah, Zankl, Andreas, Muti, Christine, Bacrot, Séverine, Simon-Bouy, Brigitte, Mornet, Etienne
Published in Molecular genetics and metabolism (01.03.2021)
Published in Molecular genetics and metabolism (01.03.2021)
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Journal Article
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome
Bacrot, Séverine, Doyard, Mathilde, Huber, Céline, Alibeu, Olivier, Feldhahn, Niklas, Lehalle, Daphné, Lacombe, Didier, Marlin, Sandrine, Nitschke, Patrick, Petit, Florence, Vazquez, Marie-Paule, Munnich, Arnold, Cormier-Daire, Valérie
Published in Human mutation (01.02.2015)
Published in Human mutation (01.02.2015)
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Journal Article
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature
Le Van Quyen, Pauline, Calmels, Nadège, Bonnière, Maryse, Chartier, Suzanne, Razavi, Féréchté, Chelly, Jamel, El Chehadeh, Salima, Baer, Sarah, Boutaud, Lucile, Bacrot, Séverine, Obringer, Cathy, Favre, Romain, Attié‐Bitach, Tania, Laugel, Vincent, Antal, Maria C.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus
Bacrot, Séverine, Monnot, Sophie, Haddad, Georges, Barcia, Giulia, Rachid, Myriam, Boisson, Marie, Pasquier, Nathalie, Rondeau, Sophie, Munnich, Arnold, Steffann, Julie, Bonnefont, Jean‐Paul, Raynaud, Martine
Published in Prenatal diagnosis (01.04.2019)
Published in Prenatal diagnosis (01.04.2019)
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Journal Article
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1
Bacrot, Séverine, Mechler, Charlotte, Talhi, Naima, Martin-Coignard, Dominique, Roth, Philippe, Michot, Caroline, Ichkou, Amale, Alibeu, Olivier, Nitschke, Patrick, Thomas, Sophie, Vekemans, Michel, Razavi, Férechté, Boutaud, Lucile, Attie-Bitach, Tania
Published in Birth defects research (03.04.2018)
Published in Birth defects research (03.04.2018)
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Journal Article
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
Khan, Aliya A., Brandi, Maria Luisa, Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Lewiecki, E. Michael
Published in Osteoporosis international (01.03.2024)
Published in Osteoporosis international (01.03.2024)
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Journal Article
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Brandi, Maria Luisa, Khan, Aliya A., Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Roux, Christian
Published in Osteoporosis international (01.03.2024)
Published in Osteoporosis international (01.03.2024)
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Journal Article
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
Rush, Eric, Brandi, Maria Luisa, Khan, Aliya, Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Starling, Susan R., Ward, Leanne, Yao, Liang, Brignardello-Petersen, Romina, Simmons, Jill H.
Published in Osteoporosis international (2024)
Published in Osteoporosis international (2024)
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Journal Article
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
Khan, Aliya A., Brandi, Maria Luisa, Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Michael Lewiecki, E.
Published in Osteoporosis international (01.05.2024)
Published in Osteoporosis international (01.05.2024)
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Journal Article
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C., Rossi, Sabrina, Delezoïde, Anne L., Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R.
Published in Clinical case reports (01.04.2014)
Published in Clinical case reports (01.04.2014)
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Journal Article
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T, Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S, Kurdi, Wesam I Y, Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S, Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S, Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H
Published in The Journal of experimental medicine (02.03.2020)
Published in The Journal of experimental medicine (02.03.2020)
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Journal Article
Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues
Baujat, Genevieve, Borghese, Roxana, Sonigo, Pascale, Bacrot, Severine, Bengoa, Joana, Michot, Caroline, Millischer, Anne-Elodie, Rondeau, Sophie, Childs, Beatrice, Attie-Bittach, Tania, Bessieres, Bettina, Salomon, Laurent, Ville, Yves, Bonnefont, Jean-Paul, Steffann, Julie, Cormier-Daire, Valerie
Published in Bone Abstracts (31.07.2019)
Published in Bone Abstracts (31.07.2019)
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Journal Article
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature
Le Van Quyen, Pauline, Calmels, Nadège, Bonnière, Maryse, Chartier, Suzanne, Razavi, Féréchté, Chelly, Jamel, El Chehadeh, Salima, Baer, Sarah, Boutaud, Lucile, Bacrot, Séverine, Obringer, Cathy, Favre, Romain, Attié-Bitach, Tania, Laugel, Vincent, Antal, Maria C
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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