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Your search keyword '"Bacrot, Severine"' showing total 6 results
Start Over Author "Bacrot, Severine" Publication Type Academic Journals
6 results on '"Bacrot, Severine"'

1. The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance

Author

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, and Roux, Christian

Published
2024
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2. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

Author

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, and Lewiecki, E. Michael

Published
2024
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3. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group

Author

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, and Simmons, Jill H.

Published
2024
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4. Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

Author

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, and Michael Lewiecki, E.

Published
2024
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5. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Author

Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, and Houlden H

Subjects
Humans, Spectrin genetics, Mutation, Phenotype, Ataxia, Seizures, Paraplegia, Pedigree, Epilepsy genetics, Spastic Paraplegia, Hereditary genetics
Abstract

Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants., Methods: We carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Functional studies were performed on fibroblasts from 2 patients., Results: Statistically significant enrichment of rare (minor allele frequency < 1 × 10 -5 ) probably damaging SPTAN1 variants was identified in families with hereditary ataxia (HA) or hereditary spastic paraplegia (HSP) (12/1142 cases vs 52/23,847 controls, p = 2.8 × 10 -5 ). We identified 31 individuals carrying SPTAN1 heterozygous variants or deletions. A total of 10 patients presented with pure or complex HSP/HA. The remaining 21 patients had developmental delay and seizures. Irregular αII-spectrin aggregation was noted in fibroblasts derived from 2 patients with p.(Arg19Trp) and p.(Glu2207del) variants., Conclusion: We found that SPTAN1 is a genetic cause of neurodevelopmental disorder, which we classified into 3 distinct subgroups. The first comprises developmental epileptic encephalopathy. The second group exhibits milder phenotypes of developmental delay with or without seizures. The final group accounts for patients with pure or complex HSP/HA., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2023
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6. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Author

Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, and Grati FR

Abstract

Key Clinical Message: Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.

Published
2014
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