14 results on '"Vegas, Nancy"'
Search Results
2. Mutations in TBR1 gene leads to cortical malformations and intellectual disability
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Vegas, Nancy, Cavallin, Mara, Kleefstra, Tjitske, de Boer, Lonneke, Philbert, Marion, Maillard, Camille, Boddaert, Nathalie, Munnich, Arnold, Hubert, Laurence, Bery, Amandine, Besmond, Claude, and Bahi-Buisson, Nadia
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- 2018
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3. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy
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Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, and Bahi-Buisson, Nadia
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- 2018
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4. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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Vegas, Nancy, primary, Demir, Zeynep, additional, Gordon, Christopher T., additional, Breton, Sylvain, additional, Romanelli Tavares, Vanessa L., additional, Moisset, Hugo, additional, Zechi‐Ceide, Roseli, additional, Kokitsu‐Nakata, Nancy M., additional, Kido, Yasuhiro, additional, Marlin, Sandrine, additional, Gherbi Halem, Souad, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Chung, Brian, additional, Revencu, Nicole, additional, Lehalle, Daphné, additional, Petit, Florence, additional, Propst, Evan J., additional, Papsin, Blake C., additional, Phillips, John H., additional, Jakobsen, Linda, additional, Le Tanno, Pauline, additional, Thévenon, Julien, additional, McGaughran, Julie, additional, Gerkes, Erica H., additional, Leoni, Chiara, additional, Kroisel, Peter, additional, Tan, Tiong Y., additional, Henderson, Alex, additional, Terhal, Paulien, additional, Basel‐Salmon, Lina, additional, Alkindy, Adila, additional, White, Susan M., additional, Passos‐Bueno, Maria R., additional, Pingault, Véronique, additional, De Pontual, Loïc, additional, and Amiel, Jeanne, additional
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- 2022
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5. Safety of Cyproheptadine, an Orexigenic Drug. Analysis of the French National Pharmacovigilance Data-Base and Systematic Review
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Bertrand, Valérie, primary, Massy, Nathalie, additional, Vegas, Nancy, additional, Gras, Valérie, additional, Chalouhi, Christel, additional, Tavolacci, Marie-Pierre, additional, and Abadie, Véronique, additional
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- 2021
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6. Quality of Life & Phonatory and Morphological Outcomes in Cognitively Unimpaired Adolescents With Pierre Robin Sequence – A Cross-sectional Study in a 72-patient Series
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THOUVENIN, Béatrice, primary, SOUPRE, Véronique, additional, CAILLAUD, Marie-Anne, additional, Henry-Mestelan, Charlotte, additional, CHALOUHI, Christel, additional, HOUSSAMO, Bachar, additional, Chapuis, Cécile, additional, LIND, Katia, additional, ROYER, Aurélie, additional, VEGAS, Nancy, additional, AMIEL, Jeanne, additional, COULY, Gérard, additional, PICARD, Arnaud, additional, VAIVRE-DOURET, Laurence, additional, and Abadie, Véronique, additional
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- 2021
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7. Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree
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Vegas, Nancy, primary, Low, Karen, additional, Mak, Christopher C Y, additional, Fung, Jasmine L F, additional, Hing, Anne V, additional, Chung, Brian H Y, additional, Doherty, Dan, additional, Amiel, Jeanne, additional, and Gordon, Christopher T, additional
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- 2020
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8. Scurvy: A New Old Cause of Skeletal Pain in Young Children
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Chalouhi, Christel, primary, Nicolas, Nayla, additional, Vegas, Nancy, additional, Matczak, Soraya, additional, El Jurdi, Houmam, additional, Boddaert, Nathalie, additional, and Abadie, Véronique, additional
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- 2020
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9. Delineating FOXG1 syndrome
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Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, and Bahi-Buisson, Nadia
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Article - Abstract
Objective To provide new insights into the FOXG1-related clinical and imaging phenotypes and refine the phenotype-genotype correlation in FOXG1 syndrome. Methods We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic FOXG1 variant and performed phenotype-genotype correlations. Results A total of 37 FOXG1 different heterozygous mutations were identified, of which 18 are novel. We described a broad spectrum of neurodevelopmental phenotypes, characterized by severe postnatal microcephaly and developmental delay accompanied by a hyperkinetic movement disorder, stereotypes and sleep disorders, and epileptic seizures. Our data highlighted 3 patterns of gyration, including frontal pachygyria in younger patients (26.7%), moderate simplified gyration (24.4%) and mildly simplified or normal gyration (48.9%), corpus callosum hypogenesis mostly in its frontal part, combined with moderate-to-severe myelination delay that improved and normalized with age. Frameshift and nonsense mutations in the N-terminus of FOXG1, which are the most common mutation types, show the most severe clinical features and MRI anomalies. However, patients with recurrent frameshift mutations c.460dupG and c.256dupC had variable clinical and imaging presentations. Conclusions These findings have implications for genetic counseling, providing evidence that N-terminal mutations and large deletions lead to more severe FOXG1 syndrome, although genotype-phenotype correlations are not necessarily straightforward in recurrent mutations. Together, these analyses support the view that FOXG1 syndrome is a specific disorder characterized by frontal pachygyria and delayed myelination in its most severe form and hypogenetic corpus callosum in its milder form.
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- 2018
10. DelineatingFOXG1syndrome
- Author
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Vegas, Nancy, primary, Cavallin, Mara, additional, Maillard, Camille, additional, Boddaert, Nathalie, additional, Toulouse, Joseph, additional, Schaefer, Elise, additional, Lerman-Sagie, Tally, additional, Lev, Dorit, additional, Magalie, Barth, additional, Moutton, Sébastien, additional, Haan, Eric, additional, Isidor, Bertrand, additional, Heron, Delphine, additional, Milh, Mathieu, additional, Rondeau, Stéphane, additional, Michot, Caroline, additional, Valence, Stephanie, additional, Wagner, Sabrina, additional, Hully, Marie, additional, Mignot, Cyril, additional, Masurel, Alice, additional, Datta, Alexandre, additional, Odent, Sylvie, additional, Nizon, Mathilde, additional, Lazaro, Leila, additional, Vincent, Marie, additional, Cogné, Benjamin, additional, Guerrot, Anne Marie, additional, Arpin, Stéphanie, additional, Pedespan, Jean Michel, additional, Caubel, Isabelle, additional, Pontier, Benedicte, additional, Troude, Baptiste, additional, Rivier, Francois, additional, Philippe, Christophe, additional, Bienvenu, Thierry, additional, Spitz, Marie-Aude, additional, Bery, Amandine, additional, and Bahi-Buisson, Nadia, additional
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- 2018
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11. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, and Leung, Gordon
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FACE ,DISABILITIES ,SYNDROMES ,EXPRESSIVE language ,INTELLECTUAL disabilities - Abstract
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3′ region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis. [ABSTRACT FROM AUTHOR]
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- 2020
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12. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Author
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Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, and Leung, Gordon
- Abstract
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis. [ABSTRACT FROM AUTHOR]
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- 2019
- Full Text
- View/download PDF
13. Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
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Vegas, Nancy, Low, Karen, Mak, Christopher C Y, Fung, Jasmine L F, Hing, Anne V, Chung, Brian H Y, Doherty, Dan, Amiel, Jeanne, and Gordon, Christopher T
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VELOPHARYNGEAL insufficiency , *CLEFT palate , *CONDUCTIVE hearing loss , *GENETIC mutation , *PROTEINS , *GENETIC techniques , *GENEALOGY - Abstract
However, neither Patient 1 nor Patient 2 have the facial gestalt or the more severe neurodevelopmental issues seen in patients with MCTT syndrome (Fig. Thus far, brain imaging of individuals with N-terminal MN1 truncations has not revealed the presence of those malformations typically observed in MCTT patients. LETTERTOTHE EDITOR Reply:MN1 gene loss-of-function mutation causes cleft palate in a pedigree NancyVegas, 1 KarenLow, 2 ChristopherC.Y.Mak, 3 JasmineL.F.Fung, 3 AnneV.Hing, 4,5 BrianH.Y.Chung, 3 DanDoherty, 6,7 JeanneAmiel 1,8 and ChristopherT. [Extracted from the article]
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- 2021
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14. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Author
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Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, and Gordon CT
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- Abnormalities, Multiple diagnostic imaging, Adolescent, Basilar Artery abnormalities, Basilar Artery diagnostic imaging, Carotid Arteries abnormalities, Carotid Arteries diagnostic imaging, Cerebellar Vermis abnormalities, Cerebellar Vermis diagnostic imaging, Cerebellum abnormalities, Cerebellum diagnostic imaging, Child, Child, Preschool, Cohort Studies, Comparative Genomic Hybridization, Craniofacial Abnormalities diagnostic imaging, Female, Fibroblasts metabolism, Humans, Imaging, Three-Dimensional, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Nervous System Malformations diagnostic imaging, Nonsense Mediated mRNA Decay, Polymicrogyria diagnostic imaging, Polymicrogyria genetics, RNA-Seq, Real-Time Polymerase Chain Reaction, Syndrome, Tomography, X-Ray Computed, Exome Sequencing, Whole Genome Sequencing, Abnormalities, Multiple genetics, Craniofacial Abnormalities genetics, Intellectual Disability genetics, Language Development Disorders genetics, Nervous System Malformations genetics, Trans-Activators genetics, Tumor Suppressor Proteins genetics
- Abstract
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis., (© The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
- Published
- 2020
- Full Text
- View/download PDF
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