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6 results on '"Bessières B"'

1. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Author

Nizon, M., Henry, M., Michot, C., Baumann, C., Bazin, A., Bessières, B., Blesson, S., Cordier-Alex, M.-P., David, A., Delahaye-Duriez, A., Delezoïde, A.-L., Dieux-Coeslier, A., Doco-Fenzy, M., Faivre, L., Goldenberg, A., Layet, V., Loget, P., Marlin, S., Martinovic, J., Odent, S., Pasquier, L., Plessis, G., Prieur, F., Putoux, A., Rio, M., Testard, H., Bonnefont, J.-P., and Cormier-Daire, V.

Published
2016
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2. Fetal phenotypes in otopalatodigital spectrum disorders

Author

Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M. P., Delezoide, A. L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., and Fergelot, P.

Published
2016
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3. A series of 38 novel germline and somatic mutations ofNIPBLin Cornelia de Lange syndrome

Author

Nizon, M., primary, Henry, M., additional, Michot, C., additional, Baumann, C., additional, Bazin, A., additional, Bessières, B., additional, Blesson, S., additional, Cordier-Alex, M.-P., additional, David, A., additional, Delahaye-Duriez, A., additional, Delezoïde, A.-L., additional, Dieux-Coeslier, A., additional, Doco-Fenzy, M., additional, Faivre, L., additional, Goldenberg, A., additional, Layet, V., additional, Loget, P., additional, Marlin, S., additional, Martinovic, J., additional, Odent, S., additional, Pasquier, L., additional, Plessis, G., additional, Prieur, F., additional, Putoux, A., additional, Rio, M., additional, Testard, H., additional, Bonnefont, J.-P., additional, and Cormier-Daire, V., additional

Published
2016
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4. Fetal phenotypes in otopalatodigital spectrum disorders

Author

Naudion, S., primary, Moutton, S., additional, Coupry, I., additional, Sole, G., additional, Deforges, J., additional, Guerineau, E., additional, Hubert, C., additional, Deves, S., additional, Pilliod, J., additional, Rooryck, C., additional, Abel, C., additional, Le Breton, F., additional, Collardeau‐Frachon, S., additional, Cordier, M.P., additional, Delezoide, A.L., additional, Goldenberg, A., additional, Loget, P., additional, Melki, J., additional, Odent, S., additional, Patrier, S., additional, Verloes, A., additional, Viot, G., additional, Blesson, S., additional, Bessières, B., additional, Lacombe, D., additional, Arveiler, B., additional, Goizet, C., additional, and Fergelot, P., additional

Published
2015
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5. Morphological and genetic causes of fetal cardiomyopathies.

Author

Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, and Richard P

Subjects
Pregnancy, Humans, Female, Genetic Testing, Mutation, Phenotype, Genetic Counseling, Cardiomyopathies diagnosis
Abstract

Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co-dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Published
2023
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6. Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Author

Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, and Attié-Bitach T

Subjects
Chylothorax diagnosis, Chylothorax genetics, Chylothorax pathology, Cleft Palate genetics, Cleft Palate pathology, Comparative Genomic Hybridization, Esophagus pathology, Female, Fetus, Genetic Diseases, X-Linked genetics, Genetic Diseases, X-Linked pathology, Humans, Hypertelorism genetics, Hypertelorism pathology, Hypospadias genetics, Hypospadias pathology, Infant, Newborn, Male, Prenatal Diagnosis methods, Chylothorax congenital, Cleft Palate diagnosis, Esophagus abnormalities, Genetic Diseases, X-Linked diagnosis, Hypertelorism diagnosis, Hypospadias diagnosis, Ubiquitin-Protein Ligases genetics
Abstract

We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome., (© 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)

Published
2020
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