المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Hôpital de la Timone CHU - APHM (TIMONE)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03851530; https://inserm.hal.science/inserm-03851530Test; https://inserm.hal.science/inserm-03851530/documentTest; https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest; PUBMED: 29130637; WOS: 000417872600019

الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
https://inserm.hal.science/inserm-03851530Test
https://inserm.hal.science/inserm-03851530/documentTest
https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest

المؤلفون: Jean-Pierre Siffroi, Solveig Heide, Alexandra Afenjar, Damien Sternberg, Arnaud Isapof, Mathias Schwartz, Sandra Whalen, Marie-France Portnoï, Boris Keren, Sandra Chantot-Bastaraud, Brigitte Chabrol

المساهمون: Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Couvet, Sandrine, UF de Génétique chromosomique [CHU Trousseau], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière]

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2018, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩

مصطلحات موضوعية: Male, 0301 basic medicine, choline acetyl-transferase, [SDV]Life Sciences [q-bio], Vesicular Acetylcholine Transport Proteins, MESH: Amino Acid Sequence, single nucleotide polymorphisms array, Congenital myasthenia, 0302 clinical medicine, MESH: In Situ Hybridization, Fluorescence, In Situ Hybridization, Fluorescence, Genetics (clinical), MESH: Genetic Association Studies, Oligonucleotide Array Sequence Analysis, MESH: Choline O-Acetyltransferase, Genetics, MESH: Polymorphism, Single Nucleotide, Congenital myasthenic syndrome, MESH: Infant, Choline acetyltransferase, Phenotype, [SDV] Life Sciences [q-bio], Female, Chromosome Deletion, compound heterozygoty, MESH: Myasthenic Syndromes, Congenital, vesicular acetyl-choline transporter, MESH: Mutation, MESH: Chromosome Deletion, Genes, Recessive, Locus (genetics), Single-nucleotide polymorphism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Phenotype, Polymorphism, Single Nucleotide, DNA sequencing, Choline O-Acetyltransferase, 03 medical and health sciences, medicine, Humans, Amino Acid Sequence, Gene, MESH: Genes, Recessive, Genetic Association Studies, Myasthenic Syndromes, Congenital, MESH: Humans, MESH: Vesicular Acetylcholine Transport Proteins, Chromosomes, Human, Pair 10, Infant, medicine.disease, MESH: Male, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosomes, Human, Pair 10, MESH: Oligonucleotide Array Sequence Analysis, Mutation, MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3b0c2dd902139a6e400d91b29aabb5Test
https://doi.org/10.1002/ajmg.a.38515Test

المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

المساهمون: Service de génétique et embryologie médicales CHU Trousseau, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique CHU Pitié Salpêtrière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Neuropédiatrie CHU Trousseau, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau APHP, Hôpital de la Timone CHU - APHM (TIMONE), Service de Génétique médicale CHU Pitié-Salpêtrière, CHU Pitié-Salpêtrière AP-HP

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Male, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03867699; https://www.hal.inserm.fr/inserm-03867699Test; PUBMED: 29130637

الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
https://www.hal.inserm.fr/inserm-03867699Test