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1
المؤلفون: Francesca Romana Grati, Bettina Bessieres-Grattagliano, Claire Beneteau, Nina Horelli-Kuitunen, François Vialard, D. Molina-Gomes, Jose Antonio Martínez-Conejero, Céline Dupont, Kwong Wai Choy, Azzedine Aboura, Sylvie Jaillard, Justine Besseau-Ayasse, Giuseppe Simoni, Marie-Laure Maurin, Aurélie Coussement, Anne-Claude Tabet, Jérôme Toutain, Gustavo Ayala, Brigitte Benzacken
المصدر: Prenatal Diagnosis. 35:35-43
مصطلحات موضوعية: Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Obstetrics and Gynecology, Chromosome, Prenatal diagnosis, medicine.disease, Phenotype, 3. Good health, Medicine, Copy-number variation, Expressivity (genetics), business, Genetics (clinical), Comparative genomic hybridization
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2
المؤلفون: I. Tillous‐Borde, A. Azancot, C. Dupont, A. Fuentes‐Duarte, Anne Bazin, Suonavy Khung-Savatovsky, Azzedine Aboura, Anne-Lise Delezoide, Fabien Guimiot
المصدر: American Journal of Medical Genetics Part A. 161:208-213
مصطلحات موضوعية: Heart Septal Defects, Ventricular, Pathology, medicine.medical_specialty, Karyotype, Prenatal diagnosis, Biology, Polymorphism, Single Nucleotide, Young Adult, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Cardiac Surgical Procedures, In Situ Hybridization, Fluorescence, Genetics (clinical), Fetus, Maternal Transmission, Tricuspid valve, Interrupted aortic arch type A, Anatomy, Microarray Analysis, medicine.disease, GATA4 Transcription Factor, Phenotype, medicine.anatomical_structure, cardiovascular system, Atrioventricular canal, Gestation, Female, Tricuspid Valve, Chromosome Deletion, Gene Deletion, Chromosomes, Human, Pair 8, Follow-Up Studies, Genome-Wide Association Study
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3
المؤلفون: Céline Dupont, Francesca Romana Grati, Devika Ganesamoorthy, Howard R. Slater, François Vialard, Giuseppe Simoni, Anne Claude Tabet, Fabien Guimiot, Anna Maria Ruggeri, Francesca Malvestiti, Denise Molina Gomes, Livia Marcato, Federico Maggi, Eleonore Blondeel, Laurence Loeuillet, R. Wainer, Simona De Toffol, Azzedine Aboura
المصدر: Prenatal Diagnosis. 33:32-41
مصطلحات موضوعية: Genetics, Bacterial artificial chromosome, Contig, medicine.diagnostic_test, Obstetrics and Gynecology, Aneuploidy, Karyotype, Molecular Technique, Gold standard (test), Biology, medicine.disease, Products of conception, medicine, Genetics (clinical), Genetic testing
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4
المؤلفون: I Denjoy, Clarisse Baumann, Alain Verloes, S Soudée, Yline Capri, Azzedine Aboura, Sylvie Rossignol, Sophie Kaltenbach
المصدر: Clinical Genetics. 84:78-81
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Long QT syndrome, Breakpoint, Beckwith–Wiedemann syndrome, Chromosome, Chromosomal translocation, Biology, medicine.disease, Exon, Endocrinology, Internal medicine, medicine, Allele, Genetics (clinical), Aunt
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5
المؤلفون: Azzedine Aboura, Emmanuel Spaggiari, Martine Sinico, Céline Dupont, A. L. Delezoide, Philippe Mabboux, Fabien Guimiot
المصدر: European Journal of Medical Genetics. 55:498-501
مصطلحات موضوعية: Adult, animal structures, Abnormal Karyotype, Genetic Counseling, Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, Craniosynostosis, Fatal Outcome, Pregnancy, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetics (clinical), Comparative Genomic Hybridization, Coronal craniosynostosis, business.industry, Twist-Related Protein 1, Nuclear Proteins, General Medicine, Acrocephalosyndactylia, medicine.disease, Radiography, Cancer research, Etiology, TWIST1 gene, Female, Saethre–Chotzen syndrome, Chromosome Deletion, business, Abortion, Eugenic, Chromosomes, Human, Pair 7
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6
المؤلفون: Azzedine Aboura, Lamia Kerdjana, Joël Coste, Brigitte Benzacken, Anne-Claude Tabet, Diana Bolca, Jean-Claude Carel, Marie Devernay, Emmanuel Ecosse, Benedicte Gerard
المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E1241-E1248
مصطلحات موضوعية: Adult, Parents, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Inheritance Patterns, Turner Syndrome, Context (language use), Biology, Biochemistry, Cohort Studies, Young Adult, Endocrinology, Internal medicine, Turner syndrome, medicine, Humans, Parent-Child Relations, Child, education, X chromosome, Chromosomes, Human, X, education.field_of_study, medicine.diagnostic_test, Human Growth Hormone, Biochemistry (medical), Karyotype, Prognosis, medicine.disease, Body Height, Growth hormone treatment, Treatment Outcome, Female, Cohort study, Fluorescence in situ hybridization
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7
المؤلفون: Azzedine Aboura, Sophie Brisset, Véronique Haddad, Luc Druart, Narjes Guediche, Lucie Tosca, A.E. Mas, Gérard Tachdjian, Olivier Picone, Aurore Coulomb L'Herminé
المصدر: American Journal of Medical Genetics Part A. :894-900
مصطلحات موضوعية: Male, Neocentromere, Marker chromosome, Karyotype, Biology, Ultrasonography, Prenatal, Fetus, Pregnancy, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Small supernumerary marker chromosome, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 13, Chromosomal inversion, Comparative Genomic Hybridization, Chromosomes, Human, Pair 13, medicine.disease, Molecular biology, Chromosome Banding, Pregnancy Complications, Chromosome Inversion, Tetrasomy, Chromosomal region, Female, Lymphangioma, Cystic
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8
المؤلفون: Azzedine Aboura, Clarisse Baumann, L. Maury, Sara Osimani, Suonavy Khung, Alain Verloes, Olivier Baud, Valérie Biran, Ghislaine Sterkers, Thomas Schmitz, Sonia Masmoudi, Séverine Drunat, Marie Bornes, Jean-Hugues Dalle, C. Farnoux
المصدر: Pediatrics. 128:e458-e463
مصطلحات موضوعية: Male, Time Factors, Fetofetal transfusion, Chimerism, Dizygotic twins, Immune tolerance, Young Adult, Immune system, Pregnancy, Tissue mosaicism, Twins, Dizygotic, medicine, Humans, Twin Anemia-Polycythemia Sequence, Fetal Death, business.industry, Infant, Newborn, Chorion, Fetofetal Transfusion, medicine.disease, Phenotype, Immune System, Pediatrics, Perinatology and Child Health, Immunology, Female, business
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9
المؤلفون: A-C Tabet, Fabien Guimiot, D. Le Tessier, D Smiljkovski, J-M Dupont, Laurence Perrin, Brigitte Benzacken, Camille Lebugle, Pierre Bourdoncle, I Marey, Azzedine Aboura, Clarisse Baumann, C. Dupont
المصدر: Clinical Genetics. 82:187-192
مصطلحات موضوعية: Adolescent, Heterochromatin, Satellite DNA, Primary Immunodeficiency Diseases, Centromere, DNMT3B, DNA, Satellite, Biology, medicine.disease_cause, Chromosome instability, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Cell Nucleus, Chromosome Aberrations, Mutation, Immunologic Deficiency Syndromes, Chromosome, DNA Methylation, Chromosomes, Human, Pair 1, Face, DNA methylation, Female, Chromosomes, Human, Pair 9
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10
المؤلفون: S. Serero, Elisa Gaetani, P. Clement, Francesca Romana Grati, Livia Marcato, Beatrice Grimi, Brigitte Benzacken, D. Molina Gomes, François Vialard, Jacqueline Selva, E. Rouleau, Azzedine Aboura, A. Joseph, Giuseppe Simoni, S. De Toffol, P. Bouhanna, Federico Maggi
المصدر: Prenatal Diagnosis. 31:500-508
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Fetus, Pregnancy, medicine.diagnostic_test, Obstetrics and Gynecology, Aneuploidy, Chorionic villus sampling, Karyotype, Prenatal diagnosis, Biology, medicine.disease, medicine, Multiplex, Advanced maternal age, Genetics (clinical)
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11
المؤلفون: Séverine Drunat, Patrick Edery, Laurence Perrin, Alain Verloes, Audrey Labalme, Sandrine Passemard, Azzedine Aboura, Manuel Schiff, D Sanlaville, Andrée Delahaye, Sylvie Manouvrier-Hanu, Brigitte Benzacken, Sonia Bouquillon, Joris Andrieux, Catherine Vincent-Delorme, Monique Elmaleh-Bergès
المصدر: European Journal of Medical Genetics. 53:303-308
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Lissencephaly, Classical Lissencephalies and Subcortical Band Heterotopias, Haploinsufficiency, Young Adult, PAFAH1B1, Ductus arteriosus, Genetics, medicine, Humans, Abnormalities, Multiple, Child, YWHAE, Genetics (clinical), Coloboma, business.industry, Macrocephaly, General Medicine, medicine.disease, Microcornea, medicine.anatomical_structure, 14-3-3 Proteins, Child, Preschool, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Cancer research, Female, Chromosome Deletion, medicine.symptom, business, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17
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12
المؤلفون: Laurent Mandelbrot, A. Bazin, Olivia Anselem, G. Blin, Marie-Laure Moutard, Charlotte Mechler, Catherine Garel, Azzedine Aboura
المصدر: Fetal Diagnosis and Therapy. 28:180-185
مصطلحات موضوعية: Adult, endocrine system, Embryology, medicine.medical_specialty, Amniotic fluid, Chorionic villus sampling, Chromosome Disorders, Prenatal diagnosis, Ultrasonography, Prenatal, Corpus Callosum, Fetal Development, Pregnancy, Chromosome 18, Prenatal Diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, False Negative Reactions, reproductive and urinary physiology, medicine.diagnostic_test, Mosaicism, Obstetrics, business.industry, Cytogenetics, Obstetrics and Gynecology, Karyotype, General Medicine, Stillbirth, medicine.anatomical_structure, Chorionic Villi Sampling, Karyotyping, embryonic structures, Pediatrics, Perinatology and Child Health, Amniocentesis, Chorionic villi, Female, Chorionic Villi, Chromosome Deletion, Chromosomes, Human, Pair 18, business
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13
المؤلفون: Stéphane Serero, Alain Verloes, Marion Gérard-Blanluet, Séverine Drunat, Nathalie Le Dû, Kada Krabchi, Jean-Claude Janaud, Céline Dupont, Clarisse Baumann, Annie Elbez, Azzedine Aboura, Anne-Claude Tabet, Brigitte Benzacken, Valérie Bélien, Marie-Line Jacquemont
المصدر: American Journal of Medical Genetics Part A. :1871-1874
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Chromosomes, Human, Pair 22, Marker chromosome, Aneuploidy, Biology, Trisomy 22, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Supernumerary, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, Genetics (clinical), Fetal Growth Retardation, medicine.diagnostic_test, Infant, Syndrome, Anatomy, medicine.disease, Cat eye syndrome, Coloboma, Phenotype, Pulmonary Veins, Female, Chromosome 22, Fluorescence in situ hybridization
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14
المؤلفون: Caroline Schluth-Bolard, Claudia A. L. Ruivenkamp, Brigitte Benzacken, Zeynep Tümer, Joris Andrieux, Nicole Bain, Kerry Fagan, Nicolas Chatron, Marianne Till, Damien Sanlaville, Clarisse Baumann, Odile Boute, P. Edery, Laura Bernardini, Céline Bonnet, Anna Hackett, Massimiliano Rossi, Bruno Leheup, Julie Désir, Arie van Haeringen, Séverine Drunat, Yves Alembik, Véronique Haddad, Marion Gérard, Pia Castelluccio, Anne Dieux, Helen Stewart, Azzedine Aboura, Elisabeth Flori, Laura Roos, Joanna McParland
المساهمون: Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], Hospices Civils de Lyon (HCL), Unité de Cytogénétique [CHU Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Service de Génétique clinique, Unité de Génétique Clinique [CHU Debré], Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de génétique [Hôpial Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Cytogénétique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service de Génétique Clinique [Hautepierre Strasbourg], Hôpital de Hautepierre [Strasbourg], Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Ospedale Cardarelli, Department of Clinical Genetics [Copenhagen], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, University of Newcastle [Australia] (UoN), Department of Clinical Genetics, Leiden University Medical Centre, Clinical Cytogeneticist Laboratory for Diagnostic Genome Analysis [Leiden University Medical Center], Leiden University Medical Center (LUMC), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Cytogénétiqué, Hôpital Jean-Verdier, Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Newcastle [Callaghan, Australia] (UoN), Universiteit Leiden-Universiteit Leiden, École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩
American Journal of Medical Genetics Part A, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩
American Journal of Medical Genetics Part A, 167(5), 1008-1017مصطلحات موضوعية: Adult, Male, Microcephaly, Pathology, medicine.medical_specialty, Microarray, Adolescent, [SDV]Life Sciences [q-bio], growth retardation, Biology, Single transverse palmar crease, Genetics, medicine, Humans, 1q24q25 deletion, Sex organ, Abnormalities, Multiple, 10. No inequality, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Aged, Comparative Genomic Hybridization, Brachydactyly, Infant, Newborn, brachydactyly, Chromosome, Infant, Middle Aged, DNM3, medicine.disease, Phenotype, Chromosomes, Human, Pair 1, intellectual disability, Child, Preschool, Female, medicine.symptom, Chromosome Deletion
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المؤلفون: Céline Dupont, Richard Delorme, Sandrine Passemard, Laurence Perrin, Gudrun Nygren, Delphine Héron, Marion Leboyer, Azzedine Aboura, Françoise Devillard, Anne-Claude Tabet, Christopher Gillberg, Marion Pilorge, Catalina Betancur, Brigitte Benzacken, Aurélia Jacquette, Jean-Pierre Siffroi, Mary Coleman, Andrée Delahaye, Pierre Bitoun, Elsa Delaby, Alain Verloes, Marion Gérard
المساهمون: Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Gillberg Neuropsychiatry Centre [Göteborg, Sueden], Institute of Neuroscience and Physiology [Göteborg]-University of Gothenburg (GU), Pôle Couple-Enfant, Département de Génétique et Procréation, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Neurologie, Hôpital Robert Debré, Groupe de recherche clinique 'déficience intellectuelle et autisme', Université Pierre et Marie Curie - Paris 6 (UPMC), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Unité de Cytogénétiqué, Hôpital Jean-Verdier, Service de Pédiatrie [Jean Verdier], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Foundation for Autism Research, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, AP HP, Reprod Biol Unit CECOS, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by Fondation de France, INSERM, and Institut de France., Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Gillberg Neuropsychiatry Centre, University of Gothenburg (GU), CHU de Grenoble, Hôpital Couple-Enfant, Département de Génétique et Procréation, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique [Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service de Génétique et d'Embryologie Médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Centre Hospitalier Universitaire Jean Verdier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Betancur, Catalina
المصدر: Molecular Autism
Molecular Autism, BioMed Central, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩
Molecular Autism, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩مصطلحات موضوعية: de novo, CNV, translocation, autism spectrum disorder, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Bioinformatics, duplication Wolf-Hirschhorn region, Autism Diagnostic Observation Schedule, inversion, Developmental Neuroscience, Dysmorphic feature, balanced chromosomal rearrangement, mental disorders, Gene duplication, Intellectual disability, medicine, copy number variant, Copy-number variation, deletion, Molecular Biology, Genetics, RFX3, SNP microarray, [SDV.GEN]Life Sciences [q-bio]/Genetics, 2q37 deletion syndrome, Research, 7q21.3q22.1 deletion, 18p11.22p11.31 deletion, medicine.disease, Human genetics, 3. Good health, karyotype, Psychiatry and Mental health, duplication, Autism spectrum disorder, Developmental Biology, SNP array
وصف الملف: application/pdf
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المؤلفون: Azzedine Aboura, Philippe Labrune, V. Poncet, P Trioche, Sophie Brisset, G Tachdjian, M. Le Lorc'h, Marie-Laure Maurin
المصدر: American Journal of Medical Genetics Part A. :2324-2329
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Biology, Craniofacial Abnormalities, Cytogenetics, Intellectual Disability, Myopia, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Human, Pair 14, Psychomotor retardation, Long philtrum, Brain, Infant, Chromosome, Subtelomere, Phenotype, Hypotonia, Child, Preschool, Muscle Hypotonia, Female, Chromosome Deletion, medicine.symptom
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المؤلفون: Philippe Labrune, Marc Dommergues, Azzedine Aboura, Sophie Brisset, Vincent Gajdos, Gérard Tachdjian
المصدر: Fetal Diagnosis and Therapy. 21:428-432
مصطلحات موضوعية: Embryology, Monosomy, Aneuploidy, Gestational Age, Biology, Pregnancy, Prenatal Diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, In Situ Hybridization, Fluorescence, Chromosomal inversion, medicine.diagnostic_test, Obstetrics and Gynecology, Chromosome, Karyotype, General Medicine, medicine.disease, Molecular biology, Chromosome Banding, Trophoblasts, Chorionic Villi Sampling, Child, Preschool, Chromosomes, Human, Pair 2, Chromosome Inversion, Pediatrics, Perinatology and Child Health, Chromosomal region, Female, Gene Deletion, Fluorescence in situ hybridization, Comparative genomic hybridization
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المؤلفون: Didier Bouscary, Sylvie Ramond, Jean-Pierre Marie, Alain Delmer, Franck Viguié, Azzedine Aboura, Nicole Casadevall, Gérard Tachdjian
المصدر: Leukemia. 19:1411-1415
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Pathology, Chromosomal translocation, Biology, Translocation, Genetic, Internal medicine, medicine, Humans, Genes, Tumor Suppressor, In Situ Hybridization, Fluorescence, Gene Rearrangement, Hematology, Myeloid leukemia, Hematopoietic stem cell, Karyotype, Middle Aged, Hematopoietic Stem Cells, medicine.disease, Lymphoma, medicine.anatomical_structure, Oncology, Leukemia, Myeloid, Myelodysplastic Syndromes, Acute Disease, Female, Bone marrow, Chromosome Deletion, Chromosomes, Human, Pair 4, Stem cell
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المؤلفون: Anne Le Du, Moncef Benkhalifa, Gérard Tachdjian, Renato Fanchin, René Frydman, Nelly Frydman, Azzedine Aboura, François Petit
المصدر: Journal of Andrology. 26:235-241
مصطلحات موضوعية: Male, medicine.medical_specialty, Urology, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Aneuploidy, Semen, Biology, Intracytoplasmic sperm injection, Andrology, Endocrinology, Predictive Value of Tests, Pregnancy, medicine, Humans, Sperm Injections, Intracytoplasmic, reproductive and urinary physiology, Gynecology, urogenital system, Pregnancy Outcome, Karyotype, Oligospermia, Embryo Transfer, medicine.disease, Spermatozoa, Sperm, Embryo transfer, Reproductive Medicine, Female, Ploidy
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المؤلفون: Azzedine Aboura, I. Creveaux, L. Foix-Hélias, M. Mohammed, Philippe Labrune, Gérard Tachdjian, Odile Boespflug-Tanguy, M. Benkhalifa, J.F. Gadisseux
المصدر: American Journal of Medical Genetics Part A. :273-280
مصطلحات موضوعية: Genetics, Gene duplication, Chromosomal region, Karyotype, Prenatal diagnosis, Biology, Skewed X-inactivation, Genetics (clinical), X chromosome, X-inactivation, Comparative genomic hybridization