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1
المؤلفون: Agnès Choiset, Françoise Goutières, Catherine Turleau, Sylvie Girard-Orgeolet, Marguerite Prieur, Azarnouche Ardalan
المصدر: American Journal of Medical Genetics Part A. :288-293
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Chromosomes, Human, Pair 20, Aneuploidy, Ring chromosome 20, Biology, Diagnosis, Differential, Cryptorchidism, Genetics, medicine, Humans, Abnormalities, Multiple, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion, Recombination, Genetic, Epilepsy, medicine.diagnostic_test, Cytogenetics, Infant, Chromosome Breakage, Karyotype, medicine.disease, Molecular biology, Child, Preschool, Karyotyping, Chromosome Inversion, Microcephaly, Chromosome 20, Chromosome breakage, Fluorescence in situ hybridization
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2
المؤلفون: Marie-France Portnoï, Azarnouche Ardalan, Gilles Roger, Jean-Louis Taillemite, Francis Gold, Nicolas Gruchy, Sarah Ducrocq, Lina Finkel, Valérie Malan, Valérie Biran-Mucignat, Sandrine Marlin, Fanny Lebas
المصدر: American Journal of Medical Genetics Part A. :47-51
مصطلحات موضوعية: Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Velopharyngeal Insufficiency, Hearing loss, Chromosomes, Human, Pair 22, Biology, Diagnosis, Differential, Velopharyngeal insufficiency, Gene Duplication, DiGeorge syndrome, Gene duplication, DiGeorge Syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Family Health, medicine.diagnostic_test, Infant, Syndrome, medicine.disease, Chromosome Banding, Face, Karyotyping, Female, medicine.symptom, 22q11.2 duplication syndrome, Chromosome 22, Fluorescence in situ hybridization
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3
المؤلفون: Damien Sanlaville, Marie-France Portnoï, François Vialard, Azarnouche Ardalan, Alain Corré, Bernard Devauchelle, Valérie Malan, Tanguy Martin-Denavit, Marc Nouchy, François Thépot, Patrice Nizard, Luce Vue-Droy, Jean-Louis Taillemite
المصدر: American Journal of Medical Genetics Part A. :325-330
مصطلحات موضوعية: Genetics, Testis determining factor, Chromosomal translocation, Locus (genetics), Karyotype, DAX1, Sex reversal, Biology, Y chromosome, Genetics (clinical), X chromosome
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4
المؤلفون: Dominique Vidaud, Pascale Fanen, Azarnouche Ardalan, Florence Niel, Elisabeth Flori, Michel Vidaud, Michel Goossens, Emmanuelle Girodon, Bruno Costes, Patricia Conteville
المصدر: Scopus-Elsevier
مصطلحات موضوعية: medicine.medical_specialty, Fetus, Pregnancy, Pathology, Amniotic fluid, biology, Genetic counseling, Biochemistry (medical), Clinical Biochemistry, Gene Dosage, Cystic Fibrosis Transmembrane Conductance Regulator, Karyotype, medicine.disease, Polymerase Chain Reaction, Gastroenterology, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Prenatal Diagnosis, Internal medicine, medicine, biology.protein, Humans, Family history, Sequence Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2bdd4be8988c4de3a0940a5e2288523
https://doi.org/10.1093/clinchem/46.9.1417 -
5
المؤلفون: Nouha Bouayed-Abdelmoula, François Vialard, Jamel Chelly, Julie Stephann, Myriam Mirc, Patrick Daoud, Ramzi Zemni, Marc Nouchy, Henry Castaing, Jean-Louis Taillemite, Azarnouche Ardalan, Marie-France Portnoï
المصدر: Clinical Genetics. 58:116-122
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Dosage compensation, medicine.diagnostic_test, Cytogenetics, Karyotype, Biology, Molecular biology, X-inactivation, Gene duplication, medicine, Skewed X-inactivation, Genetics (clinical), X chromosome, Fluorescence in situ hybridization
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6
المؤلفون: Jean Marie Lebrun, Anouck Schneider, Azarnouche Ardalan, Nathalie Collot, Pierre Mauran, Nathalie Bednarek, Martine Doco-Fenzy, Florence Dastot-Le Moal, Sylvie Bock, Juliette Albuisson, Stéphanie Struski, Dominique Gaillard, Michel Goossens
المصدر: American journal of medical genetics. Part A. 140(3)
مصطلحات موضوعية: Heart Defects, Congenital, Chromosomes, Artificial, Bacterial, Aneuploidy, Facial Muscles, Biology, Corpus Callosum, Molecular cytogenetics, Bicuspid aortic valve, Oculomotor Nerve, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Trigeminal Nerve, Genetics (clinical), Growth Disorders, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Chromosomes, Human, Pair 12, Genome, Human, Nucleic Acid Hybridization, Anatomy, Marcus Gunn phenomenon, medicine.disease, Hypoplasia, Chromosome Banding, Child, Preschool, Karyotyping, Female, Trisomy, Comparative genomic hybridization
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7
المؤلفون: Joaquina Silva, Alberto Barros, Susana Fernandes, Mário Sousa, Ana Grangeia, Luis Ferrás, Florence Niel, Azarnouche Ardalan, Filipa Carvalho, Emmanuelle Girodon
المصدر: Human reproduction (Oxford, England). 19(11)
مصطلحات موضوعية: Male, medicine.medical_specialty, Poly T, Population, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Gene mutation, medicine.disease_cause, Kidney, Cystic fibrosis, Vas Deferens, Gene Frequency, Reference Values, Internal medicine, medicine, Humans, education, Allele frequency, Infertility, Male, Azoospermia, education.field_of_study, Mutation, Portugal, Rehabilitation, Obstetrics and Gynecology, Oligospermia, medicine.disease, Congenital absence of the vas deferens, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Endocrinology, Reproductive Medicine, biology.protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa749ec6ae85438d9e9885485f608f1
https://pubmed.ncbi.nlm.nih.gov/15333598 -
8
المؤلفون: Damien, Sanlaville, François, Vialard, François, Thépot, Luce, Vue-Droy, Azarnouche, Ardalan, Patrice, Nizard, Alain, Corré, Bernard, Devauchelle, Tanguy, Martin-Denavit, Marc, Nouchy, Valérie, Malan, Jean-Louis, Taillemite, Marie-France, Portnoï
المصدر: American journal of medical genetics. Part A. (3)
مصطلحات موضوعية: Chromosomes, Human, X, Chromosomes, Human, Y, DAX-1 Orphan Nuclear Receptor, Receptors, Retinoic Acid, Disorders of Sex Development, Syndrome, Translocation, Genetic, DNA-Binding Proteins, Repressor Proteins, Genes, Duplicate, Child, Preschool, Intellectual Disability, Karyotyping, Humans, Abnormalities, Multiple, Female, Sex Chromosome Aberrations
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9دورية أكاديمية
المؤلفون: Ana Grangeia, Florence Niel, Filipa Carvalho, Susana Fernandes, Azarnouche Ardalan, Emmanuelle Girodon, Joaquina Silva, Luis Ferrs, Mrio Sousa, Alberto Barros
المصدر: Human Reproduction; Nov2004, Vol. 19 Issue 11, p2502-2508, 7p
مصطلحات موضوعية: CYSTIC fibrosis, GENETIC disorders, DIAGNOSIS, COLLOIDS
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10
المؤلفون: Muriel Payet, Christel Thauvin-Robinet, Nabila Dhouibi, Laurence Faivre, Bernard Aral, Marie Eliade, Candace Bensignor, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Azarnouche Ardalan, Sylviane Ragot, Nathalie Marle, Clémence Ragon, Laurent Desch, Julien Thevenon, Patrick Callier
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Prader-Willi-like syndrome, 6q16.3q23.3, Case Report, Bioinformatics, Biochemistry, Gene duplication, medicine, Genetics, Genetics(clinical), Overeating, Molecular Biology, Genetics (clinical), Biochemistry, medical, business.industry, Biochemistry (medical), Cytogenetics, nutritional and metabolic diseases, Complex sSMC, Array-CGH, medicine.disease, Obesity, Phenotype, Human genetics, Hypotonia, nervous system diseases, PRADER-WILLI-LIKE SYNDROME, Molecular Medicine, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88262cdf03040a44f2333b67d42a64d