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1
المؤلفون: Patrick Collignon, Cécile Mignon-Ravix, Peter M. Kroisel, Bruno Delobel, Chantal Missirian, Judith Luciani, Anne Moncla, Marie-Geneviève Mattei, M.-F. Croquette, Danielle Depetris, Cristina Cuoco, Małgorzata Krajewska-Walasek
المصدر: European Journal of Human Genetics. 15:432-440
مصطلحات موضوعية: Adult, Male, Monosomy, Chromosomal translocation, Biology, Translocation, Genetic, Chromosome 15, Angelman syndrome, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Chromosomes, Human, Pair 15, Breakpoint, Infant, Newborn, Chromosome Mapping, Infant, Chromosome, Chromosome Breakage, Karyotype, Telomere, medicine.disease, Child, Preschool, Karyotyping, Female, Angelman Syndrome, Chromosome breakage, Prader-Willi Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434adb32d914344009da9ea98fd440dbTest
https://doi.org/10.1038/sj.ejhg.5201775Test -
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المؤلفون: Marie-Geneviève Mattei, M. F. Croquette, Bruno Delobel, Cécile Mignon-Ravix, Danielle Depetris
المصدر: European Journal of Human Genetics. 10:107-112
مصطلحات موضوعية: Telomere-Binding Proteins, Fluorescent Antibody Technique, Chromosomal rearrangement, Biology, chemistry.chemical_compound, In vivo, Dosage Compensation, Genetic, Genetics, Humans, Telomeric Repeat Binding Protein 2, Telomeric Repeat Binding Protein 1, Metaphase, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Chromosome Aberrations, Telomere-binding protein, Infant, Newborn, Chromosome, Telomere, Molecular biology, Nucleoprotein, DNA-Binding Proteins, chemistry, Female, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f399fc17236526c19e93e7ebcc4324Test
https://doi.org/10.1038/sj.ejhg.5200775Test -
3
المؤلفون: Jeanne Amiel, F Labarriere, S Jacquot, K Merienne, M F Croquette, A Hanauer, L Vallée, Sylvie Manouvrier-Hanu, A Moerman, A Coëslier
المصدر: Journal of Medical Genetics. 36:775-778
مصطلحات موضوعية: Male, medicine.medical_specialty, X Chromosome, Genetic Linkage, FG syndrome, Mutation, Missense, Short Report, Biology, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Child, Coffin–Siris syndrome, Genetics (clinical), Coffin–Lowry syndrome, Ribosomal Protein S6 Kinases, Macrocephaly, Dysostosis, Syndrome, medicine.disease, Hypotonia, Phenotype, Endocrinology, Mutation (genetic algorithm), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2dfcc557b30d04951241235e5aa19c4Test
https://doi.org/10.1136/jmg.36.10.775Test -
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المؤلفون: C. Ratomponirina, M. F. Croquette, J. Levilliers, J. Couturier, O. Gabriel-Robez, Christine Petit, Y. Rumpler
المصدر: Cytogenetic and Genome Research. 54:38-42
مصطلحات موضوعية: Male, medicine.medical_specialty, X Chromosome, Pseudoautosomal region, Locus (genetics), Chromosomal translocation, Biology, Y chromosome, Translocation, Genetic, Y Chromosome, Genetics, medicine, Humans, Molecular Biology, Infertility, Male, Genetics (clinical), X chromosome, Cytogenetics, Karyotype, Pedigree, Blotting, Southern, Meiosis, Microscopy, Electron, Synaptonemal complex, Karyotyping, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4130c0e6c22f9c2c141d55f731c3b58dTest
https://doi.org/10.1159/000132951Test -
5
المؤلفون: Paul Lesur, Francis Collier, Bruno Delobel, Jean-Marc Rigot, M. F. Croquette, Roselyne Rousseaux-Prévost, E. Mazeman, J. Rousseaux, Alain Gauthier
المصدر: Human Genetics. 98:505-507
مصطلحات موضوعية: Adult, Male, X Chromosome, Biology, medicine.disease_cause, Y chromosome, Polymerase Chain Reaction, Gene mapping, Semen, Y Chromosome, Genetics, medicine, Humans, Lymphocytes, Genetics (clinical), Sequence Tagged Sites, Mutation, Breakpoint, Chromosome Mapping, RNA-Binding Proteins, Karyotype, Deleted in Azoospermia 1 Protein, Oligospermia, Body Height, Normal stature, Genetic marker, Karyotyping, Interval (graph theory), Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e10fbbdba8562ea173c1f3505a444b3Test
https://doi.org/10.1007/s004390050248Test -
6
المؤلفون: Lisbeth Tranebjerg, Zeynep Tümer, Iben Bache, Maria Orera, Vera M. Kalscheuer, Elisabeth Blennow, Val Davison, Klaus Wagner, David R. FitzPatrick, Isidora Lopez-Pajares, Laurence Duprez, Maj Hultén, Sultan Cingoz, Sophie Dahoun, Niels Tommerup, Margarita Stefanova, Ingo Hansmann, Jan Murken, Maryse Bonduelle, Bruno Dallapiccola, M.-F. Croquette, Tony Parkin, Kirsten Winther, Kim Smith, Fiorella Shabtai, Kirsten Rasmussen, Catherine Turleau, Claes Lundsteen, Anita Niebuhr, Elvire Van Assche, Gotthold Barbi, Eberhard Schwinger, Carl Birger van der Hagen, Bruno Delobel, Philippe Jonveaux, Nadja Kokalj Vokac, Peter Jensen, Inge Liebaers, Mads F. Hjorth, Georges Bourrouillou, Merete Bugge, Carmen Ramos, Regine Schubert, Leopoldo Zelante, Werner Schempp, Eberhard Passarge, Carmen Ayuso, Herman Tournaye, James Lespinasse, Malcolm A. Ferguson-Smith, Ulf Kristoffersson, Jan Wahlstroem, Gert Bruun-Petersen, Hans-Christoph Duba, Karen Brøndum-Nielsen, Michel Vekemans, Elizabeth Grace, Raymond L. Stallings, Jean McGowan-Jordan
المصدر: University of Copenhagen
مصطلحات موضوعية: Infertility, Genetics, Chromosome Aberrations, Male, medicine.medical_specialty, Cytogenetics, Chromosome, Chromosomal translocation, Karyotype, Locus (genetics), Oligospermia, Biology, medicine.disease, Translocation, Genetic, Male infertility, Chromosomes, Human, Pair 1, Chromosome Inversion, medicine, Humans, Genetics (clinical), Infertility, Male, Chromosomal inversion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e7b3a73407cfbd694bd1f4fa97aaa8Test
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oaiTest -
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المؤلفون: Brigitte Bressac-de-Paillerets, Katia Ossian, Anthony Laugé, Nicolas Janin, Dominique Stoppa-Lyonnet, Marianne Debré, Nadine Andrieu, Claude Griscelli, Alain Aurias, Béatrice Geoffroy‐Perez, M. F. Croquette
المصدر: International journal of cancer. 93(2)
مصطلحات موضوعية: Oncology, Male, Cancer Research, medicine.medical_specialty, Heterozygote, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, Loss of heterozygosity, Ataxia Telangiectasia, Breast cancer, Risk Factors, Internal medicine, Chromosome Segregation, Neoplasms, medicine, Humans, Genetic Predisposition to Disease, Risk factor, Child, Thyroid cancer, business.industry, Tumor Suppressor Proteins, Cancer, medicine.disease, DNA-Binding Proteins, Endocrinology, Haplotypes, Relative risk, Child, Preschool, Ataxia-telangiectasia, Female, France, Liver cancer, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8f52c5ee6b18a860a7db67cdea6ce4Test
https://pubmed.ncbi.nlm.nih.gov/11410879Test -
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المؤلفون: S, Saccone, C, Federico, I, Solovei, M F, Croquette, G, Della Valle, G, Bernardi
المصدر: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 7(5)
مصطلحات موضوعية: Base Composition, Genome, Human, Chromosomes, Human, Humans, Fluorescein, In Situ Hybridization, Fluorescence, Metaphase, Chromosome Banding, Fluorescent Dyes, GC Rich Sequence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::951f16be3ea35f6db29d0493ebabddb3Test
https://pubmed.ncbi.nlm.nih.gov/10515213Test -
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المؤلفون: G M, Brevière, M F, Croquette, B, Delobel, P, Pellerin, C, Rey
المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 6
مصطلحات موضوعية: Craniofacial Abnormalities, Heart Defects, Congenital, Hypocalcemia, Scoliosis, Chromosomes, Human, Pair 22, Intellectual Disability, DiGeorge Syndrome, Chromosome Mapping, Humans, Thymus Gland, Chromosome Deletion, Child, Psychomotor Performance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9a2a34385b8f7e7ae662d657e579f33dTest
https://pubmed.ncbi.nlm.nih.gov/10370516Test -
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المؤلفون: Nicolas Janin, Marianne Debré, Nadine Andrieu, Claude Griscelli, Katia Ossian, Dominique Stoppa-Lyonnet, Brigitte Bressac-de-Paillerets, Anthony Laugé, Alain Aurias, M. F. Croquette
المصدر: British Journal of Cancer
مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Heterozygote, Adolescent, Physiology, Breast Neoplasms, Risk Assessment, Breast Neoplasms, Male, Loss of heterozygosity, Ataxia Telangiectasia, breast cancer risk, Breast cancer, Epidemiology, Medicine, Humans, family study, Risk factor, Child, Aged, Aged, 80 and over, business.industry, Genetic Carrier Screening, Haplotype, Regular Article, Middle Aged, medicine.disease, Oncology, Haplotypes, Relative risk, Child, Preschool, Immunology, Ataxia-telangiectasia, Female, France, business, Risk assessment, ataxia telangiectasia heterozygosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b312f40f16e8fc167d1d0776b39bd920Test
https://pubmed.ncbi.nlm.nih.gov/10362113Test