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1Academic Journal
المؤلفون: Eur Respir J, Cystic Fibrosis I. Fajac, D. Hubert, T. Bienvenu, B. Richaud-thiriez, R. Matran, J-c. Kaplan, Correspondence I. Fajac
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: Cystic fibrosis
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.324.179; http://erj.ersjournals.com/content/12/6/1295.full.pdf
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2Academic Journal
المؤلفون: F. Piccolo, M. Jeanpierre, F. Leturcq, C. Dodé, K. Azibi, A. Toutain, L. Merlini, L. Jarre, C. Navarro, R. Krishnamoorthy, F. M. S. Tomé, J. A. Urtizberea, J. S. Beckmann, K. P. Campbell, J. -c. Kaplan
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.572.8479; http://www.physiology.uiowa.edu/campbell/Publications/PDF/209PiccoloHumMolGenet.pdf
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3
المؤلفون: C. Jeanton-Scaramouche, Carmen Ayuso, Marta Corton, Lucas Fares-Taie, Patricia Ramos, I. Arroyo, Alice Goldenberg, D. Aguilera, Nicolas Chassaing, Jean-Michel Rozet, V. Gaston, Patrick Calvas, Julie Plaisancié, Fiona Blanco-Kelly, H. Dollfus, Christine Francannet, Cristina Villaverde, Maria Tarilonte, J. C. Kaplan
المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], IIS‑Fundación Jiménez Diaz‑Autonoma University [Madrid, Spain], CIBER de Enfermedades Raras (CIBERER), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Department of Genetics, Hospital of Caceres
المصدر: Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩مصطلحات موضوعية: Male, 0301 basic medicine, Untranslated region, PAX6 Transcription Factor, Genome, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Coding region, Child, 3' Untranslated Regions, Aniridia, Genetics (clinical), MESH: Middle Aged, Non-coding mutation, MESH: 3' Untranslated Regions, Middle Aged, Enhancer Elements, Genetic, Child, Preschool, Female, Adult, MESH: Mutation, Adolescent, Locus (genetics), Computational biology, Biology, MESH: Genetic Loci, 03 medical and health sciences, 5′UTR, MESH: Aniridia / genetics, Genetics, medicine, Humans, Minigene assay, MESH: Adolescent, MESH: Humans, MESH: PAX6 Transcription Factor / genetics, Eye development, MESH: Child, Preschool, Cis-regulatory region, MESH: Adult, medicine.disease, Human genetics, eye diseases, MESH: Male, PAX6, 030104 developmental biology, Genetic Loci, Mutation, sense organs, MESH: Enhancer Elements, Genetic, MESH: Female, Minigene
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المؤلفون: H. Dollfus, Gilles Morin, J. C. Kaplan, Christine Francannet, Hélène Colineaux, Nicola K. Ragge, Daphné Lehalle, Nicolas Chassaing, Julie Plaisancié, Patrick Calvas
المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Oxford Brookes University, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Genetics in Ophthalmology (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Génétique Clinique et Oncogénétique, Centre Hospitalier Universitaire d'Amiens Picardie, Amiens, France, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
المصدر: Clinical Genetics
Clinical Genetics, Wiley, 2018, 93 (4), pp.837-845. ⟨10.1111/cge.13177⟩مصطلحات موضوعية: 0301 basic medicine, Male, MESH: Developmental Disabilities / physiopathology, genetic structures, genotype-phenotype correlations, Developmental Disabilities, anophthalmia, Microphthalmia, MESH: Forkhead Transcription Factors / genetics, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Microphthalmos, Eye Abnormalities, MESH: Developmental Disabilities / genetics, Genetics (clinical), Genetics, Forkhead Transcription Factors, MESH: Aphakia / physiopathology, Phenotype, 3. Good health, cataract, Mutation (genetic algorithm), Female, MESH: Mutation, Genetic counseling, MESH: Eye Abnormalities / physiopathology, Biology, MESH: Aphakia / genetics, 03 medical and health sciences, Dysgenesis, MESH: Genetic Predisposition to Disease, medicine, Humans, Genetic Predisposition to Disease, Sclerocornea, Gene, MESH: Microphthalmos / physiopathology, Alleles, Anophthalmia, MESH: Humans, MESH: Alleles, aphakia, MESH: Microphthalmos / genetics, medicine.disease, eye diseases, MESH: Male, 030104 developmental biology, microphthalmia, MESH: Eye Abnormalities / genetics, Mutation, eye development, 030221 ophthalmology & optometry, anterior segment dysgenesis, FOXE3, sense organs, MESH: Female
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: R T D'aquila, D Zhang, A M Caliendo, J J Eron, K M Devore, J C Kaplan, Da Zhang, Angela M. Caliendo, Joseph J. Eron, T Kimberly M. Devore, Joan C. Kaplan, Martin S. Hirsch, Richard
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.616.3580; http://aac.asm.org/content/38/2/282.full.pdf
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المؤلفون: N. Leveziel, J. C. Kaplan, Coscas G, E.H. Souied, Cécile Delcourt, P. Benlian, Gisèle Soubrane, Jennyfer Zerbib, Hélène Dollfus
المصدر: Journal Français d'Ophtalmologie. 32:440-451
مصطلحات موضوعية: Gynecology, Ophthalmology, medicine.medical_specialty, business.industry, medicine, business
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المؤلفون: J C Kaplan, D. Hubert, Daniel Dusser, B Richaud-Thiriez, J Dall'Ava-Santucci, R Matran, Thierry Bienvenu, Isabelle Fajac
المصدر: European Respiratory Journal. 12:1295-1300
مصطلحات موضوعية: Adult, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Vital capacity, Pancreatic disease, Adolescent, Cystic Fibrosis, Vital Capacity, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Gastroenterology, Membrane Potentials, FEV1/FVC ratio, Basal (phylogenetics), Forced Expiratory Volume, Internal medicine, medicine, Humans, Respiratory function, Nose, business.industry, Respiratory disease, Middle Aged, respiratory system, medicine.disease, Nasal Mucosa, Endocrinology, medicine.anatomical_structure, Mutation, Respiratory Mechanics, Female, business
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8
المؤلفون: Evani Viegas-Péquignot, Arnold Munnich, S Gerber, S. Châtelin, Jean-Michel Rozet, Isabelle Perrault, J. C. Kaplan, D. Molina-Gomez, E.H. Souied, P Calvas
المصدر: Europe PubMed Central
مصطلحات موضوعية: Mesothelioma, Glutamate-Cysteine Ligase, Protein subunit, Molecular Sequence Data, Biology, Homology (biology), chemistry.chemical_compound, Gene mapping, Genetics, Humans, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), chemistry.chemical_classification, DNA ligase, Base Sequence, Nucleic acid sequence, Chromosome Mapping, DNA, Neoplasm, Glutathione, Molecular biology, Enzyme, chemistry, Chromosomes, Human, Pair 1, Gene Deletion
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9
المؤلفون: I. Penisson, Marc Jeanpierre, Nathalie Deburgrave, Michel Fardeau, K. Azibi, O. Tanguy, F. Leturcq, Luciano Merlini, Michèle Mayer, Fernando M.S. Tomé, J. C. Kaplan, Kevin P. Campbell, Alain Carrié, Norma B. Romero, Bruno Eymard, F. Piccolo, H. Collin, M. Chaouch, C. Themar-Noel
المصدر: Neurology. 48:1227-1234
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Immunoblotting, Genes, Recessive, Gene mutation, Biology, Muscular Dystrophies, Sarcoglycans, medicine, Humans, Missense mutation, Muscular dystrophy, Child, Myopathy, SGCA, Membrane Glycoproteins, Muscle biopsy, medicine.diagnostic_test, Muscles, medicine.disease, Immunohistochemistry, Cytoskeletal Proteins, Sarcoglycanopathy, Genes, Child, Preschool, Mutation, Disease Progression, Female, Neurology (clinical), medicine.symptom, Sarcoglycanopathies
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المؤلفون: F. Leturcq, Jacques S. Beckmann, Jon Andoni Urtizberea, K. Azibi, Rajagopal Krishnamoorthy, J.-C. Kaplan, Marc Jeanpierre, Luciano Merlini, C. Navarro, Kevin P. Campbell, Fernando M.S. Tomé, Laura Jarre, Annick Toutain, F. Piccolo, Catherine Dodé
المصدر: Human Molecular Genetics. 5:2019-2022
مصطلحات موضوعية: Roma, India, Locus (genetics), Biology, Muscular Dystrophies, Sarcoglycans, Genetics, medicine, Humans, Muscular dystrophy, Allele, Molecular Biology, Gene, Genetics (clinical), Membrane Glycoproteins, Haplotype, General Medicine, medicine.disease, Europe, Cytoskeletal Proteins, Sarcoglycan, Genetics, Population, Biomarkers, Sarcoglycanopathies, Founder effect
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11
المؤلفون: Agnès Camuzat, Hélène Dollfus, Eric H Souied, Sophie Châtelin, Isabelle Perrault, Le Paslier D, Arnold Munnich, Imad Ghazi, Corinne Leowski, J.L. Dufier, J. C. Kaplan, Michèle Bonnemaison, Jean-Michel Rozet, P Calvas, Steven J. Pittler, Jean Frézal, Sylvie Gerber
المصدر: Nature Genetics. 14:461-464
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Molecular Sequence Data, Restriction Mapping, Gene mutation, Biology, Blindness, Retina, Frameshift mutation, Optic Atrophies, Hereditary, Internal medicine, Genetics, medicine, Humans, Missense mutation, Photoreceptor Cells, Frameshift Mutation, Cyclic GMP, CRB1, Genetic heterogeneity, Homozygote, Disease gene identification, medicine.disease, eye diseases, Endocrinology, Guanylate Cyclase, Mutation, GUCY2D, Leber's congenital amaurosis, sense organs, Chromosomes, Human, Pair 17
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12
المؤلفون: Ralf Herrmann, Konrad Oexle, Y. Mizuno, Kevin P. Campbell, Catherine Dodé, F. Leturcq, Ch. Hübner, E. Ozawa, J.-C. Kaplan, Thomas Voit
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Heterozygote, Genetic Linkage, Hearing loss, Hearing Loss, Sensorineural, Locus (genetics), Biology, Compound heterozygosity, Contiguous gene syndrome, Connexins, Muscular Dystrophies, medicine, Humans, Point Mutation, Muscular dystrophy, Child, Alleles, Genetics, Chromosomes, Human, Pair 13, Contig, General Medicine, medicine.disease, Connexin 26, Pediatrics, Perinatology and Child Health, Chromosomal region, Neurology (clinical), medicine.symptom, Gene Deletion, Chromosomes, Human, Pair 17, Limb-girdle muscular dystrophy
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13
المؤلفون: Fabien Crozet, J. C. Kaplan, Stéphane Blanchard, Denis Le Paslier, Daniel Cohen, Jean Weissenbach, Hassan Chaib, Catherine Dodé, Dominique Weil, Christine Petit, Parry Guilford, Jacqueline Levilliers, Fabienne Levi-Acobas
المصدر: Genomics. 29:163-169
مصطلحات موضوعية: Yeast artificial chromosome, Centromere, Molecular Sequence Data, Deafness, Biology, Polymerase Chain Reaction, Connexins, Muscular Dystrophies, Mice, Gene mapping, Tubulin, Genetics, medicine, Animals, Humans, Nonsyndromic deafness, Muscular dystrophy, Child, Chromosomes, Artificial, Yeast, DNA Primers, Gene Library, Sequence Tagged Sites, Chromosome 13, Expressed sequence tag, Polymorphism, Genetic, Base Sequence, Chromosomes, Human, Pair 13, Contig, Chromosome Mapping, medicine.disease, Cochlea, Connexin 26, Limb-girdle muscular dystrophy
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14
المؤلفون: D. Recan, Michel Fardeau, O. Broux, S. Gilgenkrantz, D. Theau, Christophe Philippe, Fernando M.S. Tomé, H. Collin, N. Abbadi, J.‐C. Kaplan, Michèle Chery, H. Gilgenkrantz
المصدر: American Journal of Medical Genetics. 52:198-206
مصطلحات موضوعية: medicine.medical_specialty, Duchenne muscular dystrophy, Molecular Sequence Data, Monozygotic twin, In situ hybridization, Skin fibroblast, Biology, Muscular Dystrophies, X-inactivation, Dystrophin, Dosage Compensation, Genetic, Internal medicine, Diseases in Twins, medicine, Humans, Child, In Situ Hybridization, Genetics (clinical), X chromosome, Sequence Deletion, Genetics, Base Sequence, Twins, Monozygotic, Methylation, medicine.disease, Phenotype, Pedigree, Endocrinology, Gene Expression Regulation, Female
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المؤلفون: Marc Jeanpierre, H. Collin, F. Leturcq, J.-C. Kaplan, Kevin P. Campbell, Fernando M.S. Tomé, K. Matsumura, Michel Fardeau
المصدر: Neuromuscular Disorders. 4:115-120
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Muscular Dystrophies, Dystrophin, Utrophin, medicine, Dystroglycan, Humans, Dystroglycans, Genetics (clinical), Membrane Glycoproteins, Sarcolemma, Staining and Labeling, biology, Chemistry, Muscles, Skeletal muscle, musculoskeletal system, medicine.disease, Immunohistochemistry, Molecular biology, Dystrophin-associated protein, Cytoskeletal Proteins, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), ITGA7
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المؤلفون: F. Daoud, N. Angeard, B. Demerre, I. Martie, R. Benyaou, F. Leturcq, M. Cossee, N. Deburgrave, Y. Saillour, S. Tuffery, A. Urtizberea, A. Toutain, B. Echenne, M. Frischman, M. Mayer, I. Desguerre, B. Estournet, C. Reveillere, null Penisson-Besnier, J. M. Cuisset, J. C. Kaplan, D. Heron, F. Rivier, J. Chelly
المصدر: Human molecular genetics. 18(20)
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, Adolescent, Duchenne muscular dystrophy, Molecular Sequence Data, Gene Expression, Biology, medicine.disease_cause, Bioinformatics, Severity of Illness Index, Cohort Studies, Dystrophin, Exon, Young Adult, Cognition, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Muscular dystrophy, Child, Molecular Biology, Genetics (clinical), Intelligence Tests, Mutation, Base Sequence, General Medicine, medicine.disease, Phenotype, Developmental disorder, Muscular Dystrophy, Duchenne, biology.protein, Female
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17
المؤلفون: Marc Jeanpierre, J. C. Kaplan, Arnold Munnich, Marie-Louise Briard, Anna Pelet, Hubert Journel, H Hentati, J.L. Dufier
المصدر: Journal of Medical Genetics. 28:383-388
مصطلحات موضوعية: Genetic Markers, Male, X Chromosome, Genetic Linkage, Genetic counseling, Retinoschisis, Genetic Counseling, Prenatal diagnosis, Locus (genetics), Biology, Retinal Diseases, Genetic linkage, Genetics, medicine, Humans, Genetics (clinical), X chromosome, Genetic Carrier Screening, Heterozygote advantage, medicine.disease, Pedigree, Genetic marker, Female, Polymorphism, Restriction Fragment Length, Research Article
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18
المؤلفون: Beverly S. Emanuel, J. C. Kaplan
المصدر: Genomics. 9:214-218
مصطلحات موضوعية: Genetics, Computational biology, Biology, Chromosome 22
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19
المؤلفون: S. Chételin, G. Ershova, J. de Gunzburg, Vanessa Nancy, Arnold Munnich, Roland Berger, J. Derré, J. C. Kaplan
المصدر: Cytogenetic and Genome Research. 79:139-141
مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Biology, Homology (biology), chemistry.chemical_compound, Gene mapping, 3',5'-Cyclic-GMP Phosphodiesterases, Retinal Rod Photoreceptor Cells, Complementary DNA, Genetics, Humans, Amino Acid Sequence, Eye Proteins, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), DNA Primers, Genomic organization, Cyclic Nucleotide Phosphodiesterases, Type 6, Base Sequence, Phosphoric Diester Hydrolases, Nucleic acid sequence, Chromosome Mapping, Phosphodiesterase, Retinal, Exons, Molecular biology, Introns, chemistry, Chromosomes, Human, Pair 2
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20
المؤلفون: Luciano Merlini, Dominique Figarella-Branger, M. Goicoechea, J. J. Poza, Cobo Am, Jose Felix Marti-Masso, J.I. Emparanza, Jon Andoni Urtizberea, David Otaegui, Bruno Eymard, M. Urtasun, Juan J. Vílchez, A. López de Munain, Maggie C. Walter, Pilar Camaño, Lorea Blazquez, C. Paisán, Amets Sáenz, Xavier Ferrer, E. Gutierrez-Rivas, F. Leturcq, Carsten G. Bönnemann, J.-C. Kaplan, Hanns Lochmüller
المصدر: Brain : a journal of neurology. 128(Pt 4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Blotting, Western, DNA Mutational Analysis, Mutation, Missense, Muscle Proteins, medicine.disease_cause, Exon, Internal medicine, Medicine, Coding region, Humans, Muscular dystrophy, Age of Onset, Child, Gene, Retrospective Studies, Genetics, Mutation, business.industry, Calpain, Bayes Theorem, Middle Aged, medicine.disease, Isoenzymes, Phenotype, Muscular Dystrophies, Limb-Girdle, Disease Progression, Female, Neurology (clinical), Age of onset, business, Limb-girdle muscular dystrophy