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1Academic Journal
المؤلفون: Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
المصدر: PLoS ONE, Vol 13, Iss 10, p e0205826 (2018)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Isabelle Jéru, Hasmik Hayrapetyan, Philippe Duquesnoy, Emmanuelle Cochet, Jean-Louis Serre, Josué Feingold, Gilles Grateau, Tamara Sarkisian, Marc Jeanpierre, Serge Amselem
المصدر: PLoS ONE, Vol 4, Iss 10, p e7676 (2009)
وصف الملف: electronic resource
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3
المؤلفون: Olivier Alibeu, Cécile Jeanpierre, Marc Jeanpierre, Cécile Fourrage, Valérie Malan, Charline Henry, Robert Novo, Frédéric Tores, Vincent Morinière, Madeline Louise Reilly, Marc Bras, Sophie Saunier, Rémi Salomon, Corinne Antignac, Camille Humbert, Lara De Tomasi, Patrick Nitschke, Dominique Gaillard, Laurence Heidet, Marie Gonzales, Christine Pietrement, Jelena Martinovic, Joelle Roume, Christine Bole-Feysot, Elise Schaefer
المصدر: Journal of the American Society of Nephrology. 28:2901-2914
مصطلحات موضوعية: 0301 basic medicine, Genetics, Candidate gene, Genetic heterogeneity, Kidney development, General Medicine, Disease, Biology, 03 medical and health sciences, 030104 developmental biology, Nephrology, Cancer research, Epigenetics, Gene, Loss function, Exome sequencing
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4
المؤلفون: Marc Jeanpierre, Anthony Behin, Richard J.L.F. Lemmers, Tanya Stojkovic, Françoise Bouhour, Audrey Briand-Suleau, Pilvi Nigumann, Françoise Chapon, Christophe Vial, Angela Puma, Sophie Rondeau, Pascal Laforêt, Marilyn Gros, Bruno Eymard, Nadira Lagha, Bras Marc, Elena Pegoraro, Silvère M. van der Maarel, Andoni Echaniz-Laguna, Michelangelo Cao, Philippe Petiot, Sabrina Sacconi, C. Cambieri, Gaël Cristofari, Christian Baudoin, Leonardo Salviati
المساهمون: Centre Hospitalier Universitaire de Nice (CHU Nice), 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), Aix-Marseille Université - École de médecine (AMU SMPM MED), Aix-Marseille Université - Faculté des sciences médicales et paramédicales (AMU SMPM), Aix Marseille Université (AMU)-Aix Marseille Université (AMU), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Leiden University Medical Center (LUMC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Nuffield Department of Clinical Neurosciences [Oxford], University of Oxford [Oxford], Universita degli Studi di Padova, Hospices Civils de Lyon, Departement de Neurologie (HCL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Polyclinique Saint Privat, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), University of Padova Medical School, Université Paris Descartes - Paris 5 (UPD5), Center for Human and Clinical Genetics, Université Nice Sophia Antipolis (1965 - 2019) (UNS), Universiteit Leiden, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), University of Oxford, Università degli Studi di Padova = University of Padua (Unipd), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universiteit Leiden-Universiteit Leiden, CHU Nice, Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pascal - Clermont Auvergne (IP), Sigma CLERMONT (Sigma CLERMONT)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique, Service de neurologie, Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Dpt. of Pediatrics, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: Neurology
Neurology, American Academy of Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 92(19), E2273-E2285. LIPPINCOTT WILLIAMS & WILKINSمصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Facioscapulohumeral, Chromosomal Proteins, Non-Histone, [SDV]Life Sciences [q-bio], [SHS.PSY]Humanities and Social Sciences/Psychology, Disease, Severity of Illness Index, 0302 clinical medicine, Facioscapulohumeral muscular dystrophy, Muscular Dystrophy, Muscular dystrophy, ComputingMilieux_MISCELLANEOUS, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, FSHD1, Chromosomal Proteins, Phenotype, DNA methylation, Female, Cohort study, Adult, musculoskeletal diseases, medicine.medical_specialty, genetic and epigenetic characteristics, FSHD2, 03 medical and health sciences, Internal medicine, Severity of illness, medicine, Humans, Muscle Strength, Allele, Alleles, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Haplotype, Non-Histone, DNA Methylation, medicine.disease, 030104 developmental biology, FSHD1, FSHD2, Haplotypes, Mutation, Neurology (clinical), business, 030217 neurology & neurosurgery
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5
المؤلفون: Marc Jeanpierre, Jacques Young, Ana Paula Abreu, Magdalena Avbelj Stefanija, Ravikumar Balasubramanian, Svetlana Ten, Nelly Pitteloud, Albert Schinzel, Lacey Plummer, Margaret G. Au, Radhika Purushothaman, Ana Claudia Latronico, Andrew A. Dwyer, Elka Jacobson-Dickman, Gerasimos P. Sykiotis, Jose C. Florez, Richard Quinton, Michel Pugeat, Simon H. S. Pearce, James F. Gusella, Catherine Dodé, Tim Cheetham, William F. Crowley
المساهمون: University of Zurich, Pitteloud, Nelly
المصدر: Human Molecular Genetics, vol. 21, no. 19, pp. 4314-4324
مصطلحات موضوعية: Male, 2716 Genetics (clinical), Receptors, Peptide, 10039 Institute of Medical Genetics, Population, Mutation, Missense, 610 Medicine & health, Locus (genetics), Gonadotropin-releasing hormone, Biology, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Evolution, Molecular, Gonadotropin-Releasing Hormone, 1311 Genetics, 1312 Molecular Biology, Genetics, Humans, Allele, education, Molecular Biology, Genetics (clinical), education.field_of_study, Reproduction, Racial Groups, Haplotype, Articles, General Medicine, Penetrance, Founder Effect, Pedigree, Haplotypes, 570 Life sciences, biology, Female, Allelic heterogeneity, Founder effect
وصف الملف: Avbeli_M_et_al,_An_ancient_founder.pdf - application/pdf; Avbeli.pdf - application/pdf; application/pdf
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6
المؤلفون: Marc Jeanpierre, Julie Sarfati, Jean-Pierre Hardelin, Corinne Fouveaut, Catherine Dodé, Chrystel Leroy
المصدر: European Journal of Endocrinology. 169:805-809
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Fibroblast Growth Factor 8, Receptors, Peptide, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Genetic counseling, Population, Nerve Tissue Proteins, Context (language use), medicine.disease_cause, White People, Receptors, G-Protein-Coupled, Gastrointestinal Hormones, Endocrinology, Africa, Northern, Gene Frequency, Hypogonadotropic hypogonadism, Internal medicine, Prevalence, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, education, Aged, Extracellular Matrix Proteins, Mutation, education.field_of_study, Genetic heterogeneity, business.industry, Neuropeptides, Exons, Kallmann Syndrome, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Introns, Arabs, Europe, Exact test, Female, business
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7
المؤلفون: Laurence, Heidet, Vincent, Morinière, Charline, Henry, Lara, De Tomasi, Madeline Louise, Reilly, Camille, Humbert, Olivier, Alibeu, Cécile, Fourrage, Christine, Bole-Feysot, Patrick, Nitschké, Frédéric, Tores, Marc, Bras, Marc, Jeanpierre, Christine, Pietrement, Dominique, Gaillard, Marie, Gonzales, Robert, Novo, Elise, Schaefer, Joëlle, Roume, Jelena, Martinovic, Valérie, Malan, Rémi, Salomon, Sophie, Saunier, Corinne, Antignac, Cécile, Jeanpierre
المصدر: Journal of the American Society of Nephrology : JASN. 28(10)
مصطلحات موضوعية: Cohort Studies, DNA-Binding Proteins, Male, Basic Research, Proto-Oncogene Proteins, Urogenital Abnormalities, DNA Mutational Analysis, Pre-B-Cell Leukemia Transcription Factor 1, Humans, Exome, Female
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8
المؤلفون: Bruno Francou, Jacques Young, Stephanie Gaillez, Jérôme Bouligand, Marc Jeanpierre, Michael Grynberg, Sylvie Brailly-Tabard, Philippe Chanson, Marie Laure Raffin-Sanson, Anne Guiochon-Mantel, Peter Kamenicky
المصدر: The Journal of Clinical Endocrinology & Metabolism. 95:2287-2295
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurokinin B, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Context (language use), Biology, medicine.disease_cause, Biochemistry, Consanguinity, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, Missense mutation, Testosterone, Breast, Amenorrhea, Genetics, Mutation, Hypogonadism, Homozygote, Biochemistry (medical), Haplotype, Intron, Receptors, Neurokinin-3, Luteinizing Hormone, medicine.disease, Introns, Pedigree, Amino Acid Substitution, RNA splicing, Female, Congenital Hypogonadotropic Hypogonadism, Follicle Stimulating Hormone, Gene Deletion, Penis
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9
المؤلفون: Carlo M. Vincitorio, Marc Jeanpierre, Tanya Stojkovic, Pascal Laforêt, Carmen Navarro, Susana Teijeira, Aleksandra Nadaj-Pakleza, Elisabeth Dion, Irene Vietez, Bruno Eymard
المصدر: Muscle & Nerve. 40:350-357
مصطلحات موضوعية: medicine.medical_specialty, Weakness, Proximal muscle weakness, Muscle biopsy, medicine.diagnostic_test, Physiology, business.industry, Muscle weakness, Dystrophy, Surgery, Cellular and Molecular Neuroscience, Physiology (medical), Internal medicine, Myology, Biopsy, medicine, Neurology (clinical), medicine.symptom, business, Wasting
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10
المؤلفون: Marc Jeanpierre, David Benezra, Rivka Carmi, Josseline Kaplan, Stavit A. Shalev, Jean-Michel Rozet, Isabelle Perrault, Sylvain Hanein, Jean-Louis Dufier, Sylvie Gerber, Josué Feingold, Nathalie Delphin, Arnold Munnich
المصدر: European Journal of Human Genetics. 16:115-123
مصطلحات موضوعية: Male, Time Factors, media_common.quotation_subject, Population, Bayesian probability, Receptors, Cell Surface, Probability density function, Optic Atrophy, Hereditary, Leber, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Africa, Northern, Genetics, Humans, education, Genetics (clinical), DNA Primers, Sequence Deletion, media_common, education.field_of_study, Models, Statistical, Variables, Models, Genetic, Portugal, Haplotype, Bayes Theorem, Founder Effect, Complete linkage, Genetics, Population, Haplotypes, Guanylate Cyclase, Mutation, Female, Algebraic function, France, Algorithm, Founder effect
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11
المؤلفون: Marc Jeanpierre, Rebecca Gooding, Velina Guergueltcheva, Viswanathan Venkataraman, Carolin Schmidt, David Beeson, Angela Abicht, Dora Angelicheva, Ivailo Tournev, Jeff Reeve, Hanns Lochmüller, Bharti Morar, Attila Tordai, David Gresham, Veronika Karcagi, Luba Kalaydjieva, Melinda Nagy, Lajos Kalmar, Vaidutis Kučinskas, Agnes Herczegfalvi, Kim W. Carter, Rosario de Pablo
المصدر: The American Journal of Human Genetics. 75:596-609
مصطلحات موضوعية: Linkage disequilibrium, Roma, Genotype, Demographic history, DNA Mutational Analysis, Population, Biology, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetic variation, Genetics, Cluster Analysis, Humans, Genetics(clinical), Genetic Predisposition to Disease, education, Allele frequency, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Haplotype, Chromosome Mapping, Genetic Variation, Articles, Emigration and Immigration, Founder Effect, Europe, Genetics, Population, Haplotypes, Evolutionary biology, Endogamy, Mutation, 030217 neurology & neurosurgery, Founder effect
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12
المؤلفون: Marc Jeanpierre, Michèle Mayer, Bruno Leheup, Isabelle Desguerre, Jocelyne Kaplan, Dominique Bonneau, Thierry Billette de Villemeur, A. Barois, Anne Touzery-de Villepin, Mohammed Zarhrate, Brigitte Estournet-Mathiaut, Veronica Cusin, Isabelle Maystadt, Brigitte Chabrol, Anne Delaubier, Joshué Feingold, Arnold Munnich, Louis Viollet, Pascale Saugier-Veber
المصدر: European Journal of Human Genetics. 12:483-488
مصطلحات موضوعية: Genetic Markers, Male, Candidate gene, Linkage disequilibrium, Genes, Recessive, Locus (genetics), Biology, Linkage Disequilibrium, Muscular Atrophy, Spinal, Gene mapping, Genetic linkage, Genetics, Humans, Family, Allele, Genetics (clinical), Recombination, Genetic, Chromosomes, Human, Pair 11, Chromosome Mapping, Chromosome, Founder Effect, Pedigree, Europe, Genetic marker, Chronic Disease, Female, Microsatellite Repeats
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13
المؤلفون: Arnaud Biraben, Marc Jeanpierre, Bruno Moulard, Alain Malafosse, Françoise Darcel, Pierre Genton, Jacqueline Yaouanq, Didier Mignard, Catherine Buresi, Agathe Roubertie, François Cartault
المصدر: Epilepsia. 44:1357-1360
مصطلحات موضوعية: Genetics, Linkage disequilibrium, Haplotype, Progressive myoclonus epilepsy, Biology, medicine.disease, Genetic determinism, Unverricht–Lundborg disease, Neurology, medicine, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, Myoclonus, Founder effect
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14
المؤلفون: Yuzhou Zhang, Marc Jeanpierre, Julien Forner, Sylvie Fournet
المصدر: Annales de Génétique. 44:105-110
مصطلحات موضوعية: DNA Mutational Analysis, Population, EcoRI, Locus (genetics), Sensitivity and Specificity, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Allele, education, Alleles, education.field_of_study, Polymorphism, Genetic, biology, Telomere, Subtelomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Electrophoresis, Gel, Pulsed-Field, EcoRV, Chromosome 4, Databases as Topic, Tandem Repeat Sequences, Mutation, biology.protein, Chromosomes, Human, Pair 4
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15
المؤلفون: A Levi-Gomes, T. Voit, Jean-Michel Vallat, Dominique Bonneau, Luba Kalaydjieva, A Urtizberea, J Brasa, A. Barois, Marc Jeanpierre, Laura Jarre, Annick Toutain, Ivailo Tournev, J M Warter, Josseline Kaplan, P Gallano, Bernard Echenne, Luciano Merlini, F. Leturcq, C. Navarro
المصدر: Neurology. 54:1075-1079
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Roma, Adolescent, Cardiomyopathy, Limb girdle, Scoliosis, Muscular Dystrophies, Internal medicine, medicine, Macroglossia, Humans, Age of Onset, Muscular dystrophy, Child, Membrane Glycoproteins, business.industry, Muscles, medicine.disease, Surgery, Cytoskeletal Proteins, Sarcoglycan, Phenotype, Child, Preschool, Mutation, Cardiology, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Limb-girdle muscular dystrophy
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16
المؤلفون: Marc Jeanpierre, María José Cubillas Rodríguez, Jean Kaplan, Jon Andoni Urtizberea, Montserrat Baiget, Carles de Diego, Pia Gallano, Adriana Lasa, F. Piccolo, Jaume Colomer
المصدر: European Journal of Human Genetics. 6:396-399
مصطلحات موضوعية: Male, Roma, Population, Mutation, Missense, Biology, Muscular Dystrophies, Consanguinity, Sarcoglycans, Genetics, medicine, Humans, Missense mutation, Muscular dystrophy, Allele, education, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Transition (genetics), Homozygote, Extremities, medicine.disease, Founder Effect, Pedigree, Cytoskeletal Proteins, Sarcoglycan, Genetics, Population, Phenotype, Mutation (genetic algorithm), Female, Limb-girdle muscular dystrophy
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17
المؤلفون: Marc Jeanpierre, Déborah Bourc'his, Pierre Miniou, E. Viegas-Péquignot, Véronique Blanquet, Ana Carolina Coutinho Barbosa
المصدر: Human Genetics. 99:738-745
مصطلحات موضوعية: Adult, Male, Adolescent, Heterochromatin, Somatic cell, Centromere, DNA, Satellite, Biology, Fetus, Leukocytes, Genetics, Chromosomes, Human, Humans, Constitutive heterochromatin, Child, Genetics (clinical), Genomic organization, Immunologic Deficiency Syndromes, Chromosome, Syndrome, Methylation, DNA Methylation, Fibroblasts, Molecular biology, Differentially methylated regions, Child, Preschool, Face, DNA methylation, Female
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18
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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19
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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20
المؤلفون: Bernd Wissinger, Renate C. Zekveld-Vroon, Alejandro Estrada-Cuzcano, Sandro Banfi, Jean-Michel Rozet, Ditta Zobor, Esther Pomares, Isabelle Perrault, Huanan Ren, Shiqiang Li, Susanne Kohl, Frans P.M. Cremers, André Mégarbané, Anneke I. den Hollander, Ralph J. Florijn, Rui Chen, Marc Jeanpierre, Irma Lopez, Francesco Testa, Nisrine Aboussair, Roser Gonzàlez-Duarte, Blanca C. Flores, Corinne Leowski, Francesca Simonelli, Edwin M. Stone, Josseline Kaplan, Qingjiong Zhang, Catherine Edelson, Arthur A.B. Bergen, Jean Andorf, Arnold Munnich, Cristina Villanueva, Nathalie Delphin, Robert K. Koenekoop, Xia Wang
المساهمون: Universitat de Barcelona, Perrault, I, Estrada Cuzcano, A, Lopez, I, Kohl, S, Li, S, Testa, Francesco, Zekveld Vroon, R, Wang, X, Pomares, E, Andorf, J, Aboussair, N, Banfi, Sandro, Delphin, N, den Hollander, Ai, Edelson, C, Florijn, R, Jean Pierre, M, Leowski, C, Megarbane, A, Villanueva, C, Flores, B, Munnich, A, Ren, H, Zobor, D, Bergen, A, Chen, R, Cremers, Fp, Gonzalez Duarte, R, Koenekoop, Rk, Simonelli, Francesca, Stone, E, Wissinger, B, Zhang, Q, Kaplan, J, Rozet, Jm, Human Genetics, ANS - Amsterdam Neuroscience, ARD - Amsterdam Reproduction and Development
المصدر: PLoS One, 8, 1
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS One
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
PLoS One, 8
PLoS ONE, 8(1). Public Library of Science
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
PLoS ONE, Vol 8, Iss 1, p e51622 (2013)مصطلحات موضوعية: Male, Retinal degeneration, Photoreceptors, Genetic Screens, genetic structures, Genetics and epigenetic pathways of disease [NCMLS 6], Leber Congenital Amaurosis, lcsh:Medicine, Social and Behavioral Sciences, medicine.disease_cause, Linkage Disequilibrium, Fotoreceptors, Cohort Studies, 0302 clinical medicine, Sociology, Human Families, lcsh:Science, Child, Genetics, 0303 health sciences, Mutation, Multidisciplinary, Retinal Degeneration, Pedigree, 3. Good health, Europe, Phenotype, Child, Preschool, Medicine, Retinal Disorders, GUCY2D, Female, Research Article, Adult, Canada, China, Adolescent, Nonsense mutation, Genetic Counseling, Biology, Retina, Frameshift mutation, Young Adult, 03 medical and health sciences, Genetic Mutation, medicine, Humans, Allele, Eye Proteins, 030304 developmental biology, Polymorphism, Genetic, lcsh:R, Mutació (Biologia), Infant, Human Genetics, Heterozygote advantage, Mutation (Biology), medicine.disease, United States, eye diseases, Ophthalmology, Genetics of Disease, Genetic Polymorphism, Pediatric Ophthalmology, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Population Genetics, Founder effect
وصف الملف: application/pdf
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