المؤلفون: Blin-Wakkach, Claudine, Wakkach, Abdelilah, Quincey, Danielle, Carle, Georges F

المساهمون: Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS), Génétique et signalisation moléculaire (GSM), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre Hospitalier Universitaire de Nice (CHU Nice)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0301-472X ; Experimental Hematology ; https://inserm.hal.science/inserm-00104152 ; Experimental Hematology, 2006, 34 (7), pp.851-9. ⟨10.1016/j.exphem.2006.04.003⟩.

مصطلحات موضوعية: MESH: Animals, MESH: Antigens, CD11b, MESH: Mice, Inbred C3H, Inbred C57BL, MESH: Osteopetrosis, MESH: Research Support, Non-U.S. Gov't, MESH: Reverse Transcriptase Polymerase, CD45, MESH: B-Lymphocytes, MESH: Base Sequence, MESH: Cell Lineage, MESH: DNA Primers, MESH: Flow Cytometry, MESH: Interleukin-7, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/16797412; PUBMED: 16797412

الاتاحة: https://inserm.hal.science/inserm-00104152
https://doi.org/10.1016/j.exphem.2006.04.003

المؤلفون: Scimeca, Jean-Claude, Quincey, Danielle, Parrinello, Hugues, Romatet, Delphine, Grosgeorge, Josiane, Gaudray, Patrick, Philip, Nicole, Fischer, Alain, Carle, Georges, F.

المساهمون: Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: MESH: Chromosomes, Human, Pair 11, MESH: Female, MESH: Protein Subunits, MESH: Vacuolar Proton-Translocating ATPases, MESH: Genes, Recessive, MESH: Genetic Markers, MESH: Genotype, MESH: Haplotypes, MESH: Humans, MESH: Infant, Newborn, Diseases, MESH: Male, MESH: Mutation, MESH: Organ Specificity, MESH: Osteoclasts, MESH: Osteopetrosis, MESH: Pedigree, MESH: Prenatal Diagnosis, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], [SDV.CAN]Life Sciences [q-bio]/Cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/12552563; hal-02109571; https://hal.science/hal-02109571; PUBMED: 12552563

الاتاحة: https://hal.science/hal-02109571
https://doi.org/10.1002/humu.10165

المؤلفون: Jean-Claude Scimeca, Georges F. Carle, Delphine Romatet, Danielle Quincey, J. Grosgeorge, Hugues Parrinello, Patrick Gaudray, Alain Fischer, Nicole Philip

المساهمون: Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Institut de Biologie Valrose (IBV), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Institut de Génomique Fonctionnelle - Montpellier GenomiX (IGF MGX), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Institut de signalisation, biologie du développement et cancer (ISBDC), Génétique, immunothérapie, chimie et cancer (GICC), UMR 6239 CNRS [2008-2011] (GICC UMR 6239 CNRS), Université de Tours-Centre National de la Recherche Scientifique (CNRS), Service de Génétique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Human Mutation
Human Mutation, Wiley, 2003, 21 (2), pp.151-157. ⟨10.1002/humu.10165⟩

مصطلحات موضوعية: Male, Osteoclasts, MESH: Genetic Markers, Infant, Newborn, Diseases, MESH: Genotype, 0302 clinical medicine, Prenatal Diagnosis, MESH: Osteoclasts, Genotype, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Missense mutation, Genetics (clinical), MESH: Organ Specificity, Genetics, 0303 health sciences, MESH: Infant, Newborn, MESH: Protein Subunits, MESH: Infant, Pedigree, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Organ Specificity, Osteopetrosis, 030220 oncology & carcinogenesis, Female, MESH: Osteopetrosis, Genetic Markers, Vacuolar Proton-Translocating ATPases, MESH: Mutation, MESH: Pedigree, Protein subunit, MESH: Vacuolar Proton-Translocating ATPases, Genes, Recessive, MESH: Infant, Newborn, Diseases, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, TCIRG1, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, V-ATPase, splice, MESH: Prenatal Diagnosis, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], [SDV.IB.BIO]Life Sciences [q-bio]/Bioengineering/Biomaterials, MESH: Genes, Recessive, 030304 developmental biology, MESH: Humans, Chromosomes, Human, Pair 11, Infant, Newborn, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Haplotypes, medicine.disease, MESH: Male, Protein Subunits, Haplotypes, Mutation, MESH: Chromosomes, Human, Pair 11, MESH: Female, Infantile malignant osteopetrosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d8e034a6c7c7690bb297cc956780f5
https://hal.archives-ouvertes.fr/hal-02109571

المؤلفون: Bernard, Frédéric, A., Casanova, Jean-Laurent, Cournot, Guilia, Jabado, Nada, Peake, Jane, Jauliac, Sebastien, Fischer, Alain, Hivroz, Claire

المساهمون: Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: J Pediatr ; https://inserm.hal.science/inserm-00076825 ; J Pediatr, 1998, 133, pp.537-43

مصطلحات موضوعية: MESH: Antibodies, Monoclonal, MESH: Chromosome Aberrations, MESH: Osteopetrosis, MESH: Polymerase Chain Reaction, MESH: Protein-Tyrosine Kinase, MESH: Research Support, MESH: Chromosome Disorders, MESH: Consanguinity, MESH: DNA, Viral, MESH: Gene Amplification, MESH: Herpesvirus 4, Human, MESH: Humans, MESH: Infant, Newborn, [SDV.CAN]Life Sciences [q-bio]/Cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/9787694; inserm-00076825; https://inserm.hal.science/inserm-00076825; PUBMED: 9787694

الاتاحة: https://inserm.hal.science/inserm-00076825

المؤلفون: Fathallah, D., M., Bejaoui, Mohamed, Lepaslier, Denis, Chater, Khelifa, Sly, William, S., Dellagi, Koussay

المساهمون: Laboratoire d'Immunologie, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur), Hôpital Charles Nicolle Tunis, Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Université de Tunis, Saint Louis University (SLU), This work was supported by a grant from the Tunisian State Secretariat for Scientific Research and Technology., We are grateful to the members of the families for their kind collaboration in the study. We thank Dr. H. Louzir for his help with the art work

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: MESH: Acidosis, Renal Tubular/genetics, MESH: Alleles, MESH: Introns, MESH: Isoenzymes/deficiency, MESH: Isoenzymes/genetics, MESH: Male, MESH: Osteopetrosis/genetics, MESH: Pedigree, MESH: RNA Splicing, MESH: Recombination, Genetic, MESH: Saudi Arabia/ethnology, MESH: Sequence Tagged Sites, MESH: Carbonic Anhydrases/deficiency, MESH: Tunisia, MESH: Carbonic Anhydrases/genetics, MESH: DNA Mutational Analysis, MESH: Exons, MESH: Female, MESH: Genotype, MESH: Humans, MESH: Intellectual Disability/genetics, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/9150731; PUBMED: 9150731

الاتاحة: https://riip.hal.science/pasteur-02042353
https://doi.org/10.1007/s004390050419

المؤلفون: Sébastien Jauliac, Jane Peake, Alain Fischer, Jean-Laurent Casanova, Giulia Cournot, Claire Hivroz, Frédéric Bernard, Nada Jabado

المساهمون: Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Jauliac, Sebastien, Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)

المصدر: J Pediatr
J Pediatr, 1998, 133, pp.537-43

مصطلحات موضوعية: Herpesvirus 4, Human, [SDV.CAN]Life Sciences [q-bio]/Cancer, Chromosome Disorders, Biology, medicine.disease_cause, MESH: Gene Amplification, Polymerase Chain Reaction, MESH: Antibodies, Monoclonal, Pathogenesis, chemistry.chemical_compound, Consanguinity, [SDV.CAN] Life Sciences [q-bio]/Cancer, medicine, MESH: Chromosome Aberrations, Humans, MESH: Research Support, Kinase activity, Gene, Retrospective Studies, MESH: Consanguinity, Genetics, Chromosome Aberrations, MESH: Chromosome Disorders, Mutation, MESH: Humans, MESH: Infant, Newborn, Gene Amplification, Infant, Newborn, Antibodies, Monoclonal, Infant, MESH: Polymerase Chain Reaction, MESH: Herpesvirus 4, Human, Osteopetrosis, Tyrosine phosphorylation, Protein-Tyrosine Kinases, medicine.disease, MESH: Infant, MESH: DNA, Viral, MESH: Protein-Tyrosine Kinase, chemistry, Pediatrics, Perinatology and Child Health, DNA, Viral, Cancer research, MESH: Osteopetrosis, Tyrosine kinase, Proto-oncogene tyrosine-protein kinase Src

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c293fbc4b11b02dee94c28ecf62d9013
https://pubmed.ncbi.nlm.nih.gov/9787694

المؤلفون: Dahmani M. Fathallah, William S. Sly, Denis Lepaslier, Koussay Dellagi, Mohamed Bejaoui, Khelifa Chater

المساهمون: Laboratoire d'Immunologie, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Charles Nicolle [Tunis], Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Université de Tunis [Tunis], Saint Louis University (SLU), This work was supported by a grant from the Tunisian State Secretariat for Scientific Research and Technology., We are grateful to the members of the families for their kind collaboration in the study. We thank Dr. H. Louzir for his help with the art work, Fondation Jean Dausset-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7), Université de Tunis

المصدر: Human Genetics
Human Genetics, Springer Verlag, 1997, 99 (5), pp.634-637. ⟨10.1007/s004390050419⟩

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, 030232 urology & nephrology, MESH: Isoenzymes/genetics, MESH: Genotype, chemistry.chemical_compound, Exon, MESH: Carbonic Anhydrases/genetics, 0302 clinical medicine, MESH: Saudi Arabia/ethnology, MESH: DNA Mutational Analysis, Genetics (clinical), Carbonic Anhydrases, Sequence Tagged Sites, Recombination, Genetic, Genetics, 0303 health sciences, education.field_of_study, MESH: Recombination, Genetic, Acidosis, Renal Tubular, Exons, Pedigree, 3. Good health, Isoenzymes, Osteopetrosis, Female, MESH: Tunisia, MESH: Intellectual Disability/genetics, Tunisia, MESH: Acidosis, Renal Tubular/genetics, Genotype, TaqI, MESH: Pedigree, RNA Splicing, Carbonic anhydrase II, Population, Saudi Arabia, Locus (genetics), Biology, 03 medical and health sciences, Intellectual Disability, MESH: Sequence Tagged Sites, Humans, Gene conversion, Allele, education, Alleles, 030304 developmental biology, MESH: Humans, MESH: Alleles, Introns, MESH: Male, MESH: Isoenzymes/deficiency, chemistry, MESH: Osteopetrosis/genetics, MESH: Carbonic Anhydrases/deficiency, MESH: RNA Splicing, MESH: Exons, MESH: Female, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92f41f4c04b9a4908c7c3afd593e584
https://hal-riip.archives-ouvertes.fr/pasteur-02042353

المؤلفون: Fathallah, D. M., Bejaoui, M., Sly, W. S., Lakhoua, R., Dellagi, Koussay

المساهمون: Institut Pasteur de Tunis, Pasteur Network (Réseau International des Instituts Pasteur), Department of Genetics and Molecular Biology, Saint Louis University

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: MESH: Acidosis, Renal Tubular, MESH: Base Sequence, MESH: Molecular Sequence Data, MESH: Osteopetrosis, MESH: Point Mutation, MESH: Polymerase Chain Reaction, MESH: Restriction Mapping, MESH: Syndrome, MESH: Tunisia, MESH: Carbonic Anhydrases, MESH: DNA Mutational Analysis, MESH: Ethnic Groups, MESH: Female, MESH: Homozygote, MESH: Humans, MESH: Intellectual Disability, MESH: Male

Relation: info:eu-repo/semantics/altIdentifier/pmid/7959703; PUBMED: 7959703

الاتاحة: https://riip.hal.science/pasteur-00658043
https://doi.org/10.1007/BF00211035