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المؤلفون: Laurence M. Boon, Miikka Vikkula, Mustapha Amyere
المصدر: Brain Arteriovenous Malformations ISBN: 9783319639635
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Venous circulation, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, PTEN HAMARTOMA TUMOR SYNDROME, Medicine, business, 030217 neurology & neurosurgery
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المؤلفون: Asunción Vicente, Christine Léauté-Labrèze, Hannah M Bombei, Eleonore Pairet, Laurence M. Boon, Carle Paul, David G. Brooks, Ilona J. Frieden, Anne M. Turner, Reed E. Pyeritz, Miikka Vikkula, Raphaël Helaers, David J. Amor, Juliette Dupont, Malin Kvarnung, Marcia C. Willing, Mustapha Amyere, Josée Dubois, Annouk Bisdorff, Shoji Watanabe, Denise W. Metry, Philippe Parent, Loreto Martorell, A. Phan, Ashley Wilson, Orli Wargon, John B. Mulliken, Aicha Salhi, Anne Dompmartin, Catherine McCuaig, Francine Blei, Pierre Vabres, Louanne Hudgins, Eulalia Baselga, María Antonia González-Enseñat, Marion Gérard, Isabelle Quéré, Andrea Hanson-Kahn, Maria R. Cordisco, Nicole Revencu, Wendy K. Chung, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Lisa Weibel, Florence Petit
المساهمون: Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Catholique de Louvain = Catholic University of Louvain (UCL)
المصدر: Circulation
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Circulation, American Heart Association, 2017, 136 (11), pp.1037-1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, MAP Kinase Signaling System, Port-Wine Stain, Receptor, EphB4, arteriovenous malformation, P120 GTPase Activating Protein, Genome-wide association study, Biology, Germline, capillary, Arteriovenous Malformations, 03 medical and health sciences, Germline mutation, Physiology (medical), Databases, Genetic, medicine, Humans, Missense mutation, genetics, arteriovenous fistula, Germ-Line Mutation, Loss function, Genetics, vascular endothelial function, venous, p120 GTPase Activating Protein, Arteriovenous malformation, vascular disease, medicine.disease, Capillaries, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Cardiology and Cardiovascular Medicine, linkage, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1251887ddfadee32b56bad98e2b76c1
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12677 -
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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Pierre-Louis Docquier, Anne Dompmartin, Odile Enjolras, Mustapha Amyere, Laurence M. Boon, Vinciane Wouters, Miikka Vikkula, Catherine Godfraind, John B. Mulliken, Ilkka Kaitila
المصدر: Molecular Syndromology. 5:259-267
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Somatic cell, Biology, medicine.disease, medicine.disease_cause, IDH2, Maffucci syndrome, Genetics, medicine, Enchondromatosis, Enchondroma, Original Article, Chondrosarcoma, Ollier disease, Genetics (clinical)
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المؤلفون: Pierre Morsomme, Mustapha Amyere, Valerie Race, Dominique Legrand, W. Annaert, Hudson H. Freeze, Jaak Jaeken, Neil R. M. Buist, Didier Demaegd, Riet Bammens, Emile Van Schaftingen, Els Schollen, Renate Zeevaert, Claire Rosnoblet, David Cheillan, Gert Matthijs, François Foulquier, Miikka Vikkula, Willy Morelle, Nathalie Guffon
المصدر: The American Journal of Human Genetics. 91(1):15-26
مصطلحات موضوعية: Male, Glycosylation, Adolescent, Golgi Apparatus, Dwarfism, Biology, medicine.disease_cause, Antiporters, Article, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, 0302 clinical medicine, Congenital Disorders of Glycosylation, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Child, Cation Transport Proteins, Genetics (clinical), Cells, Cultured, 030304 developmental biology, Skin, chemistry.chemical_classification, 0303 health sciences, Mutation, HEK 293 cells, Infant, Newborn, Infant, Membrane Proteins, Golgi apparatus, Fibroblasts, medicine.disease, Pedigree, Ion homeostasis, chemistry, Child, Preschool, symbols, Female, Glycoprotein, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
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المؤلفون: Miikka Vikkula, Thomas Vogt, Mustapha Amyere, Anette Bygum, Laurence M. Boon, Flemming Brandrup, Joe Hoo
المصدر: Amyere, M, Vogt, T, Hoo, J, Brandrup, F, Bygum, A, Boon, L & Vikkula, M 2011, ' KITLG Mutations Cause Familial Progressive Hyper-and Hypopigmentation ', Journal of Investigative Dermatology, vol. 131, pp. 1234-1239 . https://doi.org/10.1038/jid.2011.29
مصطلحات موضوعية: Adult, Genetic Linkage, Gene Dosage, Loss of Heterozygosity, Locus (genetics), Dermatology, Biochemistry, Dyschromatosis universalis hereditaria, Hyperpigmentation, Genetic linkage, Humans, Medicine, Phosphorylation, Child, Molecular Biology, Pigmentation disorder, Hypopigmentation, Genetics, Legius syndrome, Stem Cell Factor, business.industry, Cell Biology, medicine.disease, Penetrance, Child, Preschool, Mutation, Familial progressive hyperpigmentation, medicine.symptom, business
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المؤلفون: Gaëtane Noël, Mustapha Amyere, Marie-Cécile Nassogne, Pierre J. Courtoy, Elsa Wiame, Jonathan Desmedt, Marie-Françoise Vincent, Jean-Noël Octave, Eugen Boltshauser, Emile Van Schaftingen, Donatienne Tyteca, Nathalie Pierrot, Miikka Vikkula, François Collard
المساهمون: University of Zurich, van Schaftingen, E
المصدر: Biochemical Journal. 425:127-139
مصطلحات موضوعية: 1303 Biochemistry, Molecular Sequence Data, 610 Medicine & health, CHO Cells, Mitochondrion, Biology, Endoplasmic Reticulum, Transfection, medicine.disease_cause, Biochemistry, Catalysis, Cell Line, Substrate Specificity, law.invention, 1307 Cell Biology, Cricetulus, Acetyl Coenzyme A, Acetyltransferases, law, Cricetinae, Databases, Genetic, 1312 Molecular Biology, medicine, Animals, Humans, Molecular Biology, Gene, Cells, Cultured, Neurons, chemistry.chemical_classification, Aspartic Acid, Mutation, Microscopy, Confocal, Base Sequence, Endoplasmic reticulum, Brain, Cell Biology, Molecular biology, Rats, Kinetics, Enzyme, nervous system, chemistry, Membrane protein, 10036 Medical Clinic, Recombinant DNA
وصف الملف: Molecular1.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a87a42c0a267892f586387055c62927
https://doi.org/10.1042/bj20091024 -
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المؤلفون: Mustapha Amyere, Geert Verbeke, Cédric Le Caignec, Evelyne Vanneste, Miikka Vikkula, Yves Moreau, Thomas D'Hooghe, Joris Vermeesch, Peter Konings, Sophie Debrock, Michèle Ampe, Frans Schuit, Cindy Melotte, Thierry Voet, Jean-Pierre Fryns
المصدر: Nature Medicine. 15:577-583
مصطلحات موضوعية: Adult, Blastomeres, Loss of Heterozygosity, Aneuploidy, Fertilization in Vitro, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Loss of heterozygosity, Pregnancy, Chromosomal Instability, Chromosome instability, Cleavage stage, medicine, Humans, Human embryogenesis, In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Genetics, business.industry, Obstetrics and Gynecology, Embryo, General Medicine, Blastomere, Embryo, Mammalian, medicine.disease, Transplantation, Female, business, Chromosome 21, Comparative genomic hybridization
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المؤلفون: Pierre Rustin, Mustapha Amyere, Ilse Gutierrez-Roelens, Yves Horsmans, Frédéric Lecouvet, Miikka Vikkula, Christine Sempoux, Bernard E. Van Beers, MarcHamoir, Jean-François De Plaen, Alexandre Persu
المصدر: Journal of Hypertension. 27:76-82
مصطلحات موضوعية: Genetics, Physiology, Genetic heterogeneity, SDHB, Proto-Oncogene Proteins c-ret, Respiratory chain, Biology, medicine.disease, Magnetic Resonance Imaging, Polymorphism, Single Nucleotide, Paraganglioma, Succinate Dehydrogenase, Pheochromocytoma, Loss of heterozygosity, Von Hippel-Lindau Tumor Suppressor Protein, Mutation, Internal Medicine, medicine, Humans, SDHD, Cardiology and Cardiovascular Medicine, Genomic imprinting
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf66a9613320f39870061e270764368
https://doi.org/10.1097/hjh.0b013e328317a777 -
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المصدر: European Journal of Human Genetics. 14:809-815
مصطلحات موضوعية: Male, Candidate gene, Turkey, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Genome, Consanguinity, Gene duplication, Genetics, Humans, Gene, Genetics (clinical), Adaptor Proteins, Signal Transducing, Body Patterning, Oligonucleotide Array Sequence Analysis, Chromosome 7 (human), PITX2, Kartagener Syndrome, Homozygote, Nucleic Acid Hybridization, Pedigree, Cytoskeletal Proteins, Chromosomes, Human, Pair 1, Female, 5' Untranslated Regions, Chromosomes, Human, Pair 7