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1دورية أكاديمية
المؤلفون: Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N Robinson, Joris R Vermeesch
المصدر: PLoS Genetics, Vol 10, Iss 11, p e1004578 (2014)
وصف الملف: electronic resource
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المؤلفون: Lihadh Al-Gazali, Paul R. Mark, Tommaso Mazza, Sarah Brandenberger, Mala Isrie, Andrea Poretti, Ratna Puri, Hilde Van Esch, Alessia Micalizzi, Damir Musaev, Marta Romani, Philippe Moerman, Bart De Keersmaecker, Ichraf Kraoua, Stefano D'Arrigo, Hülya Kayserili, Susanne Roosing, Rasim Ozgur Rosti, Joseph G. Gleeson, Umut Altunoglu, Trudy McKanna, Enza Maria Valente, Eugen Boltshauser, Joachim Van Keirsbilck
المساهمون: University of Zurich, Valente, Enza Maria, Human genetics
المصدر: Roosing, S, Romani, M, Isrie, M, Rosti, R O, Micalizzi, A, Musaev, D, Mazza, T, Al-gazali, L, Altunoglu, U, Boltshauser, E, D'Arrigo, S, Keersmaecker, B D, Kayserili, H, Brandenberger, S, Kraoua, I, Mark, P R, McKanna, T, Keirsbilck, J V, Moerman, P, Poretti, A, Puri, R, Esch, H V, Gleeson, J G & Valente, E M 2016, ' Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes ', Journal of Medical Genetics, vol. 53, no. 9, pp. 608-615 . https://doi.org/10.1136/jmedgenet-2016-103832
Journal of Medical Genetics, 53, 608-15
Journal of Medical Genetics
Journal of Medical Genetics, 53(9), 608-615. BMJ Publishing Group
Journal of Medical Genetics, 53, 9, pp. 608-15مصطلحات موضوعية: Male, 0301 basic medicine, Cell Cycle Proteins, Bioinformatics, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mutation Rate, Cerebellum, Developmental, Eye Abnormalities, Molecular genetics, Child, Genetics (clinical), Exome sequencing, Encephalocele, Genetics, Developmental Defects, Kidney Diseases, Cystic, Orofaciodigital Syndromes, Phenotype, Pedigree, 3. Good health, Medical genetics, Female, 2716 Genetics (clinical), medicine.medical_specialty, 610 Medicine & health, Biology, Retina, Joubert syndrome, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, Clinical genetics, Meckel syndrome, Genetic Association Studies, Neurosciences, medicine.disease, Ciliopathy, 030104 developmental biology, 10036 Medical Clinic, Mutation, Sequence Alignment
وصف الملف: Print-Electronic; application/pdf; RoosingS_2016.pdf - application/pdf
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المؤلفون: Egbert J.W. Redeker, Annemiek Landlust, Mariet W. Elting, Jo Moss, Yvonne Hilhorst-Hofstee, Juan Pié, Saskia M. J. Hopman, Rieneke Vorstenbosch, Ingrid D. C. van Balkom, Angelo Selicorni, Anne Marie Bisgaard, Sandra Jansen, Chris Oliver, Caroline Michot, Sylvia A. Huisman, Maninder Kaur, Ilaria Parenti, Katta M. Girisha, Zeynep Tümer, Ingrid Bader, Matthew A. Deardorff, Claudine Rieubland, Davor Lessel, Sigrid Piening, Mala Isrie, Denise Horn, Paul A. Mulder, Constanza Cinca, Tara L. Wenger, Cathrine Jespersgaard, Jolanta Wierzba, Karin E. M. Diderich, Phillis Lakeman, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Anthonie J. van Essen, Alice S. Brooks, Raoul C.M. Hennekam, Frank J. Kaiser, Ian D. Krantz, Feliciano J. Ramos, Tjitske Kleefstra, David R. FitzPatrick, Sarah E. Noon, Anna Cereda, Silvia Russo, Dinah Clark, Valérie Cormier-Daire
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Erasmus MC other, Paediatric Genetics, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Oncology, APH - Quality of Care, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Medical Genetics Part A, 173(8), 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cornelia de Lange Syndrome, Cohesin complex, Adolescent, Chromosomal Proteins, Non-Histone, Rett syndrome, Cell Cycle Proteins, Biology, NIPBL, 03 medical and health sciences, Young Adult, SMC1A, De Lange Syndrome, syndrome delineation, medicine, Genetics, Missense mutation, Humans, Exome, Genetics(clinical), Child, 610 Medicine & health, Genetics (clinical), Exome sequencing, Netherlands, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], behavior, Infant, Newborn, Infant, Proteins, self-injurious behavior, Middle Aged, medicine.disease, Brachmann-De Lange syndrome, Phenotype, Cornelia de Lange syndrome, 030104 developmental biology, Child, Preschool, severity score, Spasms, Infantile
وصف الملف: application/msword; application/pdf
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4HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
المؤلفون: Mala Isrie, Vera M. Kalscheuer, Maureen Holvoet, Nathalie Fieremans, Koenraad Devriendt, Hilde Van Esch
المساهمون: Clinical sciences, Medical Genetics
المصدر: European Journal of Medical Genetics
Europe PubMed Centralمصطلحات موضوعية: Exome/genetics, Male, Child, preschool, Ubiquitin-Protein Ligases, HUWE1 gene, Mutation, Missense, Biology, Chromosomes, Human, X/genetics, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Coding region, Exome, Upper Extremity Deformities, Congenital, Ubiquitin-Protein Ligases/genetics, Child, Gene, Genetics (clinical), Chromosomes, Human, X, Upper Extremity Deformities, Congenital/diagnosis, Tumor Suppressor Proteins, Intellectual Disability/diagnosis, General Medicine, medicine.disease, Phenotype, Pedigree, Mutation (genetic algorithm), Female
وصف الملف: application/pdf
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المؤلفون: Mala Isrie, Niels Vanthillo, Chloë Scheldeman, Lieven Lagae, Yue Liu, Mitchell Goldfarb, Aleksandra Siekierska, Peter de Witte, Gunnar M. Buyse, Hilde Van Esch
المساهمون: Human genetics
المصدر: Neurology, 86(23), 2162-2170. Lippincott Williams and Wilkins
Siekierska, A, Isrie, M, Liu, Y, Scheldeman, C, Vanthillo, N, Lagae, L, Witte, P A M D, Esch, H V, Goldfarb, M & Buyse, G M 2016, ' Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy ', Neurology, vol. 86, no. 23, pp. 2162-2170 . https://doi.org/10.1212/WNL.0000000000002752مصطلحات موضوعية: Male, 0301 basic medicine, Mutant, Biology, medicine.disease_cause, Article, Animals, Genetically Modified, Mice, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Atrophy, Cerebellar Diseases, Cell Line, Tumor, medicine, Animals, Humans, Missense mutation, Age of Onset, Child, Zebrafish, Mutation, Epilepsy, Siblings, Sodium channel, Brain, biology.organism_classification, medicine.disease, Molecular biology, Phenotype, Fibroblast Growth Factors, 030104 developmental biology, NAV1.6 Voltage-Gated Sodium Channel, Child, Preschool, Female, Cerebellar atrophy, Neurology (clinical), 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8493eb0d8865de08a1641233be07425
https://research.vumc.nl/en/publications/fc730bc6-077b-4867-9475-b7a1dd2c9e57 -
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المؤلفون: Mala Isrie, K Doonanco, Stéphanie Moortgat, Andi H. Hansen, Valeria Marton, Norma Leonard, Erica E. Davis, Faten Tinsa, Jasmin Morandell, Ender Karaca, Nicholas Katsanis, Hilde Van Esch, Elena Porta Dapena, Alejandro Sifrim, Francesca Cristofoli, David A. Keays, Zachari A. Kupchinsky, Nicholas J. Cowan, Joris Vermeesch, Martin W. Breuss, Celia Maria Rodriguez-Rodriguez, Erkan Koparir, Guoling Tian, Hakan Ulucan
المساهمون: Human genetics
المصدر: American journal of human genetics, 97(6), 790-800. Cell Press
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014مصطلحات موضوعية: Male, Protein Folding, Mutant, Gene Dosage, Inheritance Patterns, Haploinsufficiency, Guanosine triphosphate, medicine.disease_cause, Microtubules, Cutis Laxa, chemistry.chemical_compound, Tubulin, Genetics(clinical), Child, Zebrafish, Genetics (clinical), Skin, Genetics, Mutation, circumferential skin creases, Brain, Gene Expression Regulation, Developmental, tubulinopathy, Female, Michelin tire baby, Microtubule-Associated Proteins, Adolescent, Microtubule-associated protein, Hamartoma, Genes, Recessive, Biology, Article, Young Adult, Microtubule, medicine, Animals, Humans, MAPRE2, Infant, biology.organism_classification, TUBB, chemistry, biology.protein, Skin Abnormalities, Protein Multimerization, exome sequencing
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المؤلفون: Masoud Zamani Esteki, Mala Isrie, Jeroen Van Houdt, Hilde Van Esch, Hilde Peeters, Thierry Voet, Wim Van Paesschen
المصدر: European journal of medical genetics. 58(4)
مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Genetic Linkage, Mutation, Missense, Biology, Bioinformatics, Epilepsy, Asian People, Genetic linkage, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Exome, Family, Genetics (clinical), Exome sequencing, Problem Behavior, Massive parallel sequencing, Base Sequence, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, General Medicine, Sequence Analysis, DNA, medicine.disease, Female, Apoptosis Regulatory Proteins
وصف الملف: Print-Electronic
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8Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
المؤلفون: Mala Isrie, Tjitske Kleefstra, Joris Vermeesch, Marjolein H. Willemsen, Yvonne Hendriks, Erik A. Sistermans, Nicole Gielissen, Hilde Van Esch, Hilde Peeters
المساهمون: NCA - Attention & Cognition, Human genetics
المصدر: European Journal of Human Genetics, 20, 131-3
European Journal of Human Genetics, 20(2), 131-133. Nature Publishing Group
European Journal of Human Genetics, 20, 2, pp. 131-3
Isrie, M, Hendriks, Y, Gielissen, N, Sistermans, E A, Willemsen, M H, Peeters, H, Vermeesch, J R, Kleefstra, T & Van Esch, H 2012, ' Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms ', European Journal of Human Genetics, vol. 20, no. 2, pp. 131-133 . https://doi.org/10.1038/ejhg.2011.105مصطلحات موضوعية: Male, Candidate gene, Potential candidate, Biology, Short stature, Article, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Autistic features, Cognitive impairment, Genetics (clinical), Zinc Fingers, Effective primary care and public health [NCEBP 7], Microdeletion syndrome, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Repressor Proteins, Chromosome Deletion, medicine.symptom, Cognition Disorders, Haploinsufficiency, Chromosomes, Human, Pair 16
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المؤلفون: Joris Vermeesch, Mala Isrie, Matthew S. Hestand, Hilde Van Esch, Peter N. Robinson, Radka Stoeva, Maarten Larmuseau, Jeroen Van Houdt, Matthias Declercq, Koen Devriendt, Erika Souche, Ronny Decorte, Nancy Vanderheyden, Thierry Voet, Martin A. Mensah
المساهمون: Payseur, Bret A, Human genetics
المصدر: Mensah, M A, Hestand, M S, Larmuseau, M H D, Isrie, M, Vanderheyden, N, Declercq, M, Souche, E L, Van Houdt, J, Stoeva, R, Van Esch, H, Devriendt, K, Voet, T, Decorte, R, Robinson, P N & Vermeesch, J R 2014, ' Pseudoautosomal Region 1 Length Polymorphism in the Human Population ', PLoS Genetics, vol. 10, no. 11 . https://doi.org/10.1371/journal.pgen.1004578
PLoS Genetics
PLoS Genetics, Vol 10, Iss 11, p e1004578 (2014)
PLoS Genetics, 10(11). Public Library of Scienceمصطلحات موضوعية: Cancer Research, lcsh:QH426-470, Pseudoautosomal region, Biology, Y chromosome, Chromosomes, Translocation, Genetic, X-inactivation, Evolution, Molecular, Chromosome 16, Medicine and Health Sciences, Genetics, Animals, Humans, Homologous Recombination, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, X chromosome, Repetitive Sequences, Nucleic Acid, Clinical Genetics, Chromosomes, Human, X, Evolutionary Biology, Chromosomes, Human, Y, Polymorphism, Genetic, Biology and Life Sciences, Hominidae, Genomics, lcsh:Genetics, Chromosome 4, Haplotypes, Chromosome 21, Chromosome 22, Research Article
وصف الملف: Electronic-eCollection
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المؤلفون: Koenraad Devriendt, Wim Wuyts, Mala Isrie, Hilde Van Esch
المصدر: American journal of medical genetics : part A
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Limb reduction, Limb Deformities, Congenital, Biology, medicine.disease_cause, Ectodermal Dysplasia, Genetics, medicine, Humans, Family, Genetics (clinical), Mutation, Scalp, RBPJ, Truncating mutation, GTPase-Activating Proteins, Anatomy, Sequence Analysis, DNA, medicine.disease, Phosphoproteins, Phenotype, Penetrance, Pedigree, medicine.anatomical_structure, Scalp Dermatoses, Immunoglobulin J Recombination Signal Sequence-Binding Protein, Female, Human medicine, Adams–Oliver syndrome
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