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1
المؤلفون: Diana Johnson, Jonathan Ellenbogen, Elise Schaefer, Annie Joseph, Gavin Ryan, Ange-Line Bruel, Celia Moss, Rebecca Keelagher, Bethanie Rooke, Alison Foster, Harriet Walker, Pierre Vabres, Quentin Thomas, Trevor Cole, Andrea Jester, Thalia Antoniadi, Rebecca Igbokwe, Maxime Luu, Véronique Quenardelle, Basile Chalot, Christophe Philippe, Arthur Sorlin, Laurence Faivre, Valérie Wolff, Derek Lim, Jessica Woodley, Marc Bardou, Christel Thauvin-Robinet
المصدر: Clinical Genetics. 98:19-31
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Infantile myofibromatosis, PDGFRB, Scoliosis, 030105 genetics & heredity, Craniosynostosis, Receptor, Platelet-Derived Growth Factor beta, 03 medical and health sciences, Camptodactyly, Genetics, medicine, Humans, Joint dislocation, Stroke, Growth Disorders, Genetics (clinical), business.industry, Genetic Variation, Middle Aged, medicine.disease, Cerebrovascular Disorders, Phenotype, 030104 developmental biology, medicine.symptom, Lipodystrophy, business
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2
المؤلفون: Alaa Afif Mohammed, Yong-hui Jiang, Thalia Antoniadi, Cynthia J. Curry, Celia Zazo Seco, Dorine Bax, Slavé Petrovski, Samuel J.H. Clokie, Vandana Shashi, Stephen W. Wilson, Dianne Gerrelli, Nicola K. Ragge, Marco Tartaglia, Nicolas Chassaing, Andrea Ciolfi, Marleen Simon, Bruce D. Gelb, Helle Andersen, Zöe Powis, Patrick Calvas, Jennifer A. Sullivan, Fabiola Ceroni, Constance Smith-Hicks, Emanuele Bellacchio, Kristina Pilekær Sørensen, Rodrigo M. Young, Christina Fagerberg, Alessandro De Luca, Ellen van Binsbergen, Luigi Memo, William B. Dobyns, Anna Chassevent, Berta Crespo, Richard J. Holt
المساهمون: Holt R.J., Young R.M., Crespo B., Ceroni F., Curry C.J., Bellacchio E., Bax D.A., Ciolfi A., Simon M., Fagerberg C.R., van Binsbergen E., De Luca A., Memo L., Dobyns W.B., Mohammed A.A., Clokie S.J.H., Zazo Seco C., Jiang Y.-H., Sorensen K.P., Andersen H., Sullivan J., Powis Z., Chassevent A., Smith-Hicks C., Petrovski S., Antoniadi T., Shashi V., Gelb B.D., Wilson S.W., Gerrelli D., Tartaglia M., Chassaing N., Calvas P., Ragge N.K.
المصدر: Holt, R J, Young, R M, Crespo, B, Ceroni, F, Curry, C J, Bellacchio, E, Bax, D A, Ciolfi, A, Simon, M, Fagerberg, C R, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, W B, Mohammed, A A, Clokie, S J H, Zazo Seco, C, Jiang, Y H, Sørensen, K P, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, B D, Wilson, S W, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P & Ragge, N K 2019, ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ', American Journal of Human Genetics, vol. 105, no. 3, pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005
American Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, Adolescent, hedgehog, Ubiquitin-Protein Ligases, brain, Mutation, Missense, Biology, Fingers, 03 medical and health sciences, Wnt, FBXW11, Report, Genetics, medicine, Humans, Noonan syndrome, Eye Abnormalities, Child, Exome, Zebrafish, development, Genetics (clinical), 030304 developmental biology, 0303 health sciences, neurodevelopment, digit, 030305 genetics & heredity, Wnt signaling pathway, WD40, medicine.disease, biology.organism_classification, beta-Transducin Repeat-Containing Proteins, Phenotype, eye, human development, Ubiquitin ligase complex, Child, Preschool, Eye development, Female
وصف الملف: application/pdf; STAMPA
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3
المؤلفون: N. Forrester, Martin Samuels, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, R. Kulshrestha
المصدر: Neuromuscular disorders : NMD. 28(12)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Weakness, Diaphragm, Late onset, Disease, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Medicine, Humans, Diaphragmatic weakness, Respiratory system, Child, Genetics (clinical), Respiratory distress, business.industry, Infant, Sensory loss, Spinal muscular atrophy, medicine.disease, Respiration Disorders, DNA-Binding Proteins, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Transcription Factors
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المؤلفون: Michael J. Griffiths, Alison Foster, Thalia Antoniadi, Trevor Cole, Derek Lim, Timothy Barrett, Yvonne Wallis
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, Alternative medicine, Medicine, Medical diagnosis, business, Intensive care medicine, Research findings
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المؤلفون: Helen Griffin, Thalia Antoniadi, Venkateswaran Ramesh, Rita Horvath, Teresinha Evangelista, Mark Greenslade, Anna Bradshaw, Edit Franko, Stephanie Kleinle, Hanns Lochmüller, Patrick F. Chinnery, B Bansagi, Hannah E. Steele, Natalie Forester, James Miller, Angela Pyle, Roger G. Whittaker, Veronika Boczonadi, Jennifer Duff
المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Neurology
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neural Conduction, Electromyography, Disease, Article, Connexins, GTP Phosphohydrolases, Cohort Studies, Mitochondrial Proteins, 03 medical and health sciences, Genetic Heterogeneity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, Medicine, Humans, Young adult, Exome sequencing, Aged, Family Health, Analysis of Variance, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Middle Aged, 3. Good health, 030104 developmental biology, England, Mutation, Demyelinating motor neuropathy, Female, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Myelin Proteins, Cohort study
وصف الملف: application/pdf
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المؤلفون: Zane Jaunmuktane, Mark T. Rogers, Thalia Antoniadi, S. Burton-Jones, Sebastian Brandner, R. Kulshrestha, Tracey Willis, N. Kiely, R. Manuel
المصدر: Neuromuscular disorders : NMD. 27(8)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, SOX10, Schwann cell, Biology, DNA sequencing, Connexins, Beta-1 adrenergic receptor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Sural Nerve, Transcription (biology), Charcot-Marie-Tooth Disease, medicine, Humans, Family, education, Child, Promoter Regions, Genetic, Gene, Genetics (clinical), Aged, Sequence Deletion, Genetics, education.field_of_study, Middle Aged, medicine.disease, Molecular biology, 030104 developmental biology, Peripheral neuropathy, medicine.anatomical_structure, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Connexin 32, Female, Neurology (clinical), 030217 neurology & neurosurgery
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المؤلفون: Thomas Eggermann, Rosanna Weksberg, Frédéric Brioude, Andrea Riccio, David Monk, Gudrun E. Moore, Fiona Macdonald, Karin Buiting, Irène Netchine, Pablo Lapunzina, Thalia Antoniadi, Zeynep Tümer, Matthias Begemann, Eamonn R. Maher, Katja Eggermann, Deborah J G Mackay, Dirk Prawitt, Paolo Lombardi, Elizabeth M. Algar, Jet Bliek, Lukas Soellner, Silvia Russo, Marcel M.A.M. Mannens, Karen Grønskov
المساهمون: Institut für Humangenetik, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Department of Clinical Genetics, University of Amsterdam [Amsterdam] (UvA), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genetics and Molecular Pathology Laboratory [Clayton], Monash Health and Hudson Institute, Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Department of Clinical Genetics [Copenhagen], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Cancer Epigenetics and Biology Program-PEBC, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Fetal Growth and Developmental Group, University College of London [London] (UCL), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Center for Pediatrics and Adolescent Medicine [Mainz], University Medical Center [Mainz], DISTABiF, Seconda Universita di Napoli, Institute of Genetics and Biophysics, CNR, Naples, Departments of Paediatrics and Molecular Genetics [Toronto], University of Toronto, Division of Clinical and Metabolic Genetics [Toronto], The Hospital for sick children [Toronto] (SickKids), Program in genetics and genome biology, Institute of Medical Science, University of Toronto, INGEMM, Instituto de Genética Médica y Molecular, IDIPAZ-Hospital Universitario La Paz, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), d'Eggis, Gilles, Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Luka, Begemann, Matthia, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas, Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, ACS - Amsterdam Cardiovascular Sciences
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, ⟨10.1038/ejhg.2016.45⟩
European Journal of Human Genetics, 2016, ⟨10.1038/ejhg.2016.45⟩
European journal of human genetics, 24(10), 1377-1387. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European journal of human genetics 24 (2016): 1377–1387. doi:10.1038/ejhg.2016.45
info:cnr-pdr/source/autori:Eggermann, Katja; Bliek, Jet; Brioude, Frederic; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tumer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irene; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R.; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Gronskov, Karen; Mackay, Deborah J. G.; Eggermann, Thomas/titolo:EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome/doi:10.1038%2Fejhg.2016.45/rivista:European journal of human genetics/anno:2016/pagina_da:1377/pagina_a:1387/intervallo_pagine:1377–1387/volume:24مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Silver-Russell and Beckwith-Wiedemann syndrome, Best practice, Medizin, Beckwith–Wiedemann syndrome, MEDLINE, 030105 genetics & heredity, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Genomic Imprinting, 03 medical and health sciences, medicine, Genetics, Humans, Medical physics, Genetic Testing, Societies, Medical, Genetics (clinical), Genetic testing, Molecular Diagnostic Testing, medicine.diagnostic_test, Chromosomes, Human, Pair 11, Molecular genetic testing, Guideline, medicine.disease, 3. Good health, Europe, Silver-Russell Syndrome, Policy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Practice Guidelines as Topic, Medical genetics
وصف الملف: application/force-download; text; application/pdf
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المؤلفون: Ruth Newbury-Ecob, Michael N. Weedon, Sian Ellard, Thalia Antoniadi, Richard Caswell, Cath King, Robert Hastings, Konrad Paszkiewicz, Weijia Xie, Lynn Greenhalgh, Maggie Williams
المصدر: The American Journal of Human Genetics. 89(2):308-312
مصطلحات موضوعية: Adult, Cytoplasmic Dyneins, Male, DNA Mutational Analysis, Dynein, Biology, medicine.disease_cause, Motor protein, Mice, Young Adult, symbols.namesake, Exon, Charcot-Marie-Tooth Disease, Report, medicine, Genetics, Animals, Humans, Missense mutation, Genetics(clinical), Genetics (clinical), Exome sequencing, Genes, Dominant, Sanger sequencing, Mutation, Exons, Axons, Pedigree, Child, Preschool, symbols, Axoplasmic transport, Female
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المؤلفون: Aglaia Giannoulia-Karantana, Haris Kokotas, Thalia Antoniadi, Maria Grigoriadou, Angeliki Hatzaki, Michael B. Petersen
المصدر: Genetic Testing and Molecular Biomarkers. 14:189-192
مصطلحات موضوعية: Male, Cost-Benefit Analysis, Hearing Loss, Sensorineural, Population, Genes, Recessive, Single-nucleotide polymorphism, Deafness, Biology, Polymerase Chain Reaction, Connexins, Gjb2 gene, Gene Frequency, Genotype, otorhinolaryngologic diseases, Humans, Genetic Testing, Allele, Hearing Loss, education, Genetics (clinical), DNA Primers, Sequence Deletion, Genetics, education.field_of_study, Base Sequence, Greece, Genetic Carrier Screening, Haplotype, General Medicine, Connexin 26, Mutation, Mutation (genetic algorithm), Female, Greek population, Polymorphism, Restriction Fragment Length
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10Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association
المؤلفون: Thalia Antoniadi, Constantinos Makatsoris, Angeliki Hatzaki, George Haritatos, Voula Velissariou, Dimitrios Trouvas, Evangelos Dedoulis, Charalampos Karadimas, Michael B. Petersen
المصدر: Prenatal Diagnosis. 26:258-261
مصطلحات موضوعية: Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Genetic counseling, Prenatal diagnosis, Ultrasonography, Prenatal, Achondroplasia, Craniosynostosis, Craniosynostoses, Pregnancy, Humans, Receptor, Fibroblast Growth Factor, Type 3, Medicine, Genetics (clinical), Fetus, business.industry, Obstetrics and Gynecology, Dysostosis, Exons, Synostosis, medicine.disease, Osteochondrodysplasia, Surgery, Fetal Diseases, Mutation, Female, business
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المؤلفون: Andreas Pampanos, Thalia Antoniadi, Michael B. Petersen
المصدر: Prenatal Diagnosis. 21:10-13
مصطلحات موضوعية: Hearing loss, Genetic counseling, Prenatal diagnosis, Locus (genetics), Deafness, Carrier testing, Connexins, Gene Frequency, Pregnancy, Prenatal Diagnosis, otorhinolaryngologic diseases, medicine, Humans, Prelingual deafness, Allele, Allele frequency, Genetics (clinical), Genetics, Chromosomes, Human, Pair 13, Greece, business.industry, Genetic Carrier Screening, Obstetrics and Gynecology, Connexin 26, Mutation, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1182503745d02f59c8af86c8ca641696
https://doi.org/10.1002/1097-0223(200101)21:1<10::aid-pd968>3.0.co;2-h -
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المؤلفون: Joanne Traeger-Synodinos, Thalia Antoniadi, Christina Vrettou, Giles Palmer, Minas Mastrominas, Emmanuel Kanavakis, Maria Tzetis
المصدر: Prenatal Diagnosis. 19:1209-1216
مصطلحات موضوعية: Genetics, education.field_of_study, Population, Obstetrics and Gynecology, Biology, Preimplantation genetic diagnosis, Molecular biology, law.invention, law, Gene duplication, Genotype, Allele, education, Nested polymerase chain reaction, Genotyping, Genetics (clinical), Polymerase chain reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92fc2271f6cd7eae8585ee724ff2970e
https://doi.org/10.1002/(sici)1097-0223(199912)19:13<1209::aid-pd722>3.0.co;2-6 -
13Conference
المؤلفون: Evelyn Amoah-Buahin, Ramona Ramdath, Thalia Antoniadi, Neil Bone, John Armstrong
مصطلحات موضوعية: Uncategorised value
Relation: 10779/uos.23360945.v1; https://figshare.com/articles/presentation/Schizosaccharomyces_pombe_a_dimorphic_fission_yeast/23360945
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المؤلفون: Thalia Antoniadi, S Milligos, G Pistofidis, Maria Tzetis, Christos Kattamis, Emmanouel Kanavakis
المصدر: Molecular Human Reproduction. 4:333-337
مصطلحات موضوعية: Male, Infertility, congenital, hereditary, and neonatal diseases and abnormalities, Embryology, medicine.medical_specialty, Cystic Fibrosis, DNA Mutational Analysis, Obstructive azoospermia, urologic and male genital diseases, Cystic fibrosis, Gastroenterology, Male infertility, Vas Deferens, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Allele, Molecular Biology, Azoospermia, biology, Obstetrics and Gynecology, Oligospermia, Cell Biology, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Endocrinology, Reproductive Medicine, Mutation, biology.protein, Developmental Biology
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المؤلفون: Christos, Yapijakis, Thalia, Antoniadi, Katerina, Salavoura, Costas, Voumvourakis, Eleftherios, Vairaktaris
المصدر: In vivo (Athens, Greece). 26(1)
مصطلحات موضوعية: Adult, Family Health, Male, Genotype, DNA Mutational Analysis, Factor V, Genetic Counseling, Middle Aged, Pedigree, Young Adult, Gene Frequency, Risk Factors, Thromboembolism, Mutation, Humans, Thrombophilia, Female, Prothrombin, Genetic Testing, Polymorphism, Restriction Fragment Length
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المؤلفون: Nikolaos Eleftheriades, Michael B. Petersen, A. Skevas, Vassiliki Iliadou, Drakoulis Yannoukakos, Andreas Pampanos, T. Iliades, P. Leotsakos, Thalia Antoniadi, John Economides, Nikolaos Voyiatzis, Maria Grigoriadou, Michael Tsakanikos, Irene Konstantopoulou, P. Neou
المصدر: ORL. 64:321-323
مصطلحات موضوعية: Genetics, education.field_of_study, Hearing loss, Population, Chromosome, Biology, medicine.disease, Otorhinolaryngology, Mutation (genetic algorithm), otorhinolaryngologic diseases, medicine, Prelingual deafness, Nonsyndromic deafness, medicine.symptom, Allele, education, Gene
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المؤلفون: Thalia Antoniadi, Kayal Vijayakumar, N. Forrester, Sarah Burton-Jones, Anirban Majumdar, A. Norman
المصدر: Neuromuscular Disorders. 25:S285
مصطلحات موضوعية: chemistry.chemical_classification, business.industry, Frame (networking), medicine.disease, Molecular biology, Domain (software engineering), Amino acid, Neurology, chemistry, Congenital insensitivity to pain with anhidrosis, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Tyrosine kinase, Genetics (clinical)
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المؤلفون: Danijela Radivojevic, Thalia Antoniadi, Maria Tzetis, Marina Djurisic, Emmanuel Kanavakis, Jovan Savic, Tanja Lalic, Marija Guc-Scekic, P. Minic
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Cystic Fibrosis, Genetic counseling, Yugoslavia, Cystic Fibrosis Transmembrane Conductance Regulator, Prenatal diagnosis, Genetic Counseling, medicine.disease_cause, Cystic fibrosis, Gene Frequency, Pregnancy, Risk Factors, Prenatal Diagnosis, medicine, Humans, Allele, Allele frequency, Genetics (clinical), Alleles, Genetics, Mutation, biology, business.industry, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, biology.protein, Female, business, Temperature gradient gel electrophoresis
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المؤلفون: Emmanuel Kanavakis, Joanne Traeger-Synodinos, George Adam, Thalia Antoniadi, Stavros Doudounakis, Christos Kattamis, Maria Tzetis
المصدر: Molecular and Cellular Probes. 9:283-285
مصطلحات موضوعية: Adult, Male, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Cystic Fibrosis, Greece, RNA Splicing, Cystic Fibrosis Transmembrane Conductance Regulator, Exons, Cell Biology, Biology, medicine.disease, Cystic fibrosis, Cftr gene, Exon, Child, Preschool, Mutation, Mutation (genetic algorithm), medicine, Humans, Missense mutation, Female, splice, Identification (biology), Molecular Biology