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Wyświetlanie 1-17 z 17
Tytuł :
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Autorzy :
Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Govindaraj P; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Center for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
Kievit M; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.
de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Stassen APM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Taly AB; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Sankaran BP; The Faculty of Medicine and Health, The Children's Hospital at Westmead Clinical School, Sydney Medical School, The University of Sydney, NSW, Australia.
Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Sep; Vol. 31 (9), pp. 859-864. Date of Electronic Publication: 2021 Jul 04.
Typ publikacji :
Case Reports
Raport
Tytuł :
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Autorzy :
Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Engelen BPH; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
Hemel IMGM; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Jacobs EH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
Sadeghi-Niaraki F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
van Tienen FHJ; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands. .; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands. .; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. .
Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug 23. Date of Electronic Publication: 2021 Aug 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
Autorzy :
de Vries RJ; Department of Clinical Genetics, Amsterdam University Medical Center, location Academic Medical Center, Amsterdam, The Netherlands.
Jaeger B; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands.
Reneman L; Department of Radiology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
van Maarle MC; Department of Clinical Genetics, Amsterdam University Medical Center, location Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: .
Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, The Netherlands.
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Źródło :
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2021 Jul; Vol. 206, pp. 106637. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Autorzy :
Stroeks SLVM; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Tayal U; National Heart Lung Institute, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom.
Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Henkens MTHM; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.
Ware JS; National Heart Lung Institute, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom.; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
Heymans SRB; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.; Centre for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW Institute for Developmental Biology and Cancer, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Verdonschot JAJ; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands. .; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun 30. Date of Electronic Publication: 2021 Jun 30.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Autorzy :
Eleftheriadou M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Medici-van den Herik E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Ruijter G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Feb; Vol. 9 (2), pp. e1595. Date of Electronic Publication: 2021 Jan 11.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Acyl-CoA Dehydrogenase/*deficiency
Amino Acid Metabolism, Inborn Errors/*genetics
Autistic Disorder/*genetics
Oxidoreductases Acting on CH-CH Group Donors/*genetics
Acyl-CoA Dehydrogenase/genetics ; Amino Acid Metabolism, Inborn Errors/pathology ; Autistic Disorder/pathology ; Child ; Female ; Humans ; Mutation ; Whole Exome Sequencing
SCR Disease Name :
Isobutyryl-CoA dehydrogenase deficiency
Czasopismo naukowe
Tytuł :
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.
Autorzy :
Joosten IBT; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
de Greef BTA; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, Maastricht, The Netherlands.
Smeets HJM; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, Maastricht, The Netherlands.; School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
de Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Faber CG; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Gerrits MM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jul; Vol. 28 (7), pp. 956-962. Date of Electronic Publication: 2020 Mar 12.
Typ publikacji :
Journal Article
MeSH Terms :
Paternal Inheritance*
Trinucleotide Repeat Expansion*
Myotonic Dystrophy/*genetics
Adult ; Child ; Chromosomes, Human, Pair 19/genetics ; Female ; Humans ; Male ; Myotonic Dystrophy/pathology
Czasopismo naukowe
Tytuł :
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Autorzy :
Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.
Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Helderman-van den Enden ATJM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
de Haan A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Christiaans I; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Lekanne Deprez RH; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Boen HM; Department of Cardiology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
van Craenenbroeck EM; Department of Cardiology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Loeys BL; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Hoedemaekers YM; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Marcelis C; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Kempers M; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Brusse E; Department of Neurology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.
van Waning JI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Baas AF; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Dooijes D; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Asselbergs FW; Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.
Koopman P; Department of Cardiology, Heart Center Hasselt, Belgium.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Heymans SRB; Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; The Netherlands Heart Institute, Utrecht, The Netherlands.
Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Department of Genetics and Cell Biology, GROW Institute for Developmental Biology and Cancer, Maastricht University Medical Centre, Maastricht, The Netherlands.
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Źródło :
Human mutation [Hum Mutat] 2020 Jun; Vol. 41 (6), pp. 1091-1111. Date of Electronic Publication: 2020 Mar 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Autorzy :
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands. Electronic address: debby.hellebrekers@mumc.nl.
Blakely EL; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands.
Hardy SA; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hopton S; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Falkous G; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
de Coo IFM; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; Department of Neurology, Medical Spectrum Twente, Koningsplein 1, 7512 KZ Enschede, the Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; MHeNs School for Mental Health and Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands.
van der Beek NME; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Taylor RW; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Sep; Vol. 29 (9), pp. 693-697. Date of Electronic Publication: 2019 Aug 21.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA, Mitochondrial/*genetics
Muscle, Skeletal/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
RNA, Transfer, Met/*genetics
Aged ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Muscle, Skeletal/metabolism ; Mutation ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Autorzy :
Theunissen TEJ; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Nguyen M; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Kamps R; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Hendrickx AT; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Sallevelt SCEH; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Gottschalk RWH; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Calis CM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Stassen APM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
de Koning B; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Mulder-Den Hartog ENM; Department of Pediatric Neurology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.
Fuchs SA; Department of Metabolic Disorders, University Medical Centre Utrecht, Utrecht, Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
de Visser M; Department of Neurology, Academic Medical Centre Amsterdam, Amsterdam, Netherlands.
Vanoevelen J; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Szklarczyk R; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Gerards M; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Maastricht Center for Systems Biology (MaCSBio), Maastricht University Medical Centre, Maastricht, Netherlands.
de Coo IFM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Pediatric Neurology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.
Hellebrekers DMEI; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
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Źródło :
Frontiers in genetics [Front Genet] 2018 Oct 12; Vol. 9, pp. 400. Date of Electronic Publication: 2018 Oct 12 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Autorzy :
Kamps R; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.; School for Cardiovascular Diseases, Maastricht University, Maastricht, The Netherlands.
Szklarczyk R; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
Theunissen TE; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Boesten IB; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
de Koning B; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
van den Bosch BJ; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Salomons GS; Department of Clinical Chemistry, VU University Medical Center/Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
Simas-Mendes M; Department of Clinical Chemistry, VU University Medical Center/Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
Verdijk R; Department of Pathology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
de Coo IFM; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Vanoevelen JM; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands. .; School for Cardiovascular Diseases, Maastricht University, Maastricht, The Netherlands. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Apr; Vol. 26 (4), pp. 537-551. Date of Electronic Publication: 2018 Feb 13.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Cardiomyopathies/*genetics
DNA, Mitochondrial/*genetics
Developmental Disabilities/*genetics
Mitochondrial Diseases/*genetics
Alanine-tRNA Ligase/genetics ; Cardiomyopathies/diagnosis ; Carrier Proteins/genetics ; Developmental Disabilities/diagnosis ; Female ; Fetus ; Humans ; Infant ; Male ; Mitochondrial Diseases/diagnosis ; Nitrogenous Group Transferases/genetics ; Oxidative Phosphorylation ; Pedigree ; RNA-Binding Proteins ; Syndrome
Czasopismo naukowe
Tytuł :
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Autorzy :
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Gerards M; Maastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
van Tienen FH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Hartog ENMM; Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
Scholte HR; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Verdijk RM; Department of Pathology, Erasmus Medical Center, Rotterdam, Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
de Coo IFM; Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Maastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands.
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Źródło :
Frontiers in molecular neuroscience [Front Mol Neurosci] 2017 Oct 18; Vol. 10, pp. 336. Date of Electronic Publication: 2017 Oct 18 (Print Publication: 2017).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
Autorzy :
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.
Dreesen JCFM; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.
Coonen E; Department of Obstetrics and Gynaecology, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.
de Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
Lindsey P; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
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Źródło :
Journal of medical genetics [J Med Genet] 2017 Oct; Vol. 54 (10), pp. 693-697. Date of Electronic Publication: 2017 Jul 01.
Typ publikacji :
Evaluation Study; Journal Article
MeSH Terms :
Blastomeres*
DNA, Mitochondrial/*genetics
Genetic Testing/*methods
Preimplantation Diagnosis/*methods
Biopsy ; Blastocyst ; Diagnostic Errors ; Female ; Heterozygote ; Humans ; Mutation ; Pregnancy
Czasopismo naukowe
Tytuł :
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Autorzy :
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Gottschalk RW; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Habets DD; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Schoonderwoerd KG; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Jun; Vol. 25 (7), pp. 886-888. Date of Electronic Publication: 2017 Apr 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
INDEL Mutation*
Ataxia/*genetics
Dysarthria/*genetics
Membrane Transport Proteins/*genetics
Muscle Weakness/*genetics
Ataxia/diagnosis ; Ataxia/drug therapy ; Cells, Cultured ; Dysarthria/diagnosis ; Dysarthria/drug therapy ; Fibroblasts/metabolism ; Humans ; Male ; Middle Aged ; Muscle Weakness/diagnosis ; Muscle Weakness/drug therapy ; Phenotype ; Riboflavin/metabolism ; Riboflavin/therapeutic use ; Syndrome ; Vitamin B Complex/metabolism ; Vitamin B Complex/therapeutic use
Czasopismo naukowe
Tytuł :
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Autorzy :
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
van den Bosch BJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Centre (MC), Rotterdam, The Netherlands.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Mulder-Den Hartog ENM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
de Coo IFM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address: .
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Źródło :
The Journal of pediatrics [J Pediatr] 2017 Mar; Vol. 182, pp. 371-374.e2. Date of Electronic Publication: 2017 Jan 09.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Congenital Abnormalities/*genetics
Genetic Diseases, Inborn/*diagnosis
Sequence Analysis, DNA/*methods
Amidohydrolases/genetics ; Carboxylic Ester Hydrolases/genetics ; Congenital Abnormalities/diagnosis ; Exome/genetics ; Genetic Testing/methods ; Genomics ; Genotype ; Humans ; Infant ; Membrane Proteins/genetics ; Microtubule-Associated Proteins ; Mutagenicity Tests ; Phenotype ; Receptors, Peptide/genetics ; Sensitivity and Specificity ; Severity of Illness Index
Czasopismo naukowe
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