نتائج البحث - "genomic disorders"

1

Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95

مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test

2

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

مصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test

3

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test

4

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

المؤلفون: Lambert P. van den Heuvel, Kinga Hadzsiev, Willy M. Nillesen, G Gillessen-Kaesbach, Eva Morava, Katalin Hollody, Martin Lammens, Cees Noordam, Ernie M.H.F. Bongers, Jan A.M. Smeitink, Ineke van der Burgt, Richard J. Rodenburg, Saskia B. Wortmann, Tjitske Kleefstra

المصدر: European Journal of Human Genetics, 19, 138-44
European Journal of Human Genetics, 19, 2, pp. 138-44

مصطلحات موضوعية: Heart Defects, Congenital, Mitochondrial encephalomyopathy, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], MAP Kinase Signaling System, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, Bioinformatics, DNA, Mitochondrial, LEOPARD Syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Article, Craniofacial Abnormalities, Proto-Oncogene Proteins p21(ras), Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Encephalomyopathies, Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, HRAS, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Inner mitochondrial membrane, Genetics (clinical), Renal disorder [IGMD 9], Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Barth syndrome, Middle Aged, 3-Methylglutaconic Aciduria, Glycostation disorders [IGMD 4], medicine.disease, PTPN11, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Mitochondrial medicine [IGMD 8], Child, Preschool, Barth Syndrome, Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Skin Abnormalities, ras Proteins, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d198fcb1a856576a63dd57f2676facTest
https://hdl.handle.net/2066/97118Test

5

Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning

المؤلفون: Linda Reus, Leo A. van Vlimmeren, Maria W.G. Nijhuis-van der Sanden, Machiel J. Zwarts, Barto J. Otten, Michèl A.A.P. Willemsen

المصدر: Neuroscience and Biobehavioral Reviews, 35, 3, pp. 956-69
Neuroscience and Biobehavioral Reviews, 35, 956-69

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Weakness, Movement disorders, Prader–Willi syndrome, Cognitive Neuroscience, Quality of nursing and allied health care [NCEBP 6], Neuromuscular Junction, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Muscle mass, Growth hormone, Body composition, Neuromuscular junction, Fat mass, Behavioral Neuroscience, Physical medicine and rehabilitation, Internal medicine, medicine, Humans, Human Movement & Fatigue [NCEBP 10], Movement Disorders, business.industry, Quality of nursing and allied health care Genomic disorders and inherited multi-system disorders [NCEBP 6], nutritional and metabolic diseases, Hypotonia, nervous system diseases, Mitochondrial medicine [IGMD 8], Neuropsychology and Physiological Psychology, medicine.anatomical_structure, Endocrinology, Systematic review, Lean body mass, medicine.symptom, business, Functional Neurogenomics [DCN 2], Prader-Willi Syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae0a60bd232db0e025e460186cd12d9Test
https://doi.org/10.1016/j.neubiorev.2010.10.015Test

6

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

المؤلفون: Martin Lammens, Merei Huigsloot, Richard J. Rodenburg, Radek Szklarczyk, Ute Spiekerkoetter, Lambert P. van den Heuvel, Martijn A. Huynen, Werner J.H. Koopman, Jürgen-Christoph von Kleist-Retzow, Marleen Forkink, Jack A.M. Fransen, Jitske Jansen, An I. Jonckheere, Jan A.M. Smeitink

المصدر: Mitochondrion, 11, 6, pp. 954-63
Mitochondrion, 11, 954-63
ResearcherID

مصطلحات موضوعية: Male, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Mitochondrial disease, Mitochondrion, Biology, Renal disorder Energy and redox metabolism [IGMD 9], Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Proteins, Perception and Action [DCN 1], medicine, Humans, Inner mitochondrial membrane, Molecular Biology, Gene, Cells, Cultured, Renal disorder [IGMD 9], Sequence Deletion, Comparative genomics, Adenosine Triphosphatases, Genetic Complementation Test, Infant, Newborn, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Membrane Proteins, Cell Biology, Immunogold labelling, Fibroblasts, Mitochondrial Proton-Translocating ATPases, medicine.disease, Mitochondrial morphology, Molecular biology, Mitochondria, Renal disorder Membrane transport and intracellular motility [IGMD 9], Complementation, Mitochondrial medicine [IGMD 8], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Molecular Medicine, Carrier Proteins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972fd7a78c5871d452ab572f18693111Test
https://hdl.handle.net/2066/97316Test

7

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

المؤلفون: Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg

المصدر: Gene, 516, 162-7
Gene, 516, 1, pp. 162-7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9Test
https://doi.org/10.1016/j.gene.2012.12.024Test

8

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

المؤلفون: Anna-Elina Lehesjoki, Sascha Vermeer, Eva Morava, M. Horvers, Michèl A.A.P. Willemsen, B.P.C. van de Warrenburg, Anna-Kaisa Anttonen, Saskia B. Wortmann

المصدر: European Journal of Paediatric Neurology, 17, 199-203
European Journal of Paediatric Neurology, 17, 2, pp. 199-203

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DCN MP - Plasticity and memory, Marinesco–Sjögren syndrome, Disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Cataracts, Intellectual disability, medicine, Guanine Nucleotide Exchange Factors, Humans, Child, Myopathy, Spinocerebellar Degenerations, 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, business.industry, Autosomal recessive cerebellar ataxia, General Medicine, medicine.disease, eye diseases, 3. Good health, Phenotype, Mitochondrial medicine [IGMD 8], Peripheral neuropathy, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d60b5fb607dcadd4f7e5cbc7c213ebcTest
https://doi.org/10.1016/j.ejpn.2012.09.007Test

9

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

المؤلفون: Nabuurs, C.I.H.C., Choe, C.U., Veltien, A.A., Kan, H.E., Loon, L.J.C. van, Rodenburg, R.J.T., Matschke, J., Wieringa, B., Kemp, G.J., Isbrandt, D., Heerschap, A.

المساهمون: RS: NUTRIM - R3 - Chronic inflammatory disease and wasting, RS: NUTRIM - R1 - Metabolic Syndrome, Nutrition and Movement Sciences

المصدر: Journal of Physiology, 591(2), 571-592. Wiley
Journal of Physiology, 591, 571-92
Journal of Physiology, 591, Pt 2, pp. 571-92

مصطلحات موضوعية: ACTIVATED PROTEIN-KINASE, MITOCHONDRIAL RESPIRATION, MAGNETIC-RESONANCE-SPECTROSCOPY, HUMAN SKELETAL-MUSCLE, HUMAN BRAIN, Genomic disorders and inherited multi-system disorders [IGMD 3], INORGANIC-PHOSPHATE, Mitochondrial medicine [IGMD 8], ORAL SUPPLEMENTATION, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, Translational research [ONCOL 3], Energy and redox metabolism Mitochondrial medicine [NCMLS 4], RESPIRATORY-CHAIN, Translational research Energy and redox metabolism [ONCOL 3], IN-VIVO

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd87e57907502202024c5418dd89b8f9Test
https://doi.org/10.1113/jphysiol.2012.241760Test

10

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

المؤلفون: Nicole I. Wolf, Richard J. Rodenburg, Patrick Ferreira, Peter Heutink, Truus E.M. Abbink, Leo G.J. Nijtmans, Dietz Rating, Adeline Vanderver, Roelineke J. Lunsing, Hugo A. Arroyo, Sietske H. Kevelam, Anne Mitchell, Marjo S. van der Knaap, Carola G.M. van Berkel

المساهمون: Other departments, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Faculteit Medische Wetenschappen/UMCG, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: ResearcherID
Neurology, 80(17), 1577-1583. Lippincott Williams and Wilkins
Neurology, 80, 17, pp. 1577-83
Kevelam, S H G, Rodenburg, R J, Wolf, N I, Ferreira, P, Lunsing, R J, Nijtmans, L G, Mitchell, A, Arroyo, H A, Rating, D, Vanderver, A, van Berkel, C G M, Abbink, G E M, Heutink, P & van der Knaap, M S 2013, ' NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern ', Neurology, vol. 80, no. 17, pp. 1577-1583 . https://doi.org/10.1212/WNL.0b013e31828f1914Test
Neurology, 80, 1577-83
Neurology, 80(17), 1577-1583. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 80(17), 1577-1583. American Academy of Neurology

مصطلحات موضوعية: INVOLVEMENT, Pathology, medicine.medical_specialty, DISORDERS, DNA Mutational Analysis, LEUKOENCEPHALOPATHY, Biology, Corpus callosum, medicine.disease_cause, DIAGNOSIS, BRAIN-STEM, Article, DISEASE, White matter, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Mutant protein, Leukoencephalopathies, medicine, Humans, Gene, Exome sequencing, Genetics, Mutation, Electron Transport Complex I, medicine.diagnostic_test, MEMBRANE-PROTEIN, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Magnetic resonance imaging, Magnetic Resonance Imaging, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Cerebellar cortex, Neurology (clinical), WHITE-MATTER

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618906801e837b2f28574d6f16d7f930Test
https://doi.org/10.1212/wnl.0b013e31828f1914Test

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