نتائج البحث - "genomic disorders"

71

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

72

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

المساهمون: Human genetics, Other Research, Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Public Health, Clinical Genetics

المصدر: Nature Genetics, 44, 581-5
Roscioli, T, Kamsteeg, E J, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, L E L M, Schraders, M, Altunoglu, U, Buckley, M F, Brunner, H G, Grisart, B, Zhou, H Q, Veltman, J A, Gilissen, C, Mancini, G M S, Delree, P, Willemsen, M A, Ramadza, D P, Chitayat, D, Bennett, C, Sheridan, E, Peeters, E A J, Tan-Sindhunata, M B, de Die-Smulders, C E, Devriendt, K, Kayserili, H, El-Hashash, O A, Stemple, D L, Lefeber, D J, Lin, Y Y & van Bokhoven, H 2012, ' Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan ', Nature Genetics, vol. 44, no. 5, pp. 581-585 . https://doi.org/10.1038/ng.2253Test
Nature Genetics, 44(5), 581-585. Nature Publishing Group
Nature Genetics, 44(5), 581-+. Nature Publishing Group
Nature genetics
Nature Genetics, 44, 5, pp. 581-5
Nature Genetics; Vol 44

مصطلحات موضوعية: Embryo, Nonmammalian, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Muscle Fibers, Skeletal, Walker-Warburg syndrome, O-glycosylation, ISPD gene, medicine.disease_cause, Eye, Mannosyltransferases, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Zebrafish, Genetics, 0303 health sciences, Mutation, Fukutin-related protein, biology, Brain, Walker-Warburg Syndrome, musculoskeletal system, Phenotype, Child, Preschool, Congenital muscular dystrophy, musculoskeletal diseases, animal structures, DCN MP - Plasticity and memory, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, medicine, Animals, Humans, Walker–Warburg syndrome, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e284bf358b33bcd86598fbcd6a329e8Test
https://hdl.handle.net/2066/108772Test

73

The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD

المؤلفون: Steijn, D.J. van, Richards, J.S., Oerlemans, A.M., Ruiter, S.W. de, van Aken, M.A., Franke, B., Buitelaar, J.K., Lambregts-Rommelse, N.N.J.

المصدر: Journal of Child Psychology and Psychiatry and Allied Disciplines, 53, 9, pp. 954-63
Journal of Child Psychology and Psychiatry and Allied Disciplines, 53, 954-63

مصطلحات موضوعية: Mental Health [NCEBP 9], mental disorders, DCN PAC - Perception action and control, DCN PAC - Perception action and control NCEBP 9 - Mental health, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], behavioral disciplines and activities, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3485f202bed0821d135c69d4a65840dcTest
https://hdl.handle.net/2066/109777Test

74

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

المؤلفون: Willem M.A. Verhoeven, Nicole de Leeuw, Ilse Feenstra, Jos I. M. Egger

المساهمون: Psychiatry

المصدر: European Journal of Medical Genetics, 55, 5, pp. 258-361
European Journal of Medical Genetics, 55, 5, pp. 358-61
European Journal of Medical Genetics, 55(5), 358-361. Elsevier Masson
European Journal of Medical Genetics, 55, 258-361
European Journal of Medical Genetics, 55, 358-61

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Status epilepticus, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Experimental Psychopathology and Treatment, Epilepsy, Pectus excavatum, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Psychomotor learning, Comparative Genomic Hybridization, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, Neuropsychology, General Medicine, Plasticity and Memory [DI-BCB_DCC_Theme 3], Microdeletion syndrome, medicine.disease, Female, Chromosome Deletion, medicine.symptom, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 8, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e79202f45d5fb0b0375e8cbf04edd30Test
https://hdl.handle.net/2066/110541Test

75

Neuropsychological intra-individual variability explains unique genetic variance of ADHD and shows suggestive linkage to chromosomes 12, 13, and 17

المؤلفون: Barbara Franke, Joseph A. Sergeant, Stephen V. Faraone, Alexis C. Frazier-Wood, Janita Bralten, Jan K. Buitelaar, Nanda Rommelse, Jonna Kuntsi, Alejandro Arias-Vásquez, Marjolein Luman, Jaap Ooterlaan

المصدر: American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 2, pp. 131-40
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 131-40

مصطلحات موضوعية: Male, Genetic Linkage, DCN MP - Plasticity and memory, Intelligence, DCN PAC - Perception action and control, Neuropsychological Tests, Quantitative trait locus, Biology, Mental health [NCEBP 9], behavioral disciplines and activities, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Cellular and Molecular Neuroscience, Genetic variation, medicine, Humans, Attention deficit hyperactivity disorder, DCN PAC - Perception action and control NCEBP 9 - Mental health, Child, Genetics (clinical), Linkage (software), Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 13, Genome, Human, Siblings, Neuropsychology, Chromosome Mapping, Genetic Variation, Cognition, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Prognosis, medicine.disease, Inhibition, Psychological, Psychiatry and Mental health, Memory, Short-Term, Phenotype, Reading, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Endophenotype, Autism, Female, Chromosomes, Human, Pair 17, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09f929169758390c4992a50bb125bd75Test
https://doi.org/10.1002/ajmg.b.32018Test

76

Aetiology of hypospadias: a systematic review of genes and environment

المؤلفون: Wout Feitz, Nel Roeleveld, Nine V A M Knoers, I.A.L.M. van Rooij, Barbara Franke, L.F.M. Van Der Zanden

المصدر: Human Reproduction Update, 18, 260-83
Human Reproduction Update, 18, 3, pp. 260-83

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Mutation/genetics, Placental insufficiency, Bioinformatics, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genetic, Pre-Eclampsia, Polymorphism (computer science), Pregnancy, medicine, Homeobox, Humans, Prenatal Exposure Delayed Effects/etiology, Tissue engineering and pathology Renal disorder [NCMLS 3], Polymorphism, Gynecology, Hypospadias/etiology, Hypospadias, Polymorphism, Genetic, business.industry, Genes, Homeobox, Obstetrics and Gynecology, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, Reproductive Medicine, Human Reproduction Renal disorder [NCEBP 12], Genes, SRD5A2, Prenatal Exposure Delayed Effects, Mutation, HSD3B2, Etiology, Female, Gene-Environment Interaction, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2ae3e0e7d63ea0247c2ac50a513e90Test
https://doi.org/10.1093/humupd/dms002Test

77

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

المساهمون: Public Health, Clinical Genetics, Ethical, Legal, Social Issues in Genetics (ELSI)

المصدر: Nature Genetics, 44(4), 440-U255. Nature Publishing Group
Nature Genetics, 44, 4, pp. 440-4, S1-2
Nature Genetics; Vol 44
Nature Genetics, 44, 440-4, S1-2
Nature genetics
Paediatrics Publications

مصطلحات موضوعية: Male, Proband, PTOSIS, Developmental Disabilities, medicine.disease_cause, 0302 clinical medicine, Missense mutation, Child, Exome sequencing, Sequence Deletion, Genetics, 0303 health sciences, Mutation, Brain, Syndrome, Phenotype, Coloboma, GROWTH, Female, Adult, Adolescent, DNA Copy Number Variations, Molecular Sequence Data, Mutation, Missense, DNA-SEQUENCING DATA, NOONAN-SYNDROME, Biology, Nervous System Malformations, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, MALFORMATIONS, Amino Acid Sequence, Gene, Actin, 030304 developmental biology, ACTG1, Base Sequence, IDENTIFICATION, GAMMA-ACTIN, Sequence Analysis, DNA, Actins, IRIS COLOBOMA, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], BETA-ACTIN, PAX9 Transcription Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sequence Alignment, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: Electronic; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0138dd6e14fb3e0c15f66dbee60a92Test
https://hdl.handle.net/2066/110786Test

78

Increase in serum brain-derived neurotrophic factor in met allele carriers of the BDNF Val66Met polymorphism is specific to males

المؤلفون: Richard C. Oude Voshaar, Boudewijn A.A. Bus, Alejandro Arias-Vasquez, Jacqueline de Graaf, Barbara Franke, Jos Prickaerts

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, Faculteit Medische Wetenschappen/UMCG, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE)

المصدر: Neuropsychobiology, 65, 4, pp. 183-7
Neuropsychobiology, 65, 183-7
Neuropsychobiology, 65(4), 183-187. S. Karger AG
Neuropsychobiology, 65(4), 183-187. KARGER

مصطلحات موضوعية: Male, Serum, medicine.medical_specialty, STRESS, Genotype, DCN MP - Plasticity and memory, Val66met polymorphism, DCN PAC - Perception action and control, Mental health [NCEBP 9], Community Health Planning, Brain-derived neurotrophic factor, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Sex interaction, Methionine, Val66Met, Neurotrophic factors, Internal medicine, medicine, Humans, Allele, Alleles, Health aging / healthy living Cardiovascular diseases [IGMD 5], Biological Psychiatry, Depression (differential diagnoses), Aged, Genetic association, Genetics, Sex Characteristics, Chi-Square Distribution, Polymorphism, Genetic, Valine, Middle Aged, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], DEPRESSION, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Endocrinology, Female, Psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0221bdb9a99a8dbd795926d56b5e9c76Test
https://doi.org/10.1159/000336997Test

79

The dopamine receptor D4 7-repeat allele influences neurocognitive functioning, but this effect is moderated by age and ADHD status: An exploratory study

المؤلفون: Altink, M.E., Rommelse, N.N.J., Slaats-Willemse, D.I.E., Vasquez, A.A., Franke, B., Buschgens, C., Fliers, E.A., Faraone, S.V., Sergeant, J.A., Oosterkamp, T.H., Oosterlaan, J., Buitelaar, J.K.

المساهمون: Other departments, Clinical Neuropsychology

المصدر: World Journal of Biological Psychiatry, 13, 4, pp. 293-305
World Journal of Biological Psychiatry, 13, 293-305
world journal of biological psychiatry, 13(4), 293-305. Taylor and Francis Ltd.
Altink, M E, Rommelse, N N J, Slaats-Willemse, D I E, Vasquez, A A, Franke, B, Buschgens, C, Fliers, E A, Faraone, S V, Sergeant, J A, Oosterkamp, T H, Oosterlaan, J & Buitelaar, J K 2012, ' The dopamine receptor D4 7-repeat allele influences neurocognitive functioning, but this effect is moderated by age and ADHD status: An exploratory study ', World Journal of Biological Psychiatry, vol. 13, no. 4, pp. 293-305 . https://doi.org/10.3109/15622975.2011.595822Test
World Journal of Biological Psychiatry, 13(4), 293-305. Informa Healthcare
ResearcherID

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Minisatellite Repeats, DCN PAC - Perception action and control, Neuropsychological Tests, Mental health [NCEBP 9], Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Young Adult, Cognition, Gene Frequency, Neuroimaging, SDG 3 - Good Health and Well-being, mental disorders, medicine, Dopamine receptor D4, Humans, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, Allele, Child, Psychiatry, Biological Psychiatry, biology, Mechanism (biology), Siblings, Receptors, Dopamine D4, Age Factors, Neuropsychology, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Psychiatry and Mental health, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Preschool, Endophenotype, biology.protein, Female, Psychology, Neurocognitive

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950dc7932eef0799d9c048a4dc346026Test
https://doi.org/10.3109/15622975.2011.595822Test

80

[Criminology and victimology of rape in context with war-like conflicts using the example of the former Yugoslavia and Rwanda]

المؤلفون: Nittmann, C., Franke, B., Augustin, C., Puschel, K.

المصدر: Archiv Fur Kriminologie, 230, 1-12
Archiv Fur Kriminologie, 230, 1-2, pp. 1-12

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::246da0ceb0db1b3383f203f78e9a1a15Test
https://hdl.handle.net/2066/110257Test

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