نتائج البحث - "genomic disorders"

1

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

المؤلفون: Hans van Bokhoven, Laurens A. M. H. Kirkels, Armaz Aschrafi, Joris Andrieux, Nikkie F.M. Olde Loohuis, Muriel Holder-Espinasse, Willy M. Nillesen, Aron Kos, Rolph Pfundt, Hanneke Rensen, Mathilde Mastebroek, Willemijn M. Wissink-Lindhout, Astrid Vallès, Marjolein C Coppens-Hofman, Ben C.J. Hamel, Marjolein H. Willemsen, Louis Vallée, Tjitske Kleefstra, Arjan P.M. de Brouwer

المساهمون: Cognitive Neuroscience, RS: FPN CN 3

المصدر: Journal of Medical Genetics; Vol 48
Journal of Medical Genetics, 48, 12, pp. 810-818
Journal of Medical Genetics, 48, 810-818
Journal of Medical Genetics, 48(12), 810-818. BMJ Publishing Group

مصطلحات موضوعية: Male, Gene Dosage, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Hippocampus, Dihydropyrimidine dehydrogenase deficiency, 0302 clinical medicine, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Genetics, Neurons, 0303 health sciences, Molecular Animal Physiology, Polycomb Repressive Complex 2, Phenotype, DNA-Binding Proteins, Chromosomes, Human, Pair 1, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, DNA Copy Number Variations, Primary Cell Culture, Kruppel-Like Transcription Factors, Biology, Transfection, Gene dosage, Polymorphism, Single Nucleotide, 03 medical and health sciences, Kruppel-Like Factor 4, Intellectual Disability, Dihydropyrimidine dehydrogenase, medicine, Animals, Humans, Enhancer of Zeste Homolog 2 Protein, Enhancer, Gene, Dihydrouracil Dehydrogenase (NADP), 030304 developmental biology, Microphthalmia-Associated Transcription Factor, medicine.disease, Rats, MicroRNAs, Gene Expression Regulation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Cancer research, DPYD, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72ab48db64a60d98e9fbe9130c4b8b0Test

2

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

المؤلفون: N Janssen, Robert M.W. Hofstra, Marjolijn C.J. Jongmans, Jorieke E. H. Bergman, Lies H. Hoefsloot, C.M.A. van Ravenswaaij-Arts

المساهمون: University Medical Centre Groningen, University of Groningen, Groningen, Radboud University Medical Center [Nijmegen]

المصدر: Journal of Medical Genetics, 48, 334-42
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (5), pp.334. ⟨10.1136/jmg.2010.087106⟩
Journal of Medical Genetics, 48, 5, pp. 334-42

مصطلحات موضوعية: medicine.medical_specialty, Kallmann syndrome, Genetic screening/counselling, Choanal atresia, Bioinformatics, COLOBOMA, MULTIPLE ANOMALIES, Genomic disorders and inherited multi-system disorders [IGMD 3], CHARGE syndrome, Molecular genetics, Internal medicine, KALLMANN-SYNDROME, Genotype, Genetics, medicine, DiGeorge Syndrome, otorhinolaryngologic diseases, Outpatient clinic, Humans, HYPOGONADOTROPIC HYPOGONADISM, Clinical genetics, CHOANAL ATRESIA, Genetics (clinical), SPECTRUM, Coloboma, NEURAL CREST, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, DNA Helicases, ASSOCIATION, Kallmann Syndrome, medicine.disease, GENE, CONGENITAL HEART-DISEASE, DNA-Binding Proteins, Endocrinology, Phenotype, Mutation, Medical genetics, CHARGE Syndrome, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f12c3c70e0982473d2e777cb128fb5fTest
https://doi.org/10.1136/jmg.2010.087106Test

3

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

المؤلفون: M. Batbayli, L.L. Thomsen, Richard J. Rodenburg, Flemming Wibrand, Elsebet Ostergaard, Morten Duno, M.A.M. van den Brand, Leo G.J. Nijtmans

المصدر: Journal of Medical Genetics, 48, 737-40
Journal of Medical Genetics, 48, 11, pp. 737-40

مصطلحات موضوعية: NDUFA12, Candidate gene, Blotting, Western, DNA Mutational Analysis, Biology, medicine.disease_cause, Electron Transport, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Consanguinity, Western blot, Basal ganglia, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Mutation, Electron Transport Complex I, medicine.diagnostic_test, Muscles, Genetic Complementation Test, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Fibroblasts, Molecular biology, Respiratory chain complex I, Mitochondria, Complementation, Codon, Nonsense, Female, Leigh Disease, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f1050009957ae49a937dadf4a3a1adTest
https://doi.org/10.1136/jmg.2011.088856Test

4

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

المؤلفون: Anna E. Martinez, Hans Scheffer, Lu Liu, Robert M.W. Hofstra, Patricia J.C. Dopping-Hepenstal, Anthonie J. van Essen, Jemima E. Mellerio, Peter C. van den Akker, Marcel F. Jonkman, John A. McGrath, Rowdy Meijer

المساهمون: University Medical Center Groningen [Groningen] (UMCG), St John's Institute of Dermatology, Great Ormond Street Hospital for Children [London] (GOSH), Radboud University Medical Center [Nijmegen], Department of Human Genetics [Nijmegen], Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Translational Immunology Groningen (TRIGR)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.160. ⟨10.1136/jmg.2010.082230⟩
JOURNAL OF MEDICAL GENETICS, 48(3), 160-167. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 3, pp. 160-7
Journal of Medical Genetics, 48, 160-7

مصطلحات موضوعية: Collagen Type VII, TRIPLE-HELIX, Adolescent, Genotype, TRANSGLUTAMINASE-1, Arginine, Bathing suit ichthyosis, Glycine, Mutation, Missense, Genes, Recessive, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Dermatology, Biology, medicine.disease_cause, Cohort Studies, Anchoring fibrils, Genetics, medicine, Humans, Missense mutation, Clinical genetics, Child, Genetic Association Studies, Genetics (clinical), Skin, Mutation, Splice site mutation, IDENTIFICATION, MOLECULAR-MECHANISMS, COL7A1 GENE, Infant, ANCHORING FIBRILS, Phenotype, Epidermolysis Bullosa Dystrophica, RECURRENT MUTATIONS, Amino Acid Substitution, Child, Preschool, BATHING SUIT ICHTHYOSIS, PHENOTYPE-GENOTYPE CORRELATIONS, SPLICE-SITE MUTATION

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce681ef6e80ccf9e9cb898b882d8b2Test
https://doi.org/10.1136/jmg.2010.082230Test

5

Genotype-phenotype correlations in L1 syndrome

المؤلفون: Ben C.J. Hamel, Yvonne J. Vos, Nicolette S. den Hollander, Mariet W. Elting, Jenneke A. Stegeman, Merel C. van Maarle, Ana Maria Fortuna, Lone Sunde, Irene Stolte-Dijkstra, Hermien E. K. de Walle, Annelies M. ten Berge, Martijn Bruining, Connie Schrander-Stumpel, Robert M.W. Hofstra, Krista K. Bos

المساهمون: Faculteit der Geneeskunde, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Other Research, Human Genetics, Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Journal of Medical Genetics, 47(3), 169-175. BMJ Publishing Group
Journal of Medical Genetics, 47, 169-75
Journal of medical genetics, 47(3), 169-175. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47(3), 169-75
Journal of Medical Genetics, 47, 3, pp. 169-75
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, Ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L, Stolte-Dijkstra, I, Schrander-Stumpel, C T R M & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-75 . https://doi.org/10.1136/jmg.2009.071688Test
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L E M, Stolte-Dijkstra, I, Schrander-Stumpel, C & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-175 . https://doi.org/10.1136/jmg.2009.071688Test

مصطلحات موضوعية: Male, Oncology, EXPRESSION, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Genetic Counseling, Neural Cell Adhesion Molecule L1, Germline mosaicism, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Germline mutation, MISSENSE MUTATION, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, L1CAM GENE, PRENATAL-DIAGNOSIS, Child, L1 syndrome, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Base Sequence, Mosaicism, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Syndrome, NEPHROGENIC DIABETES-INSIPIDUS, MASA-SYNDROME, Child, Preschool, CELL-ADHESION MOLECULE, Practice Guidelines as Topic, Mutation (genetic algorithm), COMPLICATED SPASTIC PARAPLEGIA, HIRSCHSPRUNGS-DISEASE, Mutation testing, X-LINKED HYDROCEPHALUS, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6cb42a30581e42d1412d9c36349978Test
https://doi.org/10.1136/jmg.2009.071688Test

6

Development of a genotyping microarray for Usher syndrome

المساهمون: Cremers, Fp, Kimberling, Wj, Kulm, M, DE BROUWER, A, VAN WIJK, E, TE BRINKE, H, Cremers, Cw, Hoefsloot, Lh, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Jc, Berger, W, Kelley, Pm, Haralambous, E, BITNER GLINDZICZ, M, Webster, Ar, Saihan, Z, DE BAERE, E, Leroy, Bp, Silvestri, G, Mckay, G, Koenekoop, Rk, Millan, Jm, Rosenberg, T, Joensuu, T, Sankila, Em, Weil, D, Weston, Md, Wissinger, B, Kremer, H.

المصدر: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Medical Genetics, 44, 153-60
Journal of Medical Genetics, 44, 2, pp. 153-60

مصطلحات موضوعية: RECESSIVE RETINITIS-PIGMENTOSA, Microarray, Genetics and epigenetic pathways of disease [NCMLS 6], Genotype, Hearing loss, Usher syndrome, LEBER CONGENITAL AMAUROSIS, Biology, USH2A GENE, EAR SENSORY CELLS, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, SYNDROME TYPE 1F, MUTATION DETECTION, SYNDROME-TYPE-II, Retinitis pigmentosa, Genetics, medicine, Medicine and Health Sciences, Perception and Action [DCN 1], otorhinolaryngologic diseases, Neurosensory disorders [UMCN 3.3], Humans, Genotyping, Genetics (clinical), 030304 developmental biology, DNA Primers, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Genetic heterogeneity, HEARING-LOSS, 030305 genetics & heredity, Genetic Variation, DNA, medicine.disease, ARRAYED PRIMER EXTENSION, eye diseases, 3. Good health, MYOSIN VIIA GENE, Europe, Genetic defects of metabolism [UMCN 5.1], sense organs, medicine.symptom, Functional Neurogenomics [DCN 2], Usher Syndromes, PCDH15, Letter to JMG

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1907102e04096faab331e49feaf22c1Test
https://hdl.handle.net/2066/52397Test

7

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

المصدر: Journal of Medical Genetics, 50, 507-14
Journal of Medical Genetics, 50, 8, pp. 507-14

مصطلحات موضوعية: DNA Copy Number Variations, GATA zinc finger, Molecular Sequence Data, Biology, GATA Transcription Factors, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Loss function, Exome sequencing, 030304 developmental biology, Renal disorder [IGMD 9], Sanger sequencing, Neurons, 0303 health sciences, Base Sequence, Learning Disabilities, Effective primary care and public health [NCEBP 7], Syndrome, medicine.disease, Phenotype, Hypotonia, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Repressor Proteins, GATAD2B, Mutation, Synapses, symbols, Drosophila, Female, medicine.symptom, Chromosome Deletion, 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___::a93051e969dc12d65297d1317040adeaTest
https://pubmed.ncbi.nlm.nih.gov/23644463Test

8

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

المؤلفون: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

المساهمون: Clinical sciences, Medical Genetics, Faculty of Law and Criminology

المصدر: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline mosaicism, Choanal atresia, medicine.disease_cause, CHARGE syndrome, Central Nervous System Diseases, Perception and Action [DCN 1], Heart, lung and circulation [UMCN 2.1], Child, Genetics (clinical), Genetics, Coloboma, Mutation, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Functional imaging [IGMD 1], Central Nervous System Diseases/diagnosis, syndrome, Major gene, Hypoplasia, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Spinal Diseases, Original Article, Female, Spinal Diseases/diagnosis, Functional Neurogenomics [DCN 2], Heart Defects, Congenital, Adult, Abnormalities, Multiple/diagnosis, Adolescent, Child, preschool, Choanal Atresia/diagnosis, Coloboma/diagnosis, Vestibular Diseases/diagnosis, Gestational Age, Biology, Choanal Atresia, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Mouth Diseases/diagnosis, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], DNA Helicases/genetics, DNA Helicases, Infant, Newborn, Infant, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Heart Defects, Congenital/diagnosis, mutation, Mouth Diseases, DNA-Binding Proteins/genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1fa8fcdb77f66933f35bb3288d610fTest
https://doi.org/10.1136/jmg.2005.036061Test

9

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

المؤلفون: Jayne Y. Hehir-Kwa, Nicole de Leeuw, B. Rodriguez-Santiago, Rolph Pfundt, Lisenka E.L.M. Vissers, Jan K. Buitelaar, Joris A. Veltman, Luis A. Pérez-Jurado

المصدر: Journal of Medical Genetics, 48, 11, pp. 776-8
Journal of Medical Genetics, 48, 776-8

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Gene Dosage, Perception and Actions Mental Health [DCN 1], Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Gene dosage, Paternal Age, Cohort Studies, Segmental Duplications, Genomic, Sex Factors, Polymorphism (computer science), Intellectual Disability, Molecular genetics, mental disorders, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Allele, Spermatogenesis, Alleles, Genetics (clinical), Netherlands, Oligonucleotide Array Sequence Analysis, Segmental duplication, medicine.disease, 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___::05922609c351d0196b68b74e114cd4f8Test
https://doi.org/10.1136/jmedgenet-2011-100147Test

10

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

المؤلفون: Sascha Vermeer, B W M van Bon, Carlo M. Marcelis, R. Pfundt, N. de Leeuw, A.P.M. de Brouwer, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries

المصدر: Journal of Medical Genetics, 46, 421-3
Journal of Medical Genetics, 46, 6, pp. 421-3

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b52b6c2b94737ce25516402737c63cTest
https://doi.org/10.1136/jmg.2009.066910Test

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