نتائج البحث - "genomic disorders"

1

Genome diversity and instability in human germ cells and preimplantation embryos

المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla

المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test

2

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

المؤلفون: Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina

المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92Test
https://doi.org/10.1016/j.omtm.2020.01.003Test

3

Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa

المؤلفون: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes

المساهمون: Immunology, Ophthalmology

المصدر: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705

مصطلحات موضوعية: Adult, Male, Proband, Oncology, medicine.medical_specialty, Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Visual Acuity, Mevalonic Acid, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Fluorescein Angiography, Exome sequencing, Mevalonate kinase deficiency, biology, business.industry, Genetic heterogeneity, Mevalonate kinase, Middle Aged, medicine.disease, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, Mutation, biology.protein, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Retinitis Pigmentosa, Tomography, Optical Coherence

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17Test
https://doi.org/10.1016/j.ophtha.2013.07.052Test

4

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome

المؤلفون: Ad R. M. M. Hermus, K. Freriks, Hanneke Mieloo, Maaike A.F. Traas, Henri J L M Timmers, Dominique Smeets, Romana T. Netea-Maier, Janiëlle A E M van Alfen-van der Velden, Barto J. Otten, Catharina C. M. Beerendonk, Guillaume van de Zande, Lies H. Hoefsloot

المصدر: European Journal of Medical Genetics, 56, 9, pp. 497-501
European Journal of Medical Genetics, 56, 497-501

مصطلحات موضوعية: Adult, Monosomy, Pathology, medicine.medical_specialty, Buccal swab, Turner Syndrome, Gonadoblastoma, Biology, Real-Time Polymerase Chain Reaction, Y chromosome, Genomic disorders and inherited multi-system disorders [IGMD 3], Turner syndrome, Tissue mosaicism, Genetics, medicine, Humans, Hormonal regulation Translational research [IGMD 6], Genetic Predisposition to Disease, Lymphocytes, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Ovarian Neoplasms, Chromosomes, Human, X, Chromosomes, Human, Y, Mosaicism, Hormonal regulation [IGMD 6], Mouth Mucosa, Karyotype, General Medicine, medicine.disease, Human Reproduction [NCEBP 12], Female, 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___::116177bcd37fd78bae5eb92f1fd873efTest
https://doi.org/10.1016/j.ejmg.2013.07.008Test

5

Short-Term Changes of Basal Laminar Drusen on Spectral-Domain Optical Coherence Tomography

المؤلفون: Camiel J. F. Boon, Thomas Theelen, Yara T. E. Lechanteur, Dzenita Smailhodzic, Carel B. Hoyng, Johannes P. H. van de Ven, Anneke I. den Hollander

المصدر: American Journal of Ophthalmology, 154, 3, pp. 560-7
American Journal of Ophthalmology, 154, 560-7

مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Visual Acuity, Retinal Drusen, Spectral domain, Retinal Pigment Epithelium, Drusen, Evaluation of complex medical interventions Functional imaging [NCEBP 2], Basement Membrane, Optics, Optical coherence tomography, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Ophthalmology, Odds Ratio, Humans, Medicine, Prospective Studies, Prospective cohort study, Aged, Aged, 80 and over, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Odds ratio, Middle Aged, medicine.disease, eye diseases, Confidence interval, Extracellular Matrix, Phenotype, medicine.anatomical_structure, Basal Laminar Drusen, Female, Bruch Membrane, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b699448957048b8c15d0f5c46866ce35Test
https://doi.org/10.1016/j.ajo.2012.03.012Test

6

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

المؤلفون: Ernie M.H.F. Bongers, Rolph Pfundt, Marjolijn C.J. Jongmans, Eugène T P Verwiel, Koen L.I. van Gassen, Eveline J. Kamping, Yvonne F. Heijdra, Roland P. Kuiper, Frank N. van Leeuwen, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Tom Vulliamy, Jayne Y. Hehir-Kwa, Marjolijn J L Ligtenberg, Liesbeth van Emst, Inderjeet Dokal

المصدر: American Journal of Human Genetics, 90, 426-33
American Journal of Human Genetics, 90, 3, pp. 426-33

مصطلحات موضوعية: Male, Telomerase, Germline, Cohort Studies, Genetics(clinical), Child, Genetics (clinical), Renal disorder [IGMD 9], Genetics, Recombination, Genetic, Mosaicism, Homozygote, Middle Aged, Age-related aspects of cancer Immune Regulation [ONCOL 2], Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Child, Preschool, Female, Adult, Mitotic crossover, Adolescent, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Mitosis, Biology, Polymorphism, Single Nucleotide, Dyskeratosis Congenita, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Telomerase RNA component, Young Adult, Germline mutation, Translational research [ONCOL 3], medicine, Humans, Cell Lineage, Allele, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Alleles, Germ-Line Mutation, Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], Chromosome, Sequence Analysis, DNA, medicine.disease, Molecular biology, RNA, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Dyskeratosis congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f601ddb4f5674f953d3c22b0ecc29Test

7

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

المؤلفون: Erik-Jan Kamsteeg, Vítor Tedim Cruz, Ruth Geraldes, Paula Coutinho, Jorge Pinto-Basto, Georgina Neves, Ana Margarida Lopes, Han G. Brunner, Pureza Dias, Eva Brandão, Jorge Sequeiros, Isabel Pavão Martins, Isabel Alonso, Maria Conceição Pereira, José Leal Loureiro

المصدر: Genetics in Medicine, 14, 1, pp. 143-51
Genetics in Medicine, 14, 143-51

مصطلحات موضوعية: Adult, Male, Genome evolution, Adolescent, Genotype, Hereditary spastic paraplegia, Molecular Sequence Data, Alu element, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Chromosome Breakpoints, Young Adult, Exon, Alu Elements, Gene Order, Spastic, medicine, Humans, Amino Acid Sequence, Allele, Child, Alleles, Genetics (clinical), Sequence Deletion, Genetics, Base Sequence, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Infant, Proteins, Exons, Middle Aged, medicine.disease, Pedigree, nervous system diseases, Child, Preschool, Mutation, Female, 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___::ee1673c4a78ebefb8ad3cc7e21bb613cTest
https://doi.org/10.1038/gim.2011.7Test

8

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

المؤلفون: Connie A. Myers, Ron Bose, Carel B. Hoyng, Avigail Beryozkin, Joseph C. Corbo, B. Jeroen Klevering, Frans P.M. Cremers, Wei Shen, Anneke I. den Hollander, Rıza Köksal Özgül, Eyal Banin, Rob W.J. Collin, L. Ingeborgh van den Born, Marijke N. Zonneveld, Anna M. Siemiatkowska, Didem Yücel, Dror Sharon

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: American Journal of Human Genetics, 89, 253-64
American Journal of Human Genetics, 89, 2, pp. 253-64

مصطلحات موضوعية: Adult, Male, Rhodopsin, Candidate gene, Transcription, Genetic, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Nonsense mutation, Genes, Recessive, Protein Serine-Threonine Kinases, Regulatory Sequences, Nucleic Acid, Biology, medicine.disease_cause, Article, Mice, Young Adult, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Cilia, Kinase activity, Exome, Genetics (clinical), Exome sequencing, Genetics & Heredity, Homeodomain Proteins, Mutation, Genetic heterogeneity, Chromosome Mapping, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Genetic Loci, Trans-Activators, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Retinitis Pigmentosa, Photoreceptor Cells, Vertebrate

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22f5cbf812e880ac4cc79f09be56cacTest
https://doi.org/10.1016/j.ajhg.2011.07.005Test

9

Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells

المؤلفون: Thea J A M van der Velden, Martijn J. Wilmer, Rosalinde Masereeuw, Elena Levtchenko, Leo A. H. Monnens, Leo A. J. Kluijtmans, Peter G. Scheffer, Lambertus P. van den Heuvel, Peter H.G.M. Willems

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 643-51
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010Test
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812

مصطلحات موضوعية: Male, Cystinosis, 030232 urology & nephrology, medicine.disease_cause, Kidney Tubules, Proximal, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Child, Cells, Cultured, Renal disorder [IGMD 9], 0303 health sciences, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Functional imaging [IGMD 1], Glutathione, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], ATP production, Redox status, Cystinosin, Child, Preschool, Molecular Medicine, Female, Oxidation-Reduction, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Adolescent, Cysteamine, Cystine, Renal disorder Energy and redox metabolism [IGMD 9], End stage renal disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, Cell Proliferation, Infant, Epithelial Cells, medicine.disease, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, chemistry, Oxidative stress, Reactive Oxygen Species

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0affcf2f136725a5944fb82906ded065Test

10

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

تنقيح النتائج