نتائج البحث - "genomic disorders"

1

Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81

مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test

2

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

3

Prenatal coverage of experimental gastroschisis with a collagen scaffold to protect the bowel

المؤلفون: Roelofs, Luc A. J., Geutjes, Paul J., Hulsbergen-van de Kaa, Christina A., Eggink, Alex J., van Kuppevelt, Toin H., Daamen, Willeke F., Crevels, A. Jane, van den Berg, Paul P., Feitz, Wout F. J., Wijnen, Rene M. H., Hulsbergen-van de Kaa, CA

المساهمون: Science in Healthy Ageing & healthcaRE (SHARE), Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics & Gynecology, Pediatric Surgery

المصدر: Journal of Pediatric Surgery, 48(3), 516-524. W B SAUNDERS CO-ELSEVIER INC
Journal of Pediatric Surgery, 48, 516-24
Journal of Pediatric Surgery, 48(3), 516-524. W.B. Saunders
Journal of Pediatric Surgery, 48, 3, pp. 516-24

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Amniotic fluid, medicine.medical_treatment, Connective tissue, INTESTINAL DAMAGE, AMNIOTIC-FLUID, Collagen scaffold, Genomic disorders and inherited multi-system disorders [IGMD 3], Abdominal wall, Peritoneal cavity, Fetus, Translational research [ONCOL 3], medicine, Animals, Tissue engineering and pathology Renal disorder [NCMLS 3], Tissue engineering, Pediatrics, Perinatology, and Child Health, Fetal surgery, Gastroschisis, REPAIR, Sheep, Tissue Scaffolds, business.industry, Abdominal wall defect, ABDOMINAL-WALL DEFECTS, General Medicine, Tissue engineering and pathology [NCMLS 3], medicine.disease, MECONIUM, SHEEP MODEL, Surgery, ETIOLOGY, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female, Collagen, BIOMATRIX, business, Type I collagen, MATRICES

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94a02e2a798598ced20ad4c1183e567Test
https://hdl.handle.net/11370/94d4161b-8603-4f94-928d-394ec858da70Test

4

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

5

Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

المؤلفون: Tilanus-Linthorst, M.M., Lingsma, H.F., Evans, D.G., Thompson, D., Kaas, R., Manders, P., Asperen, C.J. van, Adank, M., Hooning, M.J., Lim, G.E. Kwan, Oosterwijk, J.C., Leach, M.O., Steyerberg, E.W.

المصدر: International Journal of Cancer, 133, 1, pp. 156-63
International Journal of Cancer, 133, 156-63

مصطلحات موضوعية: Translational research [ONCOL 3], Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9709bd39a0ce3524fb51000df5c773f1Test
https://doi.org/10.1002/ijc.28014Test

6

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative

المؤلفون: J.H.J.M. van Krieken, Han G. Brunner, Nicoline Hoogerbrugge, Judith B. Prins, P. van Duijvendijk, Fokko M. Nagengast, K. M. Landsbergen, Marjolijn J L Ligtenberg

المصدر: Familial Cancer
Familial Cancer, 11, 2, pp. 259-67
Familial Cancer, 11, 259-67

مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Pathology, Genetic testing, Colorectal cancer, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Psychological distress, Quality of Care [ONCOL 4], Translational research [ONCOL 3], Epidemiology, Genetics, medicine, Humans, Hereditary cancer and cancer-related syndromes Molecular epidemiology [ONCOL 1], Genetics(clinical), Prospective Studies, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Prospective cohort study, neoplasms, Genetics (clinical), Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], medicine.diagnostic_test, business.industry, Microsatellite instability, Social Support, Guideline, Middle Aged, medicine.disease, Translational research Tissue engineering and pathology [ONCOL 3], Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, digestive system diseases, Psychological determinants of chronic illness Quality of Care [NCEBP 8], Hereditary cancer, Distress, Oncology, Original Article, Female, Microsatellite Instability, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Microsatellite instability testing, Colorectal Neoplasms, Stress, Psychological

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59754de2416225250d6e68056fd4c7dTest
http://europepmc.org/articles/PMC3365237Test

7

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

المساهمون: Groningen Kidney Center (GKC), Groningen Institute for Organ Transplantation (GIOT)

المصدر: American Journal of Human Genetics, 89, 5, pp. 634-43
American Journal of Human Genetics, 89, 634-43
The American Journal of Human Genetics; Vol 89
American Journal of Human Genetics, 89(5), 634-643. CELL PRESS

مصطلحات موضوعية: Male, RIB-POLYDACTYLY SYNDROME, Genetics and epigenetic pathways of disease [NCMLS 6], PROTEIN, Ciliopathies, Craniofacial Abnormalities, Ectodermal Dysplasia, Genetics(clinical), Exome, Child, Genetics (clinical), Exome sequencing, Netherlands, Oligonucleotide Array Sequence Analysis, BARDET-BIEDL-SYNDROME, Genetics, 0303 health sciences, Polycystic Kidney Diseases, Norway, Cilium, 030305 genetics & heredity, Intracellular Signaling Peptides and Proteins, CRANIOECTODERMAL DYSPLASIA, DEFECTS, NEPHRONOPHTHISIS, 3. Good health, Pedigree, Sensenbrenner syndrome, Morocco, INTRAFLAGELLAR TRANSPORT, Flagella, Female, SENSENBRENNER-SYNDROME, Adult, Adolescent, Molecular Sequence Data, Mutation, Missense, PRIMARY CILIA, Biology, Short Rib-Polydactyly Syndrome, 03 medical and health sciences, Young Adult, Bardet–Biedl syndrome, Thoracic Diseases, Nephronophthisis, Intraflagellar transport, Translational research [ONCOL 3], Report, medicine, Humans, Cilia, 030304 developmental biology, Proteins, ASPHYXIATING THORACIC DYSTROPHY, Fibroblasts, medicine.disease, Cytoskeletal Proteins, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8e665acd0725f98f3168560340a2bbTest
https://doi.org/10.1016/j.ajhg.2011.10.001Test

8

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

المؤلفون: Tsun Leung Chan, Eugène T P Verwiel, Irma Kluijt, Diana Eccles, Rolf H. Sijmons, Egbert J.W. Redeker, Rachel S. van der Post, Encarna B. Gomez Garcia, Reinhard Büttner, Cora M. Aalfs, Roland P. Kuiper, Johan J.P. Gille, Bernadette P M van Nesselrooij, Frans B. L. Hogervorst, Marjolijn J L Ligtenberg, Tracy Graham, Julie O. Culver, Edith Olah, Monique Goossens, Carli M. J. Tops, Elke Holinski-Feder, David J. Bunyan, Marielle E. van Gijn, Frederik J. Hes, Suet Yi Leung, Pierre O. Chappuis, Monika Morak, Edward M Leter, Nils Rahner, Lea Velsher, János Papp, Renee C. Niessen, J. Han van Krieken, Lambertus A. Kiemeney, Ad Geurts van Kessel, Charlotte W. Ockeloen, Nicoline Hoogerbrugge, Marlies Kempers, Iris D. Nagtegaal, Verena Steinke, Hans K. Schackert, Matthias Kloor, Melanie R. Palomares, Sapna Syngal, Pierre Hutter, Elena M. Stoffel

المساهمون: Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Clinical sciences, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human genetics, CCA - Oncogenesis

المصدر: Kempers, M J E, Kuiper, R P, Ockeloen, C W, Chappuis, P O, Hutter, P, Rahner, N, Schackert, H K, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buttner, R, Verwiel, E T P, van Krieken, J H, Nagtegaal, I D, Goossens, M, van der Post, R S, Niessen, R C, Sijmons, RH, Kluijt, I, Hogervorst, F B L, Leter, E M, Gille, J J P, Aalfs, C M, Redeker, E J W, Hes, F J, Tops, C M J, van Nesselrooij, B P M, van Gijn, M E, Garcia, E B G, Eccles, D M, Bunyan, D J, Syngal, S, Stoffel, E M, Culver, J O, Palomares, M R, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, T L, Leung, S Y, van Kessel, A G, Kiemeney, L A L M, Hoogerbrugge, N & Ligtenberg, M J L 2011, ' Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study ', Lancet Oncology, vol. 12, no. 1, pp. 49-55 . https://doi.org/10.1016/S1470-2045Test(10)70265-5
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group

مصطلحات موضوعية: Male, Oncology, Genetics and epigenetic pathways of disease [NCMLS 6], REPAIR GENE HMSH2, Colorectal cancer, FAMILIES, chemistry.chemical_compound, Promoter Regions, Genetic, Colorectal Neoplasms/etiology, risk, Sequence Deletion, Medicine(all), METHYLATION, Epithelial cell adhesion molecule, Middle Aged, Epithelial Cell Adhesion Molecule, Translational research Tissue engineering and pathology [ONCOL 3], Lynch syndrome, Antigens, Neoplasm/genetics, Endometrial Neoplasms/etiology, MutS Homolog 2 Protein, Cohort studies, Female, Duodenal cancer, Colorectal Neoplasms, Cell Adhesion Molecules/genetics, STEM-CELLS, MutS Homolog 2 Protein/genetics, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, TACSTD1, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], MUTATION CARRIERS, MLH1, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Antigens, Neoplasm, Translational research [ONCOL 3], Internal medicine, SURVEILLANCE, medicine, MANAGEMENT, Humans, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], neoplasms, Aged, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Gynecology, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Endometrial cancer, Cancer, nutritional and metabolic diseases, medicine.disease, HYPERMETHYLATION, digestive system diseases, Endometrial Neoplasms, MSH2, MSH6, chemistry, business, Cell Adhesion Molecules, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f4a39c0f97e31d38f52cdcda56a8a1Test
https://hdl.handle.net/2066/97324Test

9

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death

المؤلفون: Gursah Kats-Ugurlu, Christina A. Hulsbergen-van de Kaa, Ans M.W. van den Ouweland, Ann Driessen, Marije Hogeveen

المساهمون: Pathologie, RS: GROW - School for Oncology and Reproduction, Clinical Genetics

المصدر: European Journal of Pediatrics
European Journal of Pediatrics, 170(1), 103-106. Springer, Cham
European Journal of Pediatrics, 170(1), 103-106. Springer-Verlag
European Journal of Pediatrics, 170, 1, pp. 103-6
European Journal of Pediatrics, 170, 103-6

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Autopsy, Serpin, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Alpha-1-antitrypsin, Fatal Outcome, Cholestasis, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], alpha 1-Antitrypsin Deficiency, Neonatal, medicine, Humans, Pediatrics, Perinatology, and Child Health, Pathological, Hepatitis, Original Paper, Alpha 1-antitrypsin deficiency, business.industry, Genetic disorder, Infant, Newborn, Functional imaging [IGMD 1], medicine.disease, Death, Pediatrics, Perinatology and Child Health, Deficiency, Differential diagnosis, business, Intracranial Hemorrhages, Hepatomegaly

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae96bb0ab569b990147d113df654698Test
https://doi.org/10.1007/s00431-010-1280-xTest

10

Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial

المؤلفون: L I, Overbeek, R P, Hermens, J H, van Krieken, E M, Adang, M, Casparie, F M, Nagengast, M J, Ligtenberg, N, Hoogerbrugge, R P, Akkermans

المصدر: Virchows Archiv, 456, 653-9
Virchows Archiv, 456, 6, pp. 653-9
Virchows Archiv

مصطلحات موضوعية: Risk, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], Reminder Systems, Genetic counseling, HNPCC, Bethesda criteria, Aetiology, screening and detection [ONCOL 5], Quality of Care [ONCOL 4], Pathology and Forensic Medicine, law.invention, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Randomized controlled trial, Translational research [ONCOL 3], law, Internal medicine, Pathology, medicine, Humans, MSI testing, Cluster randomised controlled trial, Molecular gastro-enterology and hepatology [IGMD 2], Risk factor, Family history, Molecular Biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Cell Biology, General Medicine, Odds ratio, Guideline, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, digestive system diseases, Lynch syndrome, Surgery, Practice Guidelines as Topic, Microsatellite Instability, Original Article, Colorectal Neoplasms, Quality of hospital and integrated care [NCEBP 4], business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad8c76cf855ec5b27145ebde0274bf1Test
https://doi.org/10.1007/s00428-010-0907-7Test

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