Search Results - "Wessex Classification Subject Headings::Oncology. Pathology.::Genetics"

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Authors: Panayiotis Constantinou Matthew E. Hurles Ddd Study et al.

Contributors: Panayiotis Constantinou Matthew E. Hurles Ddd Study et al.

Source: Genet Med

Subject Terms: 0301 basic medicine, 0303 health sciences, variant interpretation, reanalysis, Brief Communication, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, 03 medical and health sciences, genomic medicine, Gene Frequency, Databases, Genetic, Exome Sequencing, Humans, developmental disorders, Exome, exome sequencing

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Access URL: https://www.nature.com/articles/s41436-020-01021-9.pdf
https://pubmed.ncbi.nlm.nih.gov/33149276
https://europepmc.org/article/PMC/PMC7935711
https://www.nature.com/articles/s41436-020-01021-9
https://www.ncbi.nlm.nih.gov/pubmed/33149276
https://www.nature.com/articles/s41436-020-01021-9.pdf
https://pubmed.ncbi.nlm.nih.gov/33149276/

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Authors: Judy Kirk Lesley Andrews Jan C. Oosterwijk et al.

Contributors: Judy Kirk Lesley Andrews Jan C. Oosterwijk et al.

Source: Eur Urol
EUROPEAN UROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
The IMPACT Study Collaborators 2019, 'Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers', European Urology, vol. 76, no. 6, pp. 831-842. https://doi.org/10.1016/j.eururo.2019.08.019
European Urology, 76, 6, pp. 831-842
Page, E C, Bancroft, E K, Brook, M N, Assel, M, Hassan Al Battat, M, Thomas, S, Taylor, N, Chamberlain, A, Pope, J, Raghallaigh, H N, Evans, D G, Rothwell, J, Maehle, L, Grindedal, E M, James, P, Mascarenhas, L, McKinley, J, Side, L, Thomas, T, van Asperen, C, Vasen, H, Kiemeney, L A, Ringelberg, J, Jensen, T D, Osther, P J S, Helfand, B T, Genova, E, Oldenburg, R A, Cybulski, C, Wokolorczyk, D, Ong, K-R, Huber, C, Lam, J, Taylor, L, Salinas, M, Feliubadaló, L, Oosterwijk, J C, van Zelst-Stams, W, Cook, J, Rosario, D J, Domchek, S, Powers, J, Buys, S, O'Toole, K, Ausems, M G E M, Schmutzler, R K, Rhiem, K, Izatt, L, Johannsson, O, Rønlund, K & IMPACT Collaborators 2019, ' Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers ', European Urology, vol. 76, no. 6, pp. 831-842 . https://doi.org/10.1016/j.eururo.2019.08.019
IMPACT study collaborators 2019, 'Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers', European Urology. https://doi.org/10.1016/j.eururo.2019.08.019

Subject Terms: Male, PREDICTION, Targeted prostate screening, Genes, BRCA2, Genes, BRCA1, Prostate-specific-antigen, INCREASE, 0302 clinical medicine, EMC MM-03-49-01, Wessex Classification Subject Headings::Urology, Prospective Studies, Early Detection of Cancer, Prostate cancer, Gen, Genetic Carrier Screening, MEN, Middle Aged, OVARIAN, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, ERSPC, SURVIVAL, TRIAL, Kallikreins, IMPACT Study Collaborators, Health Evidence - Radboud University Medical Center, CANCER MORTALITY, Adult, Urology, Radboud University Medical Center, Blöðruhálskirtilskrabbamein, Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences, BREAST, Article, 03 medical and health sciences, Humans, Þvagfærasjúkdómar, Germ-Line Mutation, Aged, Càncer de pròstata, Mutació (Biologia), Prostatic Neoplasms, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences, Mutation (Biology), Prostate-Specific Antigen, BRCA1, BRCA2, Genes, Urology - Radboud University Medical Center

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Access URL: https://pubmed.ncbi.nlm.nih.gov/31537406
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2244
http://hdl.handle.net/2445/168079
https://hdl.handle.net/2445/168079
https://openaccess.sgul.ac.uk/id/eprint/111343/1/1-s2.0-S0302283819306682-main.pdf
https://research.manchester.ac.uk/en/publications/e42ab592-67e6-4253-bbbc-182e7d44730e
https://doi.org/10.1016/j.eururo.2019.08.019
https://repub.eur.nl/pub/122328/Repub_122328_O-A.pdf
http://diposit.ub.edu/dspace/handle/2445/168079
https://findresearcher.sdu.dk:8443/ws/files/156391067/Interim_Results_from_the_IMPACT_Study.pdf
http://mymedr.afpm.org.my/publications/75438
https://www.ncbi.nlm.nih.gov/pubmed/31537406
https://www.sciencedirect.com/science/article/abs/pii/S0302283819306682
https://research.vumc.nl/en/publications/5c61e76f-7a80-4b9d-9a4c-9cfbdf6abd74
https://hdl.handle.net/1887/122470
https://repository.ubn.ru.nl//bitstream/handle/2066/212399/212399.pdf
https://hdl.handle.net/2066/212399
https://ddd.uab.cat/record/286297
https://findresearcher.sdu.dk:8443/ws/files/156391067/Interim_Results_from_the_IMPACT_Study.pdf
https://hdl.handle.net/20.500.11815/1523
https://research.manchester.ac.uk/en/publications/e42ab592-67e6-4253-bbbc-182e7d44730e
https://doi.org/10.1016/j.eururo.2019.08.019
https://linkinghub.elsevier.com/retrieve/pii/S0302283819306682
https://eprints.soton.ac.uk/434345/

Time trends in prescribing of type 2 diabetes drugs, glycaemic response and risk factors: A retrospective analysis of primary care data, 2010–2017

Authors: John M. Dennis William E. Henley Andrew P. McGovern et al.

Source: Diabetes Obes Metab

Subject Terms: Blood Glucose, weight control, name=Internal Medicine, primary care, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Humans, Hypoglycemic Agents, Practice Patterns, Physicians', Retrospective Studies, Body Weight, SGLT2 inhibitor, Original Articles, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Hypoglycemia, 3. Good health, Diabetes and Metabolism, Wessex Classification Subject Headings::Endocrinology::Diabetes, glycaemic control, Diabetes Mellitus, Type 2, type 2 diabetes, name=Endocrinology, hypoglycaemia

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Access URL: https://pubmed.ncbi.nlm.nih.gov/30828962
https://eprints.gla.ac.uk/181722/1/181722.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1111/dom.13687
https://onlinelibrary.wiley.com/doi/10.1111/dom.13687
https://dom-pubs.onlinelibrary.wiley.com/doi/full/10.1111/dom.13687
https://pubmed.ncbi.nlm.nih.gov/30828962/
https://www.rdm.ox.ac.uk/publications/979280
https://ore.exeter.ac.uk/repository/bitstream/10871/36202/4/Dennis_et_al-2019-Diabetes%2c_Obesity_and_Metabolism.pdf
https://ora.ox.ac.uk/objects/uuid:cfc68b42-d4b2-46aa-99cf-87db4d6ee9e9
https://doi.org/10.1111/dom.13687

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Authors: Pagnamenta, A Kaisaki, P Bennett, F et al.

Source: Clin Genet
2019, 'Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome', Clinical Genetics, vol. 95, no. 6, pp. 693-703. https://doi.org/10.1111/cge.13533

Subject Terms: Male, 0301 basic medicine, Heterozygote, Adolescent, RAS-MAPK signalling, Genes, Recessive, Cohort Studies, 03 medical and health sciences, Noonan syndrome, Humans, Exome, Child, 10. No inequality, developmental disorder, Alleles, Genes, Dominant, 0303 health sciences, Noonan Syndrome, Infant, Original Articles, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Pedigree, 3. Good health, Gene Ontology, Phenotype, Child, Preschool, Mutation, Female, LZTR1, exome, Transcription Factors

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Access URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.13533
https://pubmed.ncbi.nlm.nih.gov/30859559
https://openaccess.sgul.ac.uk/id/eprint/111376/1/Pagnamenta_et_al-2019-Clinical_Genetics.pdf
https://www.ndm.ox.ac.uk/publications/983395
https://www.well.ox.ac.uk/publications/983395
https://europepmc.org/articles/PMC6563422
https://pubmed.ncbi.nlm.nih.gov/30859559/
https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13533
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563422
https://hdl.handle.net/1983/7ff8c00c-6a8b-411b-b40b-219cdfde9cc0
https://research-information.bris.ac.uk/en/publications/7ff8c00c-6a8b-411b-b40b-219cdfde9cc0

Mosaic Turner syndrome shows reduced penetrance in an adult population study

Authors: M.A. Tuke K.S. Ruth A.R. Wood et al.

Source: Genet Med
Genetics in Medicine

Subject Terms: 0301 basic medicine, Turner Syndrome, Penetrance, Trisomy, F100 - Chemistry, heart function, 47,XXX syndrome, single nucleotide polymorphism, genetics, sex chromosome aberration, ovary function, Mosaicism, XX gonadal dysgenesis, chromosome analysis, chromosome deletion X, Middle Aged, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, Wessex Classification Subject Headings::Endocrinology::Diabetes, Phenotype, body height, Female, Chromosomes Human X, Adult, Turner syndrome, Karyotype, gene dosage, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, chromosome Xq, Humans, C720 - Biological chemistry, controlled study, human, aneuploidy, Aged, trisomy, Chromosomes, Human, X, population genetics, Genetics Population, Aneuploidy, major clinical study, United Kingdom, short stature, primary amenorrhea, mosaicism, Genetics, Population, Polymorphism Single Nucleotide, sex chromosome mosaicism, pathology

Access URL: https://www.nature.com/articles/s41436-018-0271-6.pdf
https://pubmed.ncbi.nlm.nih.gov/30181606
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752315
https://www.ncbi.nlm.nih.gov/pubmed/30181606
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752315
https://www.nature.com/articles/s41436-018-0271-6.pdf
https://ore.exeter.ac.uk/repository/bitstream/10871/34185/1/s41436-018-0271-6.pdf
https://pubmed.ncbi.nlm.nih.gov/30181606/

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Authors: Wakeling, MN Laver, TW Wright, CF et al.

Source: Genet Med

Subject Terms: Male, 0301 basic medicine, 0303 health sciences, variant interpretation, Homozygote, recessive disease, Genetic Diseases, Inborn, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Polymorphism, Single Nucleotide, ACMG guidelines, Article, Pedigree, 3. Good health, genetic diagnosis, 03 medical and health sciences, Humans, Female, Mendelian disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/30279471
https://www.ncbi.nlm.nih.gov/pubmed/30279471
https://europepmc.org/abstract/MED/30279471
https://www.nature.com/articles/s41436-018-0281-4
https://www.nature.com/articles/s41436-018-0281-4.pdf
https://pubmed.ncbi.nlm.nih.gov/30279471/
https://ore.exeter.ac.uk/repository/handle/10871/34252

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals

Authors: Pedro Oliveira George J Burghel Eamonn R. Maher et al.

Source: Forde, C, Lim, D H K, Alwan, Y, Burghel, G, Butland, L, Cleaver, R, Dixit, A, Evans, D G, Hanson, H, Lalloo, F, Oliveira, P, Vialard, L, Wallis, Y, Maher, E R & Woodward, E 2019, 'Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Clinical, molecular and screening features in a cohort of 185 affected individuals', European Urology Oncology. https://doi.org/10.1016/j.euo.2019.11.002, https://doi.org/10.1016/j.euo.2019.11.002

Subject Terms: Adult, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Kidney, HLRCC, Fumarate Hydratase, 03 medical and health sciences, Genetic, Leiomyomatosis, Humans, Genetic Testing, Medical History Taking, Carcinoma, Renal Cell, Early Detection of Cancer, Aged, Molecular Epidemiology, 0303 health sciences, Leiomyomata, Middle Aged, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, RCC, Magnetic Resonance Imaging, Kidney Neoplasms, 3. Good health, Mutation, Female, Follow-Up Studies

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Access URL: https://pubmed.ncbi.nlm.nih.gov/31831373
https://research.manchester.ac.uk/en/publications/efa9d5f9-6043-45e4-b55b-a743356d797b
https://doi.org/10.1016/j.euo.2019.11.002
https://www.sciencedirect.com/science/article/abs/pii/S2588931119301610
https://www.research.manchester.ac.uk/portal/en/publications/hereditary-leiomyomatosis-and-renal-cell-cancer-hlrcc-clinical-molecular-and-screening-features-in-a-cohort-of-185-affected-individuals(efa9d5f9-6043-45e4-b55b-a743356d797b).html
https://www.sciencedirect.com/science/article/pii/S2588931119301610
https://www.ncbi.nlm.nih.gov/pubmed/31831373
https://pubmed.ncbi.nlm.nih.gov/31831373/
https://europepmc.org/article/MED/31831373
https://research.manchester.ac.uk/en/publications/efa9d5f9-6043-45e4-b55b-a743356d797b
https://doi.org/10.1016/j.euo.2019.11.002
http://europepmc.org/abstract/med/31831373

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

Authors: Bovijn, Jonas Jackson, Leigh Censin, Jenny et al.

Contributors: Bovijn, Jonas Jackson, Leigh Censin, Jenny et al.

Source: Am J Hum Genet
The American Journal of Human Genetics

Subject Terms: Male, 0301 basic medicine, erectile dysfunction, Hypothalamus, impotence, 03 medical and health sciences, Erectile Dysfunction, 5. Gender equality, Report, Mendelian randomization, Basic Helix-Loop-Helix Transcription Factors, GWAS, Humans, Computer Simulation, Genetic Predisposition to Disease, SIM1, 10. No inequality, Alleles, 2. Zero hunger, 0303 health sciences, diabetes, UK biobank, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, mendelian randomisation, 3. Good health, Europe, Repressor Proteins, Diabetes Mellitus, Type 2, genome-wide association, Chromosomes, Human, Pair 6, Genome-Wide Association Study

File Description: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

Access URL: http://www.cell.com/article/S0002929718304075/pdf
https://pubmed.ncbi.nlm.nih.gov/30583798
https://www.ncbi.nlm.nih.gov/pubmed/30583798
https://www.bdi.ox.ac.uk/publications/954461
https://www.cell.com/ajhg/fulltext/S0002-9297(18)30407-5
https://pubmed.ncbi.nlm.nih.gov/30583798/
https://ore.exeter.ac.uk/repository/handle/10871/35793
https://www.wrh.ox.ac.uk/publications/954461

Using genetics to decipher the link between type 2 diabetes and cancer: shared aetiology or downstream consequence?

Authors: Hanieh Yaghootkar Emma E. Vincent

Source: Diabetologia

Subject Terms: 0301 basic medicine, obesity, physical activity, Review, cancer risk, genetic risk, F100 - Chemistry, Risk Factors, Neoplasms, genetic variability, GWAS, genetics, Mendelian randomisation, transcription factor, Adiposity, Cancer, 0303 health sciences, cancer prevention, non insulin dependent diabetes mellitus, Diabetes, allele, Type 2 diabetes, Confounding Factors, Epidemiologic, Genetic Pleiotropy, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, Causality, Wessex Classification Subject Headings::Endocrinology::Diabetes, priority journal, risk factor, hyperinsulinemia, Confounding Factors Epidemiologic, carcinogenesis, colorectal cancer, tissue specificity, malignant neoplasm, 03 medical and health sciences, pancreas cancer, pleiotropy, Genetics, Humans, C720 - Biological chemistry, Genetic Predisposition to Disease, human, name=ICEP, aging, Diabetes Mellitus Type 2, Mendelian Randomization Analysis, Wnt signaling, Diabetes Mellitus, Type 2, genetic variation, hyperglycemia, diet, genetic predisposition, neoplasm, Genome-Wide Association Study

File Description: application/pdf

Access URL: https://link.springer.com/content/pdf/10.1007/s00125-020-05228-y.pdf
https://pubmed.ncbi.nlm.nih.gov/32705315
http://www.diva-portal.org/smash/record.jsf?pid=diva2:1459615
http://www.ncbi.nlm.nih.gov/pubmed/32705315
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7406536
https://pubmed.ncbi.nlm.nih.gov/32705315/
https://link.springer.com/article/10.1007/s00125-020-05228-y
https://rde.dspace-express.com/handle/11287/621591

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Authors: Garrett, Alice Callaway, Alison Durkie, Miranda et al.

Contributors: Garrett, Alice Callaway, Alison Durkie, Miranda et al.

Source: J Med Genet
CanVIG-UK, Garrett, A, Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, G, Robinson, R, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D, Berry, I, Drummond, J, Wallace, A, Norbury, G, Eccles, D, Ellard, S, Lalloo, F, Evans, D G, Woodward, E, Tischkowitz, M, Hanson, H & Turnball, C 2020, 'Cancer Variant Interpretation Group UK (CanVIG-UK): An exemplar National Subspecialist Multidisciplinary Network', Journal of Medical Genetics.
Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D & CanVIG-UK 2020, ' Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106759

Subject Terms: Wessex Classification Subject Headings::Oncology. Pathology, Male, 0301 basic medicine, 0303 health sciences, Genetic Variation, High-Throughput Nucleotide Sequencing, Genomics, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, United Kingdom, 3. Good health, 03 medical and health sciences, CanVIG-UK, Neoplasms, molecular genetics, oncology, Cancer Genetics, Humans, genetics, Female, guidelines, Genetic Testing, Ireland, clinical genetics

File Description: application/pdf; text/xml; text; Print-Electronic

Access URL: https://jmg.bmj.com/content/jmedgenet/57/12/829.full.pdf
https://pubmed.ncbi.nlm.nih.gov/32170000
https://research.manchester.ac.uk/en/publications/20038a3f-5b4f-49bf-963f-c7b6092ee45e
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691806
https://kclpure.kcl.ac.uk/portal/en/publications/cancer-variant-interpretation-group-uk-canviguk(d6e55b37-9b64-4823-871f-6f541f3f6f8e).html
https://rde.dspace-express.com/bitstream/11287/621380/1/open%20access%20article%2032.pdf
https://europepmc.org/article/MED/32170000
https://rde.dspace-express.com/handle/11287/621380
https://jmg.bmj.com/content/jmedgenet/57/12/829.full.pdf
https://www.repository.cam.ac.uk/handle/1810/303477
https://doi.org/10.1136/jmedgenet-2019-106759
https://doi.org/10.17863/cam.50565
https://eprints.soton.ac.uk/438845/

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Authors: Williamson, Kathleen A Hall, H Nikki Owen, Liusaidh J et al.

Source: Genet Med
Genetics in medicine
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9

Subject Terms: Adult, Male, 0301 basic medicine, Heterozygote, Génétique clinique, Adolescent, PAX6 Transcription Factor, SOX2, Mutation, Missense, Article, ENHANCER, Cohort Studies, Young Adult, 03 medical and health sciences, MOLECULAR-BASIS, Humans, Microphthalmos, MALFORMATIONS, Genetic Predisposition to Disease, Eye Abnormalities, Child, protein destabilization, Genetics & Heredity, 0303 health sciences, Science & Technology, Binding Sites, IDENTIFICATION, MUTATIONS, HOMEODOMAIN, ANOPHTHALMIA, Infant, ANIRIDIA, missense variant, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, GENE, PAX6, Pedigree, 3. Good health, DNA-Binding Proteins, paired domain, microphthalmia, Child, Preschool, Female, Life Sciences & Biomedicine

File Description: application/pdf; 1 full-text file(s): application/pdf; text; pdf

Access URL: https://www.nature.com/articles/s41436-019-0685-9.pdf
https://pubmed.ncbi.nlm.nih.gov/31700164
https://eprints.gla.ac.uk/203990/1/203990.pdf
https://research.rug.nl/en/publications/a34b8ea9-515a-4d33-8231-c21651befdca
https://hdl.handle.net/11370/a34b8ea9-515a-4d33-8231-c21651befdca
https://doi.org/10.1038/s41436-019-0685-9
https://pubmed.ncbi.nlm.nih.gov/31700164/
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296495/Holdings
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056646
https://www.nature.com/articles/s41436-019-0685-9
https://www.gimjournal.org/article/S1098-3600(21)01252-1/fulltext
https://www.research.ed.ac.uk/portal/files/120428082/s41436_019_0685_9.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296495
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf
https://hdl.handle.net/20.500.11820/13fdec9f-b39c-4327-87e1-e8526d8c1c5f
https://discovery-pp.ucl.ac.uk/id/eprint/10189265/
https://eprints.soton.ac.uk/436322/

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Authors: De Franco, Elisa Caswell, Richard Johnson, Matthew B et al.

Contributors: De Franco, Elisa Caswell, Richard Johnson, Matthew B et al.

Source: Diabetes. 69:477-483

Subject Terms: Male, Models, Molecular, 0301 basic medicine, Kinase, Endoplasmic-reticulum stress, Adolescent, Eukaryotic Initiation Factor-2, Mutation, Missense, 03 medical and health sciences, Subunits, Recurrence, Stress, Physiological, Diabetes Mellitus, Humans, Computer Simulation, Phosphorylation, 0303 health sciences, Protein, Mellitus, Liver Diseases, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, Wessex Classification Subject Headings::Endocrinology::Diabetes, Eukaryotic Initiation Factor-2B, Nucleotide exchange, Child, Preschool, Er stress, Mutation, Female

File Description: application/pdf

Access URL: https://diabetes.diabetesjournals.org/content/diabetes/69/3/477.full.pdf
https://ore.exeter.ac.uk/repository/bitstream/10871/40159/1/Manuscript_EIF2B1_accepted%20version.pdf
https://pubmed.ncbi.nlm.nih.gov/31882561
https://www.ncbi.nlm.nih.gov/pubmed/31882561
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100014
https://diabetes.diabetesjournals.org/content/69/3/477
https://www.repository.cam.ac.uk/handle/1810/300405
https://diabetes.diabetesjournals.org/content/early/2019/12/19/db19-1029
https://pubmed.ncbi.nlm.nih.gov/31882561/
https://www.espeyearbook.org/ey/0017/ey0017.2-7

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Authors: Lucy A. Hicklin William H. Aisenberg Cathleen M. Lutz et al.

Source: Journal of Clinical Investigation. 130:1506-1512

Subject Terms: Male, 0301 basic medicine, Glycosylation, Mutation, Missense, Mice, 03 medical and health sciences, Charcot-Marie-Tooth Disease, Medicine and Health Sciences, Animals, Humans, Neurodegeneration, JMG, Genes, Dominant, 0303 health sciences, Receptors, Notch, Life Sciences, Neuromuscular disease, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, Amino Acid Substitution, Female, Jagged-1 Protein, Genetic diseases, Neuroscience, Signal Transduction

File Description: application/pdf

Access URL: http://www.jci.org/articles/view/128152/files/pdf
https://pubmed.ncbi.nlm.nih.gov/32065591
https://pubmed.ncbi.nlm.nih.gov/32065591/
https://europepmc.org/article/MED/32065591
https://www.jci.org/articles/view/128152
https://mouseion.jax.org/stfb2020/52/
https://www.ncbi.nlm.nih.gov/pubmed/32065591
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269582
https://discovery-pp.ucl.ac.uk/id/eprint/10107404/

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Authors: Karen Stals Aleck W.E. Jones Wan Hee Yoon et al.

Source: Am J Hum Genet

Subject Terms: metabolic disorder, Male, 0301 basic medicine, Mitochondrial Diseases, DNA Copy Number Variations, mitochondrial DNA, Mitochondrial Proteins, 03 medical and health sciences, Corneal Opacity, Report, Gene Duplication, Humans, Amino Acid Sequence, Homologous Recombination, ATAD3, ATAD3 gene cluster, Gene Rearrangement, Brain Diseases, 0303 health sciences, Infant, Newborn, cholesterol, Infant, Membrane Proteins, non-allelic homologous recombination, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Mitochondria, 3. Good health, NAHR, Cholesterol, Harel-Yoon, ATPases Associated with Diverse Cellular Activities, Muscle Hypotonia, Female, Cardiomyopathies, cardiomyopathy

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Access URL: http://www.cell.com/article/S0002929720300070/pdf
https://pubmed.ncbi.nlm.nih.gov/32004445
https://openaccess.sgul.ac.uk/id/eprint/111761/1/1-s2.0-S0002929720300070-main.pdf
https://pubmed.ncbi.nlm.nih.gov/32004445/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010973
https://www.sciencedirect.com/science/article/pii/S0002929720300070
https://www.eprints.ncl.ac.uk/263612
https://www.ncbi.nlm.nih.gov/pubmed/32004445
https://www.cell.com/ajhg/fulltext/S0002-9297(20)30007-0
https://discovery-pp.ucl.ac.uk/id/eprint/10092792/

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium: results from The BRCA1 and BRCA2 Cohort Consortium

Authors: Nadine Andrieu Kelly-Anne Phillips Håkan Olsson et al.

Contributors: Nadine Andrieu Kelly-Anne Phillips Håkan Olsson et al.

Source: Li, H, Terry, M B, Antoniou, A C, Phillips, K A, Kast, K, Mooij, T M, Engel, C, Noguès, C, Stoppa-Lyonnet, D, Lasset, C, Berthet, P, Mari, V, Caron, O, Barrowdale, D, Frost, D, Brewer, C, Evans, D G, Izatt, L, Side, L, Walker, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Snape, K, Meijers-Heijboer, H E J, Gille, J J P, Blok, M J, Hoogerbrugge, N, Daly, M B, Andrulis, I L, Buys, S S, John, E M, McLachlan, S A, Friedlander, M, Tan, Y Y, Osorio, A, Caldes, T, Jakubowska, A, Simard, J, Singer, C F, Olah, E, Navratilova, M, Foretova, L, Gerdes, A M, Roos-Blom, M J, Arver, B, Olsson, H, Schmutzler, R K, Hopper, J L, Milne, R L, Easton, D F, Van Leeuwen, F E, Rookus, M A, Andrieu, N, Goldgar, D E, GENEPSO study, EMBRACE Study, HEBON Investigators & KConFab Investigators 2020, 'Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers : Results from The BRCA1 and BRCA2 Cohort Consortium', Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, vol. 29, no. 2, pp. 368-378. https://doi.org/10.1158/1055-9965.EPI-19-0546
Cancer Epidemiology, Biomarkers & Prevention, 29, 2, pp. 368-378
Li, H, Terry, M B, Antoniou, A C, Phillips, K-A, Kast, K, Mooij, T M, Engel, C, Noguès, C, Stoppa-Lyonnet, D, Lasset, C, Berthet, P, Mari, V, Caron, O, Barrowdale, D, Frost, D, Brewer, C, Evans, D G, Izatt, L, Side, L, Walker, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Meijers-Heijboer, H E J, Gille, J J, Blok, M J, Hoogerbrugge, N, Daly, M B, Andrulis, I L, Buys, S S, John, E M, McLachlan, S-A, Friedlander, M, Tan, Y Y, Osorio, A, Caldes, T, Jakubowska, A, Simard, J, Singer, C F, Olah, E, Navratilova, M, Foretova, L, Gerdes, A-M, Roos-Blom, M-J, Arver, B, Olsson, H, Schmutzler, R K, Hopper, J L, Milne, R L, Easton, D F, Van Leeuwen, F E, Rookus, M A, Andrieu, N & Goldgar, D E 2019, 'Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers : results from The BRCA1 and BRCA2 Cohort Consortium', Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. https://doi.org/10.1158/1055-9965.EPI-19-0546

Subject Terms: Adult, Heterozygote, PROGNOSIS, life-style, Alcohol Drinking, Breast Neoplasms, SUSCEPTIBILITY, kconfab, susceptibility, Cigarette Smoking, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, ovarian, Humans, Genetic Predisposition to Disease, Prospective Studies, Life Style, Reproductive History, Retrospective Studies, BRCA2 Protein, BRCA1 Protein, Middle Aged, OVARIAN, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, KCONFAB, Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Mutation, Human Genetics - Radboud University Medical Center, LIFE-STYLE, Female, prognosis

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https://openaccess.sgul.ac.uk/id/eprint/111612/1/1055-9965.EPI-19-0546.full.pdf
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https://doi.org/10.1158/1055-9965.EPI-19-0546
https://cris.maastrichtuniversity.nl/en/publications/c9152630-b94d-49fb-8264-f7f3d4f570bf
https://doi.org/10.1158/1055-9965.epi-19-0546
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https://europepmc.org/article/MED/31792088
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https://research.vumc.nl/en/publications/alcohol-consumption-cigarette-smoking-and-risk-of-breast-cancer-f
https://tel.archives-ouvertes.fr/HUGUENIN/inserm-02438388v1
https://research.vumc.nl/en/publications/12031bbf-fda0-43b7-8c00-ee8b7a6de475
https://pure.amsterdamumc.nl/en/publications/1849a248-0029-4475-bb3b-cb9e13ab1dd3
https://doi.org/10.1158/1055-9965.EPI-19-0546
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https://hdl.handle.net/2066/218281
https://pure.manchester.ac.uk/ws/files/158052466/ibccs_alcsmok_draft_final_KAP.docx
https://research.manchester.ac.uk/en/publications/9d583f77-9e9d-496a-b97f-4d1744e1ba42
https://doi.org/10.1158/1055-9965.EPI-19-0546

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Authors: Michael Wright Hayley P. Lazar Jamal Ghoumid et al.

Contributors: Michael Wright Hayley P. Lazar Jamal Ghoumid et al.

Source: Genetics in Medicine. 22:389-397

Subject Terms: Male, 0301 basic medicine, Developmental Disabilities, Neurodevelopmental Disorders/genetics, chromatin remodeling, 12p13, Abnormalities, Multiple/genetics, Genetics(clinical), Child, Research Support, Non-U.S. Gov't, Musculoskeletal Abnormalities/genetics, Syndrome, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Heart Defects, Congenital/genetics, 3. Good health, [SDV] Life Sciences [q-bio], Phenotype, intellectual disability, Mutation, Missense/genetics, Child, Preschool, Female, Megalencephaly/genetics, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Adult, Heart Defects, Congenital, missense, Adolescent, Genotype, Transcription Factors/genetics, Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics, 12p13.31, 03 medical and health sciences, Research Support, N.I.H., Extramural, Hearing Loss/genetics, Intellectual Disability, Journal Article, ATPase, Humans, Abnormalities, Multiple, Hearing Loss, Genetic Association Studies, Chromatin Assembly and Disassembly/genetics, Infant, Newborn, Infant, Research Support, N.I.H., Intramural, Chromatin Assembly and Disassembly, Intellectual Disability/genetics, Megalencephaly, Musculoskeletal Abnormalities, Developmental Disabilities/genetics

File Description: application/pdf

Access URL: https://www.nature.com/articles/s41436-019-0612-0.pdf
https://pubmed.ncbi.nlm.nih.gov/31388190
https://univ-angers.hal.science/hal-02616928v1
https://doi.org/10.1038/s41436-019-0612-0
https://www.nature.com/articles/s41436-019-0612-0/
https://www.nature.com/articles/s41436-019-0612-0.pdf
https://www.scilit.net/article/0ae4399b0fee62ed3d87c7a28eb19fa5
https://lilloa.univ-lille.fr/handle/20.500.12210/55442
http://www-nature-com-443.webvpn.bjmu.tsg211.com/articles/s41436-019-0727-3.pdf
https://pubmed.ncbi.nlm.nih.gov/31388190/
https://dspace.library.uu.nl/handle/1874/439804
https://hdl.handle.net/1887/3184937

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Authors: Pedro Marques Francisca Caimari Laura C Hernández-Ramírez et al.

Source: J Clin Endocrinol Metab
FIPA Consortium 2020, ' Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors ', The Journal of Clinical Endocrinology and Metabolism, vol. 105, no. 6 . https://doi.org/10.1210/clinem/dgaa040

Subject Terms: Adult, Male, Adolescent, pituitary adenoma, Gigantism, Wessex Classification Subject Headings::Endocrinology, aryl hydrocarbon receptor-interacting protein, Young Adult, 03 medical and health sciences, 0302 clinical medicine, familial isolated pituitary adenoma, Aryl hydrocarbon receptor-interacting protein, Humans, Mass Screening, Pituitary Neoplasms, Genetic Testing, Prospective Studies, gigantism, Age of Onset, Clinical Research Articles, Pituitary neuroendocrine tumor, Intracellular Signaling Peptides and Proteins, Prognosis, Pituitary adenoma, Somatotropinoma, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, pituitary neuroendocrine tumor, Familial isolated pituitary Adenoma, Mutation, somatotropinoma, Female, Growth Hormone-Secreting Pituitary Adenoma, Biomarkers, Follow-Up Studies

File Description: application/pdf

Access URL: https://academic.oup.com/jcem/article-pdf/105/6/e2247/41829299/dgaa040.pdf
https://pubmed.ncbi.nlm.nih.gov/31996917
https://research.manchester.ac.uk/en/publications/390d25a1-9f95-4ad2-9573-10fc35b92c7e
https://doi.org/10.1210/clinem/dgaa040
https://repo.lib.tokushima-u.ac.jp/files/public/11/114398/20200417113423866006/jcem_105_6_dgaa040.pdf
https://academic.oup.com/jcem/article/105/6/e2247/5717684
https://research-repository.uwa.edu.au/en/publications/significant-benefits-of-aip-testing-and-clinical-screening-in-fam
https://www.scilit.net/article/03c31d997c001e19a6026032dc661d53
https://europepmc.org/article/MED/31996917
https://pubmed.ncbi.nlm.nih.gov/31996917/
https://discovery-pp.ucl.ac.uk/id/eprint/10104901/

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

Authors: Sian Ellard F. M. Pope Elizabeth Oakley-Hannibal et al.

Source: Clinical Dysmorphology. 29:69-72

Subject Terms: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, Scoliosis, Humans, Ehlers-Danlos Syndrome, Female, Kyphosis, Neuromuscular Diseases, Child, Frameshift Mutation, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Ion Channels

Access URL: https://pubmed.ncbi.nlm.nih.gov/31609726
http://journals.lww.com/10.1097/MCD.0000000000000304
https://www.ncbi.nlm.nih.gov/pubmed/31609726
https://pubmed.ncbi.nlm.nih.gov/31609726/

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

Authors: Nyberg, Tommy Frost, Debra Barrowdale, Daniel et al.

Contributors: Nyberg, Tommy Frost, Debra Barrowdale, Daniel et al.

Source: European urology
United Kingdom
Switzerland
Evans, D G & et al. 2019, 'Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: a prospective cohort study', European Urology. https://doi.org/10.1016/j.eururo.2019.08.025

Subject Terms: Adult, Male, Risk, Genes, BRCA2, Genes, BRCA1, genetic risk, PROSTATE CANCER, Risk Assessment, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Humans, Prospective Studies, Aged, Wessex Classification Subject Headings::Oncology. Pathology, Genetic risk, Aged, 80 and over, prospective cohort study, Prostate cancer, Prostatic Neoplasms, Middle Aged, prostate cancer, BRCA1, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, BRCA2, 3. Good health, Prospective cohort study, Mutation

File Description: application/pdf; Print-Electronic

Access URL: https://pubmed.ncbi.nlm.nih.gov/31495749
https://openaccess.sgul.ac.uk/id/eprint/111344/6/1-s2.0-S030228381930675X-main.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926480
https://www.europeanurology.com/article/S0302-2838(19)30675-X/fulltext
https://repository.icr.ac.uk/handle/internal/3358
https://www.sciencedirect.com/science/article/abs/pii/S030228381930675X
https://www.repository.cam.ac.uk/handle/1810/296207
https://www.sciencedirect.com/science/article/pii/S030228381930675X
http://hdl.handle.net/10147/630050
https://www.repository.cam.ac.uk/handle/1810/296207
https://doi.org/10.17863/cam.43252
https://doi.org/10.1016/j.eururo.2019.08.025

Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes

Authors: Chakera, Ali J. Hurst, Paul S. Spyer, Gill et al.

Contributors: Chakera, Ali J. Hurst, Paul S. Spyer, Gill et al.

Source: Mol Metab
Molecular Metabolism, Vol 17, Iss, Pp 17-27 (2018)
Chakera, A J, Hurst, P S, Spyer, G, Ogunnowo-Bada, E O, Marsh, W J, Riches, C H, Yueh, C Y, Markkula, S P, Dalley, J W, Cox, R D, Macdonald, I A, Amiel, S A, MacLeod, K M, Heisler, L K, Hattersley, A T & Evans, M L 2018, ' Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes ', Molecular Metabolism . https://doi.org/10.1016/j.molmet.2018.08.001

Subject Terms: Blood Glucose, Male, 0301 basic medicine, R Medicine (General), Mice, STZ, Insulin-Secreting Cells, Glucokinase, Insulin, HOM, Homozygous, Internal medicine, Mice, Inbred BALB C, GE, WT, Streptozotocin, Middle Aged, ARC, Arcuate nucleus, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, GI, Wessex Classification Subject Headings::Endocrinology::Diabetes, Original Article, Female, Adult, Epinephrine, Wild type, β-cells, Glucose inhibited, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Hyperinsulinism, Diabetes Mellitus, Animals, Humans, Hypoglycemic Agents, Insulin clamp, Maturity Onset Diabetes of Young (MODY), GCK, Glucose excited, Counter-regulation, Ventromedial hypothalamus, HET, VMN, Glucagon, R1, RC31-1245, Hypoglycemia, Disease Models, Animal, Glucose, Heterozygous, Glucose Clamp Technique, Maturity onset diabetes of young (MODY)

File Description: application/pdf

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https://doaj.org/article/5aa2ee6354054a39a0a0b99baae7f83c
https://www.sciencedirect.com/science/article/pii/S2212877818307506
http://aura.abdn.ac.uk/bitstream/2164/11381/1/Molecular_reductions_in_glucokinase_activity_increase_counter_regulatory_responses_to_hypoglycemia_in_mice_and_humans_with_diabetes.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197723
https://aura.abdn.ac.uk/handle/2164/11381
https://abdn.pure.elsevier.com/en/publications/molecular-reductions-in-glucokinase-activity-increase-counter-reg
https://www.sciencedirect.com/science/article/abs/pii/S2212877818307506
https://kclpure.kcl.ac.uk/en/publications/6638e389-da15-4da5-b3ad-2bb74e955ea9
https://kclpure.kcl.ac.uk/portal/en/publications/6638e389-da15-4da5-b3ad-2bb74e955ea9
https://www.repository.cam.ac.uk/handle/1810/279641
https://doi.org/10.17863/cam.27010
https://doi.org/10.1016/j.molmet.2018.08.001