Temat: "Genetics, Medical" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Physician Perception of the Importance of Medical Genetics and Genomics in Medical Education and Clinical Practice.
Autorzy:: French EL
Kader L; Department of Anatomy and Cell Biology, University of Kansas School of Medicine, Kansas City, KS, USA.
Young EE; Department of Anesthesiology, University of Kansas School of Medicine, Kansas City, KS, USA.
Fontes JD; Department of Biochemistry and Molecular Biology, University of Kansas School of Medicine, Kansas City, KS, USA.; Pokaż więcej
Źródło:: Medical education online [Med Educ Online] 2023 Dec; Vol. 28 (1), pp. 2143920.
Typ publikacji:: Journal Article
MeSH Terms:: Genetics, Medical*/education
Education, Medical*
Physicians*
Humans ; Retrospective Studies ; Genomics/education ; Perception

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: Medical Genetics, Genomics and Bioinformatics-2022.
Autorzy:: Klimontov VV; Research Institute of Clinical and Experimental Lymphology-Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (RICEL-Branch of IC&G SB RAS), 630060 Novosibirsk, Russia.
Koshechkin KA; The Digital Health Institute, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.
Orlova NG; Department of Mathematics, Financial University under the Government of the Russian Federation, 125167 Moscow, Russia.
Sekacheva MI; Institute of Personalized Oncology, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.
Orlov YL; Research Institute of Clinical and Experimental Lymphology-Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (RICEL-Branch of IC&G SB RAS), 630060 Novosibirsk, Russia.; The Digital Health Institute, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.; Institute of Life Sciences and Biomedicine, Far Eastern Federal University, 690922 Vladivostok, Russia.; Agrarian and Technological Institute, Peoples' Friendship University of Russia, 117198 Moscow, Russia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 May 18; Vol. 24 (10). Date of Electronic Publication: 2023 May 18.
Typ publikacji:: Editorial
MeSH Terms:: Genetics, Medical*
Genomics ; Computational Biology

Opinia redakcyjna

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 3.

Tytuł:: Array genotyping as diagnostic approach in medical genetics.
Autorzy:: Witsch-Baumgartner M; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Schwaninger G; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Schnaiter S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Kollmann F; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Burkhard S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Gröbner R; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Mühlegger B; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Schamschula E; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Kirchmeier P; JSI Medical Systems GmbH, Ettenheim, Germany.
Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Sep; Vol. 10 (9), pp. e2016. Date of Electronic Publication: 2022 Aug 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetics, Medical*
Genetic Testing ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Software

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 4.

Tytuł:: Molecular Research in Medical Genetics.
Autorzy:: Viggiano E; Department of Prevention, Hygiene and Public Health Service, ASL Roma 2, 00157 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 14; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 14.
Typ publikacji:: Editorial
MeSH Terms:: Genetics, Medical*
Genome, Human ; Humans

Opinia redakcyjna

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 5.

Tytuł:: Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Autorzy:: Ponińska JK; Department of Medical Biology, National Institute of Cardiology, Alpejska 42, Warsaw, Poland. .
Bilińska ZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Alpejska 42, Warsaw, Poland. .
Truszkowska G; Department of Medical Biology, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Podgórska A; Department of Medical Biology, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Stępień-Wojno M; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Lutyńska A; Department of Medical Biology, National Institute of Cardiology, Alpejska 42, Warsaw, Poland.
Płoski R; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Pawińskiego 3c, Warsaw, Poland.; Pokaż więcej
Źródło:: Journal of translational medicine [J Transl Med] 2022 Jan 25; Vol. 20 (1), pp. 42. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Aortic Aneurysm, Thoracic*/genetics
Genetics, Medical*
Genetic Testing/methods ; Genetic Variation ; Genomics ; Humans ; Pathology, Molecular ; United States ; Virulence

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 6.

Tytuł:: Medical Genetics, Genomics and Bioinformatics Aid in Understanding Molecular Mechanisms of Human Diseases.
Autorzy:: Orlov YL; The Digital Health Institute, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.; Agrarian and Technological Institute, Peoples' Friendship University of Russia, 117198 Moscow, Russia.
Anashkina AA; The Digital Health Institute, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.
Klimontov VV; Research Institute of Clinical and Experimental Lymphology-Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (RICEL-Branch of IC&G SB RAS), 630060 Novosibirsk, Russia.
Baranova AV; School of Systems Biology, George Mason University, Fairfax, VA 22030, USA.; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Sep 15; Vol. 22 (18). Date of Electronic Publication: 2021 Sep 15.
Typ publikacji:: Editorial; Introductory Journal Article
MeSH Terms:: Computational Biology*
Genetics, Medical*
Genomics*
Disease/*genetics
Animals ; Disease Models, Animal ; Gene Regulatory Networks ; Humans ; Mesenchymal Stem Cells/metabolism ; MicroRNAs/genetics ; MicroRNAs/metabolism

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 7.

Tytuł:: Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles
Autorzy:: Tuğ Bozdoğan S; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey; Adana Genetic Disease Diagnosis and Treatment Center (AGENTEM), Çukurova University Adana, Turkey
Büyükkurt S; Department of Obstetrics and Gynecology, Faculty of Medicine, Çukurova University, Adana, Turkey
Özer S; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey
Bişgin A; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey; Adana Genetic Disease Diagnosis and Treatment Center (AGENTEM), Çukurova University Adana, Turkey; Pokaż więcej
Źródło:: Turkish journal of medical sciences [Turk J Med Sci] 2021 Apr 30; Vol. 51 (2), pp. 657-660. Date of Electronic Publication: 2021 Apr 30.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Counseling*
Genetics, Medical*
Prenatal Diagnosis*
Adult ; Aged ; Chromosome Aberrations ; Cytogenetics ; Female ; Humans ; Male ; Middle Aged ; Pregnancy ; Retrospective Studies ; Universities

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 8.

Tytuł:: Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences.
Autorzy:: Baranova AV; George Mason University, Fairfax, VA, 22030, USA.; Research Centre for Medical Genetics, 115522, Moscow, Russia.
Leberfarb EY; Institute of Cytology and Genetics SB RAS, 630090, Novosibirsk, Russia.
Lebedev GS; The Digital Health Institute, I.M.Sechenov First Moscow State Medical University (Sechenov University), 119991, Moscow, Russia.
Orlov YL; Institute of Cytology and Genetics SB RAS, 630090, Novosibirsk, Russia. .; The Digital Health Institute, I.M.Sechenov First Moscow State Medical University (Sechenov University), 119991, Moscow, Russia. .; Novosibirsk State University, 630090, Novosibirsk, Russia. .; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2020 Oct 22; Vol. 21 (Suppl 1), pp. 186. Date of Electronic Publication: 2020 Oct 22.
Typ publikacji:: Introductory Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Computational Biology*
Genetics, Medical*
Systems Biology*
Congresses as Topic ; Humans

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 9.

Tytuł:: Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school.
Autorzy:: Orlov YL; The Digital Health Institute, I.M.Sechenov First Moscow State Medical University (Sechenov University), 119991, Moscow, Russia. .; Novosibirsk State University, 630090, Novosibirsk, Russia. .; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics SB RAS, 630089, Novosibirsk, Russia. .
Voropaeva EN; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics SB RAS, 630089, Novosibirsk, Russia.
Chen M; Department of Bioinformatics, College of Life Sciences, First Affiliated Hospital of Medical School, Zhejiang University, Hangzhou, 310058, China.
Baranova AV; George Mason University, Fairfax, VA, 22030, USA.; Research Centre for Medical Genetics, 115522, Moscow, Russia.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2020 Sep 18; Vol. 13 (Suppl 8), pp. 127. Date of Electronic Publication: 2020 Sep 18.
Typ publikacji:: Introductory Journal Article
MeSH Terms:: Genetics, Medical*
Neoplasms/*genetics
Computational Biology ; Congresses as Topic ; Gene Expression Profiling ; Genomics ; Mutation ; Systems Biology

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 10.

Tytuł:: Global research on Fabry's disease: Demands for a rare disease.
Autorzy:: Klingelhöfer D; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Braun M; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Seeger-Zybok RK; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Quarcoo D; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Brüggmann D; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Groneberg DA; Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1163. Date of Electronic Publication: 2020 Feb 07.
Typ publikacji:: Journal Article
MeSH Terms:: Biomedical Research/*statistics & numerical data
Fabry Disease/*epidemiology
Genetics, Medical/*statistics & numerical data
Rare Diseases/*epidemiology
Biomedical Research/economics ; Fabry Disease/diagnosis ; Fabry Disease/genetics ; Financing, Organized/statistics & numerical data ; Genetic Testing/statistics & numerical data ; Genetics, Medical/economics ; Humans ; Infant, Newborn ; Neonatal Screening/trends ; Periodicals as Topic/statistics & numerical data ; Prevalence ; Rare Diseases/diagnosis ; Rare Diseases/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 11.

Tytuł:: Prediction of age at onset in Parkinson's disease using objective specific neuroimaging genetics based on a sparse canonical correlation analysis.
Autorzy:: Won JH; Department of Electronic and Computer Engineering, Sungkyunkwan University, Suwon, Korea.; Center for Neuroscience Imaging Research, Institute for Basic Science, Suwon, Korea.
Kim M; Department of Electronic and Computer Engineering, Sungkyunkwan University, Suwon, Korea.; Center for Neuroscience Imaging Research, Institute for Basic Science, Suwon, Korea.
Youn J; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-ro 81, Gangnam-gu, Seoul, 06351, Korea. .; Neuroscience Center, Samsung Medical Center, Seoul, Korea. .
Park H; Center for Neuroscience Imaging Research, Institute for Basic Science, Suwon, Korea. .; School of Electronic and Electrical Engineering, Sungkyunkwan University, Suwon, 16419, Korea. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2020 Jul 15; Vol. 10 (1), pp. 11662. Date of Electronic Publication: 2020 Jul 15.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Models, Statistical*
Prodromal Symptoms*
Genetics, Medical/*statistics & numerical data
Neuroimaging/*statistics & numerical data
Parkinson Disease/*diagnostic imaging
Parkinson Disease/*genetics
Age of Onset ; Aged ; Brain/diagnostic imaging ; Brain/metabolism ; Brain/pathology ; Female ; Genetic Loci ; Genetics, Medical/methods ; Humans ; Hypokinesia/diagnostic imaging ; Hypokinesia/genetics ; Hypokinesia/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuroimaging/methods ; Parkinson Disease/pathology ; Polymorphism, Single Nucleotide ; Prognosis ; Retrospective Studies ; Tremor/diagnostic imaging ; Tremor/genetics ; Tremor/pathology

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 12.

Tytuł:: The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study.
Autorzy:: Almomani BA; Department of Clinical Pharmacy, Faculty of Pharmacy, Jordan University of Science and Technology, Irbid, Jordan.
Al-Sawalha NA; Department of Clinical Pharmacy, Faculty of Pharmacy, Jordan University of Science and Technology, Irbid, Jordan.
Al-Keilani MS; Department of Clinical Pharmacy, Faculty of Pharmacy, Jordan University of Science and Technology, Irbid, Jordan.
Aman HA; Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Jun 19; Vol. 15 (6), pp. e0235001. Date of Electronic Publication: 2020 Jun 19 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Services*
Genetics, Medical*
Health Knowledge, Attitudes, Practice*
Health Personnel/*psychology
Patients/*psychology
Adult ; Female ; Health Literacy/statistics & numerical data ; Health Personnel/statistics & numerical data ; Humans ; Jordan ; Male ; Middle Aged ; Patients/statistics & numerical data

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 13.

Tytuł:: Twin Research in the Post-Genomic Era: Dissecting the Pathophysiological Effects of Adversity and the Social Environment.
Autorzy:: Turner JD; Immune Endocrine Epigenetics Research Group, Department of Infection and Immunity, Luxembourg Institute of Health, L-4354 Esch sur Alzette, Luxembourg.
D'Ambrosio C; Department of Behavioural and Cognitive Sciences, University of Luxembourg, L-4366 Esch-sur-Alzette, Luxembourg.
Vögele C; Department of Behavioural and Cognitive Sciences, University of Luxembourg, L-4366 Esch-sur-Alzette, Luxembourg.
Diewald M; Faculty of Sociology, Bielefeld University, 33501 Bielefeld, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2020 Apr 29; Vol. 21 (9). Date of Electronic Publication: 2020 Apr 29.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Genetic Research*
Genetics, Medical*/methods
Genomics*/methods
Diseases in Twins/*genetics
Twins/*genetics
Disease Susceptibility ; Epigenesis, Genetic ; Genetic Predisposition to Disease ; Humans ; Social Environment ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 14.

Tytuł:: New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s).
Autorzy:: Araújo Neto LA; Doctor en Historia de las Ciencias y de la Salud. Investigador, Casa de Oswaldo Cruz, Fundação Oswaldo Cruz. Rio de Janeiro, Brasil. .
Teixeira LA; Doctor en Historia Social. Investigador, Casa de Oswaldo Cruz, Fundação Oswaldo Cruz. Rio de Janeiro, Brasil. .; Pokaż więcej
Transliterated Title:: Nuevos problemas de un nuevo sistema de salud: la creación de una política pública nacional de atención de enfermedades raras en Brasil (1990-2014).
Źródło:: Salud colectiva [Salud Colect] 2020 Apr 05; Vol. 16, pp. e2210. Date of Electronic Publication: 2020 Apr 05.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Diseases, Inborn*/history
Genetic Diseases, Inborn*/therapy
Genetics, Medical*/history
Health Policy*/economics
Health Policy*/history
Health Policy*/legislation & jurisprudence
National Health Programs*/economics
National Health Programs*/history
National Health Programs*/legislation & jurisprudence
National Health Programs*/organization & administration
Rare Diseases*/classification
Rare Diseases*/genetics
Rare Diseases*/history
Rare Diseases*/therapy
Brazil ; Delivery of Health Care, Integrated/history ; Delivery of Health Care, Integrated/legislation & jurisprudence ; History, 20th Century ; History, 21st Century ; Humans ; Newspapers as Topic ; Patient Rights ; Politics ; Self-Help Groups/history ; Self-Help Groups/organization & administration ; Terminology as Topic

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 15.

Tytuł:: Artificial intelligence in clinical and genomic diagnostics.
Autorzy:: Dias R; The Scripps Translational Science Institute, The Scripps Research Institute, 3344 North Torrey Pines Court Suite 300, La Jolla, CA, 92037, USA.; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, 3344 North Torrey Pines Court Suite 300, La Jolla, CA, 92037, USA.
Torkamani A; The Scripps Translational Science Institute, The Scripps Research Institute, 3344 North Torrey Pines Court Suite 300, La Jolla, CA, 92037, USA. .; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, 3344 North Torrey Pines Court Suite 300, La Jolla, CA, 92037, USA. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2019 Nov 19; Vol. 11 (1), pp. 70. Date of Electronic Publication: 2019 Nov 19.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Artificial Intelligence*
Genetics, Medical*/methods
Genomics*/methods
Molecular Diagnostic Techniques*
Algorithms ; Computational Biology/methods ; Deep Learning ; Genetic Association Studies ; Humans ; Molecular Sequence Annotation ; Neural Networks, Computer ; Phenotype

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 16.

Tytuł:: Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Autorzy:: Ołdak M; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland. .
Lechowicz U; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.
Pollak A; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.
Oziębło D; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
Skarżyński H; Oto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.; Pokaż więcej
Źródło:: Journal of translational medicine [J Transl Med] 2019 Aug 14; Vol. 17 (1), pp. 269. Date of Electronic Publication: 2019 Aug 14.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetics, Medical*
High-Throughput Nucleotide Sequencing*
Connexin 26/*genetics
Hearing Loss/*genetics
Membrane Proteins/*genetics
Multifactorial Inheritance/*genetics
Neoplasm Proteins/*genetics
Serine Endopeptidases/*genetics
Connexin 26/metabolism ; Gene Expression Regulation ; Hearing/genetics ; Hearing Loss/physiopathology ; Humans ; Membrane Proteins/metabolism ; Neoplasm Proteins/metabolism ; Serine Endopeptidases/metabolism

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 17.

Tytuł:: Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Autorzy:: Munnich A; Fédération de Génétique Médicale, Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Fondation Elan Retrouvé, Paris, France.
Demily C; 2Centre de Reference Maladies Rares GénoPsy, Centre Hospitalier le Vinatier, Institut Marc Jeannerod, Bron, France.
Frugère L; 3Hôpital Necker Enfants-Malades, Fondation Elan Retrouvé, Paris, France.
Duwime C; 3Hôpital Necker Enfants-Malades, Fondation Elan Retrouvé, Paris, France.
Malan V; Fédération de Génétique Médicale, Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Barcia G; Fédération de Génétique Médicale, Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Vidal C; Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Fondation Elan Retrouvé, Paris, France.
Throo E; Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Fondation Elan Retrouvé, Paris, France.
Besmond C; Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Hubert L; Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Roland-Manuel G; Fondation Elan Retrouvé, Paris, France.
Malen JP; Fondation Elan Retrouvé, Paris, France.
Ferreri M; Fondation Elan Retrouvé, Paris, France.
Hanein S; Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Thalabard JC; MAP5, CNRS, Université Paris-Descartes, Paris, France.
Boddaert N; Department of Pediatric Radiology, Institute Imagine, Inserm, Université Paris-Descartes, Hôpital Necker Enfants-Malades, Paris, France.
Assouline M; Fondation Elan Retrouvé, Paris, France.; Pokaż więcej
Źródło:: Molecular autism [Mol Autism] 2019 Aug 07; Vol. 10, pp. 33. Date of Electronic Publication: 2019 Aug 07 (Print Publication: 2019).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetics, Medical*
Referral and Consultation*
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*genetics
Adolescent ; Adult ; Autism Spectrum Disorder/diagnostic imaging ; Child ; DNA Copy Number Variations/genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Young Adult

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 18.

Tytuł:: Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Autorzy:: Taylor J; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Craft J; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Wordsworth S; Nuffield Department of Population Health, University of Oxford, Oxford, UK.; National Institute for Health Research Biomedical Research Centre, Oxford, UK.
Beeson D; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Chandratre S; Children's Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Cossins J; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Lester T; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Németh AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Ormondroyd E; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; National Institute for Health Research Biomedical Research Centre, Oxford, UK.
Patel SY; National Institute for Health Research Biomedical Research Centre, Oxford, UK.; Department of Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Pagnamenta AT; National Institute for Health Research Biomedical Research Centre, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Taylor JC; National Institute for Health Research Biomedical Research Centre, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Thomson KL; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; National Institute for Health Research Biomedical Research Centre, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Wilkie AOM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; National Institute for Health Research Biomedical Research Centre, Oxford, UK.
Knight JC; National Institute for Health Research Biomedical Research Centre, Oxford, UK. .; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2019 Jul 25; Vol. 11 (1), pp. 46. Date of Electronic Publication: 2019 Jul 25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Genetics, Medical*/methods
Genomics*/methods
Interdisciplinary Research*
Rare Diseases/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Clinical Decision-Making ; Computational Biology/methods ; Decision Trees ; Disease Management ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Middle Aged ; Exome Sequencing ; Young Adult