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Wyszukujesz frazę ""Chromosomes, Human, Pair 2"" wg kryterium: Temat


Tytuł :
A Scalable Computational Approach for Simulating Complexes of Multiple Chromosomes.
Autorzy :
Oliveira Junior AB; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; ICTP South American Institute for Fundamental Research, Instituto de Física Teórica, UNESP - 01140-070, São Paulo, SP, Brazil. Electronic address: .
Contessoto VG; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; Instituto de Biociências, Letras e Ciências Exatas, UNESP - Univ. Estadual Paulista, Departamento de Física, São José do Rio Preto, SP, Brazil. Electronic address: .
Mello MF; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; Chemical Engineering Department, Military Institute of Engineering, Rio de Janeiro, RJ, Brazil.
Onuchic JN; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; ICTP South American Institute for Fundamental Research, Instituto de Física Teórica, UNESP - 01140-070, São Paulo, SP, Brazil. Electronic address: .
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Źródło :
Journal of molecular biology [J Mol Biol] 2021 Mar 19; Vol. 433 (6), pp. 166700. Date of Electronic Publication: 2020 Nov 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Molecular Dynamics Simulation*
Software*
Chromatin/*chemistry
Chromosomes, Human, Pair 1/*chemistry
Chromosomes, Human, Pair 2/*chemistry
Chromosomes, Human, Pair 3/*chemistry
Chromosomes, Human, Pair 4/*chemistry
Animals ; Cell Line, Tumor ; Chromatin/metabolism ; Chromatin/ultrastructure ; Chromosomes, Human, Pair 1/metabolism ; Chromosomes, Human, Pair 1/ultrastructure ; Chromosomes, Human, Pair 2/metabolism ; Chromosomes, Human, Pair 2/ultrastructure ; Chromosomes, Human, Pair 3/metabolism ; Chromosomes, Human, Pair 3/ultrastructure ; Chromosomes, Human, Pair 4/metabolism ; Chromosomes, Human, Pair 4/ultrastructure ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Humans ; Lymphocytes/cytology ; Lymphocytes/metabolism ; Saccharum/genetics ; Saccharum/metabolism ; Thermodynamics ; Triticum/genetics ; Triticum/metabolism
Czasopismo naukowe
Tytuł :
Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.
Autorzy :
Lougaris V; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy. Electronic address: .
Malagola M; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Baronio M; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Morello E; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Gazzurelli L; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Benvenuto A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Palumbo L; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
Moratto D; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Girelli MF; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
Chiarini M; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Meini A; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
Turra A; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Bernardi S; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Polverelli N; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Russo D; Unit of Blood Diseases and Stem Cells Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Plebani A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
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Źródło :
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2020 Nov; Vol. 220, pp. 108589. Date of Electronic Publication: 2020 Sep 12.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Haploinsufficiency*
Hematopoietic Stem Cell Transplantation*
CTLA-4 Antigen/*genetics
Common Variable Immunodeficiency/*therapy
Adult ; Alleles ; Common Variable Immunodeficiency/genetics ; Common Variable Immunodeficiency/immunology ; Female ; Humans ; Young Adult
Raport
Tytuł :
Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.
Autorzy :
Moretti PN; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.
Figueiredo ACV; Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.
Saliba A; Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.; Secretaria de Estado de Saúde do Distrito Federal, Brasília, Brazil.
Versiani BR; Secretaria de Estado de Saúde do Distrito Federal, Brasília, Brazil.; Hospital Universitário de Brasília, Brasília, Brazil.
Oliveira SF; Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.; Instituto de Ciências Biológicas, Universidade de Brasília, Brasília, Brazil.
Pic-Taylor A; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.; Instituto de Ciências Biológicas, Universidade de Brasília, Brasília, Brazil.
Mazzeu JF; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.; Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.; Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1861-1864. Date of Electronic Publication: 2020 May 20.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Genotype ; Histone Deacetylases ; Humans ; Penetrance ; Repressor Proteins
SCR Disease Name :
Chromosome 2q37 deletion syndrome
Raport
Tytuł :
[Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite].
Autorzy :
Zhang Z; Henan Provincial Key Laboratory for Children's Genetic and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. .
Zhao S
Song J
Li R
Zhang Y
Li D
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Apr 10; Vol. 38 (4), pp. 373-375.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Translocation, Genetic*
Child ; Chromosomes ; Chromosomes, Human, Pair 2 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male
SCR Disease Name :
Chromosome 2q37 deletion syndrome
Czasopismo naukowe
Tytuł :
Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2-46,XX,del (2)(q31.3; q32.2).
Autorzy :
Pfister R; Department of Cardiovascular Surgery, Lausanne University Hospital (CHUV), CH-1011, Lausanne, Switzerland. .
Knowles C; Department of Cardiovascular Surgery, Lausanne University Hospital (CHUV), CH-1011, Lausanne, Switzerland.
Kirsch M; Department of Cardiovascular Surgery, Lausanne University Hospital (CHUV), CH-1011, Lausanne, Switzerland.
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Źródło :
Journal of cardiothoracic surgery [J Cardiothorac Surg] 2020 Apr 21; Vol. 15 (1), pp. 64. Date of Electronic Publication: 2020 Apr 21.
Typ publikacji :
Case Reports; Journal Article; Video-Audio Media
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Aortic Valve/*pathology
Aortic Valve Insufficiency/*genetics
Aortic Valve Insufficiency/*pathology
Aortic Valve/diagnostic imaging ; Aortic Valve/surgery ; Aortic Valve Insufficiency/diagnostic imaging ; Aortic Valve Insufficiency/surgery ; Female ; Humans ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
[A case with 8q22.2q22.3 deletion syndrome].
Autorzy :
Lei K; Pediatric Institute of Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao 266003, China.
Zhang Y; Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao 266003, China.
Sun Y; Department of Ophthalmology, Affiliated Central Hospital of Qingdao University, Qingdao 266042, China.
Yuan SY; Department of Cerebral Surgery, Affiliated Central Hospital of Qingdao University, Qingdao 266042, China.
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Źródło :
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2020 Jan 02; Vol. 58 (1), pp. 56-57.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Chromosomes, Human, Pair 8*
Humans ; Syndrome
Czasopismo naukowe
Tytuł :
Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse.
Autorzy :
Hadji-Turdeghal K; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Andreasen L; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Hagen CM; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.
Ahlberg G; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Ghouse J; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Bækvad-Hansen M; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.
Bybjerg-Grauholm J; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.
Hougaard DM; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.
Hedley P; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.
Haunsø S; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Svendsen JH; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kanters JK; Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Jepps TA; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Skov MW; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Christiansen M; Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.; Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Olesen MS; Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
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Źródło :
Cardiovascular research [Cardiovasc Res] 2020 Jan 01; Vol. 116 (1), pp. 138-148.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 2*
Polymorphism, Single Nucleotide*
Quantitative Trait Loci*
Kruppel-Like Transcription Factors/*genetics
Syncope/*genetics
Adolescent ; Adult ; Aged ; Case-Control Studies ; Cell Line ; Databases, Factual ; Denmark/epidemiology ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Heredity ; Humans ; Incidence ; Infant, Newborn ; Male ; Middle Aged ; Phenotype ; Risk Assessment ; Risk Factors ; Syncope/diagnosis ; Syncope/epidemiology ; Syncope/physiopathology ; United Kingdom/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.
Autorzy :
Bernstock JD; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Ala.
Totten AH; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Ala.
Elkahloun AG; National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.
Johnson KR; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md.
Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala.
Goldman F; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Ala.
Groves AK; Department of Neuroscience and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala.
Atkinson TP; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Ala. Electronic address: .
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Źródło :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2020 Jan; Vol. 145 (1), pp. 358-367.e2. Date of Electronic Publication: 2019 Oct 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Loss of Function Mutation*
Chromosomes, Human, Pair 2/*genetics
DiGeorge Syndrome/*genetics
Forkhead Transcription Factors/*genetics
Animals ; Chromosomes, Human, Pair 2/immunology ; DiGeorge Syndrome/immunology ; DiGeorge Syndrome/pathology ; Female ; Forkhead Transcription Factors/immunology ; Humans ; Male ; Mice ; Mice, Mutant Strains ; Thymus Gland/immunology ; Thymus Gland/pathology
Czasopismo naukowe
Tytuł :
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Autorzy :
Horga A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos and Instituto de Investigación Sanitaria San Carlos (IdISSC), 28040, Madrid, Spain. .
Manole A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Mitchell AL; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Hargreaves IP; Neurometabolic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Mowafi W; Neurosciences Department, Calderdale Royal Hospital, Halifax, HX3 0PW, UK.
Bettencourt C; Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.
Blakely EL; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
He L; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Polke JM; Neurogenetic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Woodward CE; Neurogenetic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Dalla Rosa I; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Shah S; Lysholm Department of Neuroradiology, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Pittman AM; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Taylor RW; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Holt IJ; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.; Biodonostia Health Research Institute, 20014, San Sebastián, Spain.; Ikerbasque, Basque Foundation for Science, 48013, Bilbao, Spain.
Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Spinazzola A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Houlden H; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK. .
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Źródło :
Molecular biology reports [Mol Biol Rep] 2021 Mar; Vol. 48 (3), pp. 2093-2104. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 2/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Proteins/*genetics
Ribosomal Proteins/*genetics
Uniparental Disomy/*genetics
Adolescent ; Base Sequence ; Brain/diagnostic imaging ; Brain/pathology ; Child, Preschool ; Female ; Fibroblasts/pathology ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Mitochondrial Diseases/pathology ; Muscle, Skeletal/metabolism ; Mutation/genetics ; Oxidative Phosphorylation ; Protein Biosynthesis ; Young Adult
Czasopismo naukowe
Tytuł :
Duplication 2p16 is associated with perisylvian polymicrogyria.
Autorzy :
Amrom D; Neurogenetics Unit, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium.
Poduri A; Division of Epilepsy & Clinical Neurophysiology, Children's Hospital, Boston, Massachusetts.; Department of Neurology, Children's Hospital, Boston, Massachusetts.
Goldman JS; Ludmer Centre for Neuroinformatics and Mental Health and the Department of Biomedical Engineering, McGill Centre for Integrative Neuroscience, McGill University, Montreal, Quebec, Canada.
Dan B
Deconinck N
Pichon B; Department of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Nadaf J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Genome Quebec Innovation Center, McGill University, Montreal, Quebec, Canada.
Andermann F; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Epilepsy Research Group, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.
Andermann E; Neurogenetics Unit, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Epilepsy Research Group, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Walsh CA; Department of Neurology, Children's Hospital, Boston, Massachusetts.; Division of Genetics and Manton Center for Orphan Disease Research, Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts.
Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, and Seattle Children's Research Institute, Seattle, Washington.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2343-2356. Date of Electronic Publication: 2019 Oct 29.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 2*
Genetic Association Studies*
Genetic Predisposition to Disease*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Malformations of Cortical Development/*diagnosis
Malformations of Cortical Development/*genetics
Adolescent ; Brain/abnormalities ; Brain/diagnostic imaging ; Comparative Genomic Hybridization ; Computational Biology/methods ; Facies ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Phenotype
SCR Disease Name :
Perisylvian syndrome
Czasopismo naukowe
Tytuł :
Whole Genome Mate-pair Sequencing of Plasma Cell Neoplasm as a Novel Diagnostic Strategy: A Case of Unrecognized t(2;11) Structural Variation.
Autorzy :
Peterson JF; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Meyer RG; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Smoley SA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Webley M; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Smadbeck JB; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Scottsdale, AZ.
Vasmatzis G; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Scottsdale, AZ.
Pearce K; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Greipp PT; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Ketterling RP; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Craig FE; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Scottsdale, AZ.
Stewart AK; Division of Hematology and Oncology, Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ.
Baughn LB; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: .
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Źródło :
Clinical lymphoma, myeloma & leukemia [Clin Lymphoma Myeloma Leuk] 2019 Sep; Vol. 19 (9), pp. 598-602. Date of Electronic Publication: 2019 Jun 18.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 2*
Translocation, Genetic*
Whole Genome Sequencing*
Neoplasms, Plasma Cell/*diagnosis
Neoplasms, Plasma Cell/*genetics
Biopsy ; Bone Marrow/pathology ; Female ; Gene Rearrangement ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Middle Aged
Czasopismo naukowe
Tytuł :
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.
Autorzy :
Souzeau E; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
Dubowsky A; SA Pathology, Flinders Medical Centre, Adelaide, South Australia, Australia.
Ruddle JB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.; Department of Ophthalmology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Craig JE; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Aug; Vol. 7 (8), pp. e774. Date of Electronic Publication: 2019 Jun 28.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 2*
Cytochrome P-450 CYP1B1/*genetics
Genetic Predisposition to Disease/*genetics
Glaucoma/*congenital
Glaucoma/*genetics
Uniparental Disomy/*genetics
Adolescent ; Australia ; Exons ; Gene Deletion ; Gene Dosage ; Glaucoma/diagnostic imaging ; Heterozygote ; Homozygote ; Humans ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus.
Autorzy :
Abida O; 'Autoimmunity, Cancer And Immunogenetics' research laboratory (LR18SP12), Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Bahloul E; Dermatology Department, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Ben Jmaa M; 'Autoimmunity, Cancer And Immunogenetics' research laboratory (LR18SP12), Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Sellami K; Dermatology Department, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Zouidi F; 'Autoimmunity, Cancer And Immunogenetics' research laboratory (LR18SP12), Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Fakhfakh R; 'Autoimmunity, Cancer And Immunogenetics' research laboratory (LR18SP12), Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Mahfoudh N; Immunology Department, HediChaker Hospital, University of Sfax, Sfax, Tunisia.
Turki H; Dermatology Department, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Masmoudi H; 'Autoimmunity, Cancer And Immunogenetics' research laboratory (LR18SP12), Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1476. Date of Electronic Publication: 2020 Sep 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
CTLA-4 Antigen/*genetics
Inducible T-Cell Co-Stimulator Protein/*genetics
Pemphigus/*genetics
CD28 Antigens/genetics ; Chromosomes, Human, Pair 2/genetics ; Humans ; Tunisia
Czasopismo naukowe
Tytuł :
Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.
Autorzy :
Sherer DM; The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
Hsieh V; The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
Granderson F; The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
Aroh B; The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
Dalloul M; The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, New York, USA.
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Źródło :
Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2020 Oct; Vol. 48 (8), pp. 486-488. Date of Electronic Publication: 2020 May 24.
Typ publikacji :
Case Reports
MeSH Terms :
Craniofacial Abnormalities/*genetics
Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 2 ; Craniofacial Abnormalities/diagnostic imaging ; Face/abnormalities ; Face/diagnostic imaging ; Female ; Fetus/diagnostic imaging ; Humans ; Infant, Newborn ; Male ; Mutation ; Nasal Bone/abnormalities ; Nasal Bone/diagnostic imaging ; Nerve Tissue Proteins/genetics ; Pregnancy ; Transcription Factors/genetics ; Ultrasonography, Prenatal
Raport
Tytuł :
8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features.
Autorzy :
LaBranche JTN; Departments of Medical Genetics.; Pediatrics, University of Calgary.
Argiropoulos B; Departments of Medical Genetics.; Cytogenetics Laboratory, Alberta Public Laboratories, Calgary, Alberta, Canada.
Thomas MA; Departments of Medical Genetics.; Pediatrics, University of Calgary.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Oct; Vol. 29 (4), pp. 207-209.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 8*
Genetic Association Studies*
Phenotype*
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Child ; Chromosomes, Human, Pair 2 ; Comparative Genomic Hybridization ; Facies ; Genetic Testing ; Humans ; Male
SCR Disease Name :
Chromosome 2, monosomy 2p22
Czasopismo naukowe
Tytuł :
[Phenotypic and genotypic analysis of a girl carrying a 2q22.3 microduplication encompassing the MBD5 gene].
Autorzy :
He X; Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China. Email: .
Huang Y; Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China. Email: .
Luo S; Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China. Email: .
Cai X; Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China. Email: .
Zeng C; Department of Rehabilitation, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China.
Lin J; Department of Rehabilitation, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China.
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Jun 10; Vol. 36 (6), pp. 624-627.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
DNA-Binding Proteins/*genetics
Child ; DNA Copy Number Variations ; Female ; Genotype ; Humans ; Kinesin ; Phenotype
Czasopismo naukowe
Tytuł :
Gain of the short arm of chromosome 2 (2p gain) has a significant role in drug-resistant chronic lymphocytic leukemia.
Autorzy :
Kostopoulou F; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.; Molecular Diagnostics Laboratory, KARYO Ltd, Thessaloniki, Greece.
Gabillaud C; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Chapiro E; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.; INSERM U1138, Centre de Recherche des Cordeliers, Sorbonne Université, Paris, France.
Grange B; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Tran J; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Bouzy S; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Degaud M; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Ghamlouch H; Gustave Roussy, INSERM U1170, Université Paris-Saclay, Villejuif, France.
Le Garff-Tavernier M; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.; INSERM U1138, Centre de Recherche des Cordeliers, Sorbonne Université, Paris, France.
Maloum K; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Choquet S; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Leblond V; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Gabarre J; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Lavaud A; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Morel V; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Roos-Weil D; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Uzunov M; Service d'Hématologie Clinique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Guieze R; Service d'Hématologie Clinique et de Thérapie Cellulaire, Université Clermont Auvergne, Clermont-Ferrand, France.
Bernard OA; Gustave Roussy, INSERM U1170, Université Paris-Saclay, Villejuif, France.
Susin SA; INSERM U1138, Centre de Recherche des Cordeliers, Sorbonne Université, Paris, France.
Tournilhac O; Service d'Hématologie Clinique et de Thérapie Cellulaire, Université Clermont Auvergne, Clermont-Ferrand, France.
Nguyen-Khac F; Service d'Hématologie Biologique, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.; INSERM U1138, Centre de Recherche des Cordeliers, Sorbonne Université, Paris, France.
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Corporate Authors :
French Innovative Leukemia Organization (FILO) group
Źródło :
Cancer medicine [Cancer Med] 2019 Jun; Vol. 8 (6), pp. 3131-3141. Date of Electronic Publication: 2019 May 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 2*
Antineoplastic Agents/*pharmacology
Drug Resistance, Neoplasm/*genetics
Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
Adult ; Aged ; Antineoplastic Agents/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Chromosome Aberrations ; Female ; Humans ; Immunoglobulin Variable Region/genetics ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis ; Leukemia, Lymphocytic, Chronic, B-Cell/drug therapy ; Leukemia, Lymphocytic, Chronic, B-Cell/mortality ; Longitudinal Studies ; Male ; Middle Aged ; Mutation ; Polymorphism, Single Nucleotide ; Prognosis ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Recurrence ; Time-to-Treatment ; Treatment Outcome
Czasopismo naukowe
Tytuł :
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
Autorzy :
Karoglan A; Department of Dermatology, University Hospital Magdeburg, University of Magdeburg, Magdeburg, Germany.; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Schanze D; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Bär C; Department of Dermatology, University Hospital Magdeburg, University of Magdeburg, Magdeburg, Germany.; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Muschke P; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Zenker M; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Schanze I; Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 May; Vol. 179 (5), pp. 832-836. Date of Electronic Publication: 2019 Feb 25.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Genetic Association Studies*
Genetic Predisposition to Disease*
Adaptor Proteins, Signal Transducing/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Child, Preschool ; Comparative Genomic Hybridization ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Phenotype ; Siblings
Raport
Tytuł :
Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations.
Autorzy :
Fonseca H; Programa de Pós Graduação em Imunologia (PPGIm), Instituto de Ciências da Saúde, Universidade Federal da Bahia (UFBA), Salvador 40140-100, BA, Brazil.
da Silva TM; Departamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, Jequié 45206-190, BA, Brazil.
Saraiva M; Programa de Pós Graduação em Imunologia (PPGIm), Instituto de Ciências da Saúde, Universidade Federal da Bahia (UFBA), Salvador 40140-100, BA, Brazil.
Santolalla ML; Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil.
Sant'Anna HP; Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil.
Araujo NM; Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil.
Lima NP; Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas 96020-220, Rio Grande do Sul, Brazil.
Rios R; Programa de Pós Graduação em Imunologia (PPGIm), Instituto de Ciências da Saúde, Universidade Federal da Bahia (UFBA), Salvador 40140-100, BA, Brazil.
Tarazona-Santos E; Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil.
Horta BL; Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas 96020-220, Rio Grande do Sul, Brazil.
Cruz A; ProAR, Faculdade de Medicina, Universidade Federal da Bahia (UFBA), Salvador 40060-330, BA, Brazil.
Barreto ML; Centro de Integração de dados e Conhecimentos para Saúde (CIDACS), Fiocruz, Salvador 41745-715, BA, Brazil.
Figueiredo CA; Departamento de Bio-Regulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia (UFBA), Salvador 40110-902, BA, Brazil.
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Źródło :
Genes [Genes (Basel)] 2020 Sep 04; Vol. 11 (9). Date of Electronic Publication: 2020 Sep 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
Quantitative Trait Loci*
African Americans/*genetics
Chromosomes, Human, Pair 10/*genetics
Chromosomes, Human, Pair 17/*genetics
Chromosomes, Human, Pair 2/*genetics
Lung Diseases/*physiopathology
Brazil/epidemiology ; Chromosome Mapping ; European Continental Ancestry Group/genetics ; Forced Expiratory Volume ; Genomics ; Humans ; Lung Diseases/epidemiology ; Lung Diseases/genetics ; Respiratory Function Tests
Czasopismo naukowe
Tytuł :
Anxiety risk SNPs on chromosome 2 modulate arousal in children in a fear generalization paradigm.
Autorzy :
Reinhard J; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany. .
Drepper C; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
Weber H; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.; Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital of Frankfurt, Frankfurt, Germany.
Schiele MA; Department of Psychiatry and Psychotherapy, Medical Center, Faculty of Medicine, University of Freiburg, University of Freiburg, Freiburg, Germany.
Kneer K; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
Mittermeier A; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
Frey L; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
Reif A; Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital of Frankfurt, Frankfurt, Germany.
Pauli P; Department of Psychology (Biological Psychology, Clinical Psychology and Psychotherapy), University of Würzburg, Würzburg, Germany.
Domschke K; Department of Psychiatry and Psychotherapy, Medical Center, Faculty of Medicine, University of Freiburg, University of Freiburg, Freiburg, Germany.
Deckert J; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
Romanos M; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
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Źródło :
European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2020 Sep; Vol. 29 (9), pp. 1301-1310. Date of Electronic Publication: 2019 Dec 21.
Typ publikacji :
Journal Article
MeSH Terms :
Anxiety Disorders/*psychology
Chromosomes, Human, Pair 2/*genetics
Fear/*psychology
Generalization, Psychological/*physiology
Polymorphism, Single Nucleotide/*genetics
Child ; Female ; Genotyping Techniques ; Humans ; Male
Czasopismo naukowe

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