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Tytuł:
A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.
Autorzy:
Li H; Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Wang L; Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Zhang C; Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Feb; Vol. 11 (2), pp. e2110. Date of Electronic Publication: 2022 Dec 04.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 2*
Uniparental Disomy*
Male ; Child ; Humans ; Exome Sequencing ; Fathers
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of a Branch Number Locus in Soybean Using BSA-Seq and GWAS Approaches.
Autorzy:
Dai D; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Huang L; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Zhang X; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Zhang S; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Yuan Y; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Wu G; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Hou Y; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Yuan X; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Chen X; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
Xue C; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 10; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 10.
Typ publikacji:
Journal Article
MeSH Terms:
Glycine max*/genetics
Genome-Wide Association Study*
Humans ; Chromosomes, Human, Pair 2 ; Genetic Engineering ; Molecular Sequence Annotation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.
Autorzy:
Xing L; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Shen Y; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Wei X; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Luo Y; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Yang Y; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Liu H; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Liu H; Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Sep; Vol. 10 (9), pp. e2011. Date of Electronic Publication: 2022 Jun 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Nanopore Sequencing*
Female ; Humans ; Pregnancy ; Chromosome Aberrations ; Chromosomes, Human, Pair 2 ; Pyridinolcarbamate
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluating approaches to find exon chains based on long reads.
Autorzy:
Kuosmanen A; Helsinki Institute for Information Technology HIIT, Department of Computer Science, University of Helsinki, Helsinki, Finland.
Norri T; Helsinki Institute for Information Technology HIIT, Department of Computer Science, University of Helsinki, Helsinki, Finland.
Mäkinen V; Helsinki Institute for Information Technology HIIT, Department of Computer Science, University of Helsinki, Helsinki, Finland.
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Źródło:
Briefings in bioinformatics [Brief Bioinform] 2018 May 01; Vol. 19 (3), pp. 404-414.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 2*
Exons*
RNA Splicing*
Computational Biology/*methods
High-Throughput Nucleotide Sequencing/*methods
Sequence Analysis, DNA/*methods
Gene Expression Profiling ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Autorzy:
Mullegama SV; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX, 77304, USA.
Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Williams SR; 10X Genomics, San Francisco, CA, USA.
Innis JW; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, 48109, USA.
Probst FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC, 28803, USA.
Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Yang Y; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, FL, 33612, USA.
Tian Y; Division of Animal Sciences and Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA.
Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Ezashi T; Division of Animal Sciences and Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 May 28; Vol. 11 (1), pp. 11295. Date of Electronic Publication: 2021 May 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Autism Spectrum Disorder/*genetics
DNA-Binding Proteins/*genetics
Neurodevelopmental Disorders/*genetics
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Autism Spectrum Disorder/metabolism ; Autistic Disorder/genetics ; Cell Differentiation/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 2/genetics ; Chromosomes, Human, Pair 2/metabolism ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/metabolism ; DNA-Binding Proteins/metabolism ; Gene Expression/genetics ; Gene Expression Profiling/methods ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Neural Stem Cells/metabolism ; Neurodevelopmental Disorders/metabolism ; Phenotype ; Primary Cell Culture ; RNA-Seq ; Signal Transduction/genetics ; Transcriptome/genetics
SCR Disease Name:
Chromosome 2q31.2 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia.
Autorzy:
Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Dassie F; Department of Medicine (DIMED), University of Padua, 35121 Padua, Italy.
Mayer AK; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Kühlewein L; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.; Centre for Ophthalmology, University Eye Hospital, University Tübingen, 72076 Tübingen, Germany.
Wissinger B; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Maffei P; Department of Medicine (DIMED), University of Padua, 35121 Padua, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Fathers*
Mutation*
Uniparental Disomy*
Chromosomes, Human, Pair 2/*genetics
Color Vision Defects/*pathology
Cyclic Nucleotide-Gated Cation Channels/*genetics
Adolescent ; Color Vision Defects/genetics ; Female ; Genes, Recessive ; Humans ; Male ; Pedigree ; Phenotype
SCR Disease Name:
Achromatopsia 3
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability.
Autorzy:
Malbin J; Azerbaijan National Academy of Science (ANAS), Genetic Resources Institute, Baku AZ1005, Azerbaijan. .
Fallah MS
Sharifi Z
Shafaei M
Bagherian H
Mostafaei TP
Aliev R
Zainal S
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Źródło:
Journal of genetics [J Genet] 2016 Jun; Vol. 95 (2), pp. 441-5.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Intellectual Disability/*genetics
Seizures/*genetics
Adult ; Comparative Genomic Hybridization ; Female ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/physiopathology ; Nucleic Acid Amplification Techniques ; Pedigree ; Seizures/diagnosis ; Seizures/physiopathology ; Self-Injurious Behavior/physiopathology ; Speech Intelligibility
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
Autorzy:
Monfort S; Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain.
Orellana C; Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain.
Oltra S; Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain.; Department of Genetics, University of Valencia, Valencia, Spain.
Rosello M; Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain.
Caro-Llopis A; Genomics Unit, Instituto de Investigacion Sanitaria La Fe, Valencia, Spain.
Martinez F; Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain. .; Genomics Unit, Instituto de Investigacion Sanitaria La Fe, Valencia, Spain. .
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Źródło:
Scientific reports [Sci Rep] 2021 Mar 24; Vol. 11 (1), pp. 6752. Date of Electronic Publication: 2021 Mar 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Genetic Predisposition to Disease*
Fertilization in Vitro/*adverse effects
Oocytes/*metabolism
Reproductive Techniques, Assisted/*adverse effects
Reproductive Techniques, Assisted/*statistics & numerical data
Child ; Chromosomes, Human, Pair 2 ; Female ; Humans ; Karyotyping ; Male ; Oocytes/cytology ; Polymorphism, Single Nucleotide ; Prevalence ; Risk Assessment ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
Autorzy:
Yoon KJ; Department of Physical & Rehabilitation Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea.; Medical Research Institute, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea.; Biomedical Institute for Convergence at SKKU, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.; Department of Clinical Research Design & Evaluation, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea.
Yi Y; Department of Physical & Rehabilitation Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea.
Do JG; Department of Physical & Rehabilitation Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea.
Kim HL; Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul, Republic of Korea.
Lee YT; Department of Physical & Rehabilitation Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea. .; Medical Research Institute, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea. .
Kim HN; Medical Research Institute, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea. .; Department of Clinical Research Design & Evaluation, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea. .
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Źródło:
Scientific reports [Sci Rep] 2021 Mar 05; Vol. 11 (1), pp. 2333. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Polymorphism, Single Nucleotide*
Chromosomes, Human, Pair 2/*genetics
Muscle Proteins/*genetics
Muscle, Skeletal/*metabolism
Telomere-Binding Proteins/*genetics
Adult ; Aged ; Aging/genetics ; Aging/metabolism ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Republic of Korea/epidemiology ; Sarcopenia/epidemiology ; Sarcopenia/genetics ; Sarcopenia/metabolism ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Aberrations Involving Chromosome 1 as a Possible Predictor of Odds Ratio for Colon Cancer--Results from the Krakow Case-Control Study.
Autorzy:
Galas A; Department of Epidemiology, Jagiellonian University-Medical College, Krakow, Poland.
Miszczyk J; Department of Experimental Physics of Complex Systems, Institute of Nuclear Physics, Polish Academy of Sciences, Krakow, Poland.
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Źródło:
PloS one [PLoS One] 2016 Jan 29; Vol. 11 (1), pp. e0147658. Date of Electronic Publication: 2016 Jan 29 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 2*
Chromosomes, Human, Pair 4*
Colorectal Neoplasms/*diagnosis
Colorectal Neoplasms/*genetics
Aged ; Asymptomatic Diseases ; Case-Control Studies ; Chromosome Painting ; Colorectal Neoplasms/blood ; Colorectal Neoplasms/pathology ; Early Diagnosis ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Leukocytes, Mononuclear/chemistry ; Leukocytes, Mononuclear/pathology ; Male ; Middle Aged ; Odds Ratio ; Poland ; Risk
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.
Autorzy:
Labbé C; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Ogaki K; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Lorenzo-Betancor O; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Carrasquillo MM; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Heckman MG; Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, United States of America.
McCarthy A; Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland.
Soto-Ortolaza AI; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Lynch T; Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland.
Siuda J; Department of Neurology, Medical University of Silesia, Katowice, Poland.
Opala G; Department of Neurology, Medical University of Silesia, Katowice, Poland.
Krygowska-Wajs A; Department of Neurology, Jagiellonian University, Krakow, Poland.
Barcikowska M; Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Czyzewski K; Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland.
Dickson DW; Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America; Department of Pathology, Mayo Clinic, Jacksonville, Florida, United States of America.
Uitti RJ; Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America.
Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America.
Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
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Źródło:
PloS one [PLoS One] 2015 Jun 19; Vol. 10 (6), pp. e0128586. Date of Electronic Publication: 2015 Jun 19 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 2*
Exons*
Genetic Association Studies*
Quantitative Trait Loci*
Parkinson Disease/*genetics
Aged ; Aged, 80 and over ; Alleles ; Case-Control Studies ; Female ; Genome-Wide Association Study ; Haplotypes ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Protein Serine-Threonine Kinases/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.
Autorzy:
Cousminer DL; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Leinonen JT; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Sarin AP; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland; Public Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland.
Chheda H; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Surakka I; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Wehkalampi K; Diabetes Prevention Unit, National Institute for Health and Welfare, Helsinki, Finland; Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Ellonen P; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Ripatti S; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland; Department of Public Health, Hjelt Institute, University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, United Kingdom.
Palotie A; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; The Medical and Population Genomics Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States of America.
Widén E; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
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Źródło:
PloS one [PLoS One] 2015 Jun 01; Vol. 10 (6), pp. e0128524. Date of Electronic Publication: 2015 Jun 01 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Centromere*
Chromosomes, Human, Pair 2*
Growth/*genetics
Puberty/*genetics
Adolescent ; Exome ; Female ; Genome, Human ; Humans ; Male ; Pedigree ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.
Autorzy:
Alfieri P; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Scibelli F; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Sinibaldi L; Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Valeri G; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Caciolo C; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Novello RL; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Digilio MC; Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Vicari S; Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Catholic University, Rome, Italy.
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Źródło:
Genes, brain, and behavior [Genes Brain Behav] 2020 Sep; Vol. 19 (7), pp. e12687. Date of Electronic Publication: 2020 Aug 26.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Penetrance*
Calcium-Binding Proteins/*genetics
Chromosomes, Human, Pair 2/*genetics
Developmental Disabilities/*physiopathology
Intellectual Disability/*physiopathology
Neural Cell Adhesion Molecules/*genetics
Adolescent ; Child ; Child, Preschool ; Cognition ; Developmental Disabilities/genetics ; Developmental Disabilities/psychology ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/psychology ; Male ; Parents/psychology ; Social Skills ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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. Reinhard_.
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A translocation t(2;14)(p11.2;q32) involving rearrangements of immunoglobulin heavy chain and kappa light chain genes in B-cell lymphoma.
Autorzy:
Subramaniyam S; a Department of Pathology and Laboratory Medicine , Weill Cornell Medical College/NewYork Presbyterian Hospital , New York , NY , USA.
Geyer JT; a Department of Pathology and Laboratory Medicine , Weill Cornell Medical College/NewYork Presbyterian Hospital , New York , NY , USA.
Liu YC; a Department of Pathology and Laboratory Medicine , Weill Cornell Medical College/NewYork Presbyterian Hospital , New York , NY , USA.
Mathew S; a Department of Pathology and Laboratory Medicine , Weill Cornell Medical College/NewYork Presbyterian Hospital , New York , NY , USA.
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Źródło:
Leukemia & lymphoma [Leuk Lymphoma] 2015; Vol. 56 (10), pp. 2992-4. Date of Electronic Publication: 2015 May 12.
Typ publikacji:
Case Reports; Letter; Review
MeSH Terms:
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 2*
Gene Rearrangement, B-Lymphocyte*
Translocation, Genetic*
Immunoglobulin Heavy Chains/*genetics
Immunoglobulin kappa-Chains/*genetics
Lymphoma, B-Cell/*genetics
Aged, 80 and over ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell/diagnosis ; Male ; Middle Aged
Recenzja
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Role of 9p21 and 2q36 variants and arterial stiffness in the prediction of coronary artery disease.
Autorzy:
Vakalis K; Michaelidion Cardiac Center and Department of Cardiology, Medical School, University of Ioannina, Ioannina, Greece.
Bechlioulis A
Naka KK
Chatzikyriakidou A
Gartzonika K
Vezyraki P
Kolios G
Pappas K
Katsouras CS
Georgiou I
Michalis LK
Pokaż więcej
Źródło:
European journal of clinical investigation [Eur J Clin Invest] 2014 Aug; Vol. 44 (8), pp. 784-94.
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 2*
Chromosomes, Human, Pair 9*
Coronary Artery Disease/*genetics
Polymorphism, Genetic/*genetics
Vascular Stiffness/*genetics
Coronary Artery Disease/diagnosis ; Cross-Sectional Studies ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Prospective Studies ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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