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Tytuł:
Genomics and tumor microenvironment of breast mucoepidermoid carcinoma based on whole-exome and RNA sequencing.
Autorzy:
Ge Y; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .; Department of Pathology, Guangdong Provincial People' s Hospital Ganzhou Hospital (Ganzhou Municipal Hospital), 49 Dagong Road, Zhanggong District, Ganzhou, China. .
Lin X; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
He J; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Chen W; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Lin D; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Zheng Y; Department of Pathology, Guangdong Provincial People' s Hospital Ganzhou Hospital (Ganzhou Municipal Hospital), 49 Dagong Road, Zhanggong District, Ganzhou, China.
Yang L; Geneseeq Research Institute, Geneseeq Technology Inc., Nanjing, China.
Xu F; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .
Li Z; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .
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Źródło:
Diagnostic pathology [Diagn Pathol] 2024 Jan 19; Vol. 19 (1), pp. 15. Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:
Journal Article
MeSH Terms:
Carcinoma, Mucoepidermoid*/genetics
Carcinoma, Mucoepidermoid*/pathology
Breast Neoplasms*/genetics
Salivary Gland Neoplasms*/genetics
Salivary Gland Neoplasms*/pathology
Humans ; Female ; DNA-Binding Proteins/genetics ; Trans-Activators/genetics ; Retrospective Studies ; Exome ; Exome Sequencing ; Tumor Microenvironment ; Transcription Factors/genetics ; Genomics ; Sequence Analysis, RNA ; Eye Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family.
Autorzy:
Kina BG; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
Topbas Selcuki NF; Department of Obstetrics and Gynecology, Istanbul Sisli Hamidiye Etfal Training and Research Hospital, University of Health Sciences Turkiye, Istanbul, Turkey.
Bahat PY; Department of Obstetrics and Gynecology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, University of Health Sciences Turkiye, Istanbul, Turkey.
Usta T; Department of Obstetrics and Gynecology, Acibadem Altunizade Hospital, Mehmet Ali Aydinlar University, Istanbul, Turkey.
Aydin S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
Rahmioglu N; Oxford Endometriosis Care Centre, Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Tuncer FN; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Oral E; Department of Obstetrics and Gynecology, Bezmialem Vakif University, Istanbul, Turkey.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2312. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:
Journal Article
MeSH Terms:
Endometriosis*/genetics
Humans ; Female ; Exome Sequencing ; Exome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Autorzy:
Cho A; Department of Ophthalmology, Columbia University, New York, NY, USA.; Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.
Lima de Carvalho JR Jr; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares (EBSERH) - Hospital das Clinicas de Pernambuco (HCPE), Federal University of Pernambuco (UFPE), Recife, Brazil.; Department of Ophthalmology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Tanaka AJ; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Medical Center, New York, NY, USA.
Jauregui R; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.; Weill Cornell Medical College, New York, NY, USA.
Levi SR; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Mahajan VB; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.; Veterans Affairs Palo Alto Health Care Systems, Palo Alto, CA, USA.
Tsang SH; Department of Ophthalmology, Columbia University, New York, NY, USA. .; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA. .; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Medical Center, New York, NY, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jan 30; Vol. 15 (1), pp. 32. Date of Electronic Publication: 2020 Jan 30.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Retinitis Pigmentosa*/genetics
ATP-Binding Cassette Transporters ; Comparative Genomic Hybridization ; Eye Proteins ; Genetic Testing ; Humans ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
Autorzy:
Zhu N; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA.
Pauciulo MW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Welch CL; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Lutz KA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.
Coleman AW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Wang J; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA.
Grimes JM; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Martin LJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
He H; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.
Shen Y; Department of Systems Biology, Columbia University, New York, NY, USA.; Department of Biomedical Informatics, Columbia University, New York, NY, USA.
Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.; Department of Medicine, Columbia University Medical Center, New York, NY, USA.
Nichols WC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA. .; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA. .
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Corporate Authors:
PAH Biobank Enrolling Centers’ Investigators
Źródło:
Genome medicine [Genome Med] 2019 Nov 14; Vol. 11 (1), pp. 69. Date of Electronic Publication: 2019 Nov 14.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Exome*
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Pulmonary Arterial Hypertension/*genetics
Adult ; Age of Onset ; Aged ; Biomarkers ; Female ; Gene Expression Profiling ; Genetic Variation ; Hemodynamics ; Humans ; Male ; Middle Aged ; Pulmonary Arterial Hypertension/diagnosis ; Pulmonary Arterial Hypertension/physiopathology ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Autorzy:
Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tsai EA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Genomics and Computational Biology Graduate Group, The University of Pennsylvania, Philadelphia, PA, USA.; Genetic Epidemiology Group, Department of Translational Biology, Biogen, Cambridge, MA, USA.
Grochowski CM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kelly SM; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Loomes KM; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Devoto M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. .; Department of Translational and Precision Medicine, University La Sapienza, Rome, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2020 Feb 17; Vol. 10 (1), pp. 2709. Date of Electronic Publication: 2020 Feb 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Exome*
Mutation, Missense*
Biliary Atresia/*diagnosis
HSP90 Heat-Shock Proteins/*genetics
Heat-Shock Proteins/*genetics
Nucleotidyltransferases/*genetics
Biliary Atresia/genetics ; Biliary Atresia/metabolism ; Biliary Atresia/pathology ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Gene Expression ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; HSP90 Heat-Shock Proteins/metabolism ; Heat-Shock Proteins/metabolism ; Humans ; Male ; Nucleotidyltransferases/metabolism ; Polymorphism, Single Nucleotide ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Whole transcriptome sequencing analyses of islets reveal ncRNA regulatory networks underlying impaired insulin secretion and increased β-cell mass in high fat diet-induced diabetes mellitus.
Autorzy:
Ma J; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China.; Center for Diabetes and Metabolism Research, West China Hospital, Sichuan University, Chengdu, China.
Gao R; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
Xie Q; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China.; Center for Diabetes and Metabolism Research, West China Hospital, Sichuan University, Chengdu, China.
Pan X; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China.; Center for Diabetes and Metabolism Research, West China Hospital, Sichuan University, Chengdu, China.
Tong N; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China.; Center for Diabetes and Metabolism Research, West China Hospital, Sichuan University, Chengdu, China.
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Źródło:
PloS one [PLoS One] 2024 Apr 01; Vol. 19 (4), pp. e0300965. Date of Electronic Publication: 2024 Apr 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
RNA, Long Noncoding*/genetics
RNA, Long Noncoding*/metabolism
MicroRNAs*/genetics
MicroRNAs*/metabolism
Diabetes Mellitus*
Mice ; Animals ; Diet, High-Fat/adverse effects ; RNA, Circular/metabolism ; Insulin Secretion ; Exome Sequencing ; Mice, Inbred C57BL ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Obesity/genetics ; Gene Regulatory Networks ; Calcium Channels, N-Type/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.
Autorzy:
Cornelis C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Medical Humanities, Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Tibben A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Bolt I; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
van Summeren M; Department of General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.
Knoers N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Bredenoord AL; Department of Medical Humanities, Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Erasmus School of Philosophy, Erasmus University Rotterdam, Rotterdam, The Netherlands.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2341. Date of Electronic Publication: 2024 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
Disclosure*
Attitude*
Child ; Humans ; Child, Preschool ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel batch-effect correction method for scRNA-seq data based on Adversarial Information Factorization.
Autorzy:
Monnier L; Paris-Saclay University, CentraleSupélec, Laboratory of Mathematics and Computer Science (MICS), Gif-sur-Yvette, France.
Cournède PH; Paris-Saclay University, CentraleSupélec, Laboratory of Mathematics and Computer Science (MICS), Gif-sur-Yvette, France.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2024 Feb 22; Vol. 20 (2), pp. e1011880. Date of Electronic Publication: 2024 Feb 22 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Single-Cell Gene Expression Analysis*
Single-Cell Analysis*/methods
Humans ; Cluster Analysis ; Exome Sequencing ; Benchmarking ; Sequence Analysis, RNA/methods ; Gene Expression Profiling ; Algorithms
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
cnnImpute: missing value recovery for single cell RNA sequencing data.
Autorzy:
Zhang W; MidSouth Bioinformatics Center and Joint Bioinformatics Graduate Program, University of Arkansas at Little Rock, University of Arkansas for Medical Sciences, Little Rock, 72204, AR, USA.; Department of Information Science, University of Arkansas at Little Rock, Little Rock, 72204, AR, USA.
Huckaby B; Department of Computer Science, University of Arkansas at Little Rock, Little Rock, 72204, AR, USA.
Talburt J; Department of Information Science, University of Arkansas at Little Rock, Little Rock, 72204, AR, USA.
Weissman S; Department of Genetics, Yale School of Medicine, New Haven, 06520, CT, USA.
Yang MQ; MidSouth Bioinformatics Center and Joint Bioinformatics Graduate Program, University of Arkansas at Little Rock, University of Arkansas for Medical Sciences, Little Rock, 72204, AR, USA. .; Department of Information Science, University of Arkansas at Little Rock, Little Rock, 72204, AR, USA. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 16; Vol. 14 (1), pp. 3946. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Expression Profiling*/methods
Single-Cell Analysis*/methods
Sequence Analysis, RNA/methods ; Exome Sequencing ; Probability ; Cluster Analysis ; RNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genome sequencing as a generic diagnostic strategy for rare disease.
Autorzy:
Schobers G; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Derks R; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
den Ouden A; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Swinkels H; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bosgoed E; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Lugtenberg D; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Sun SM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Corominas Galbany J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Weiss M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Olde Keizer RACM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Hofste T; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Hellebrekers D; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
de Leeuw N; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Ligtenberg MJL; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bradley XZ; Illumina Inc., Cambridge, UK.
Peden J; Illumina Inc., Cambridge, UK.
Gutierrez A; Illumina Inc., Cambridge, UK.
Pullen A; Illumina Inc., Cambridge, UK.
Payne T; Illumina Inc., Cambridge, UK.
Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Nelen M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Yntema HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands. .; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands. .
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Źródło:
Genome medicine [Genome Med] 2024 Feb 14; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Rare Diseases*/diagnosis
Rare Diseases*/genetics
High-Throughput Nucleotide Sequencing*
Humans ; Whole Genome Sequencing ; Base Sequence ; Chromosome Mapping ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.
Autorzy:
Lawrence-Paul MR; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Abramson Family Cancer Research Institute, Philadelphia, USA.; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Pan TC; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Abramson Family Cancer Research Institute, Philadelphia, USA.; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Pant DK; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Abramson Family Cancer Research Institute, Philadelphia, USA.; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Shih NNC; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Chen Y; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Abramson Family Cancer Research Institute, Philadelphia, USA.; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Belka GK; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Abramson Family Cancer Research Institute, Philadelphia, USA.; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Feldman M; 2-PREVENT Translational Center of Excellence, Philadelphia, USA.; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
DeMichele A; 2-PREVENT Translational Center of Excellence, Philadelphia, USA. .; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. .; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. .
Chodosh LA; 2-PREVENT Translational Center of Excellence, Philadelphia, USA. .; Abramson Family Cancer Research Institute, Philadelphia, USA. .; Department of Cancer Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. .; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. .
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Źródło:
Genome medicine [Genome Med] 2024 Feb 06; Vol. 16 (1), pp. 26. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/genetics
Humans ; Female ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cronkhite‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of colonic polyps.
Autorzy:
Liu S; Department of Allergy, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, 100730, Beijing, People's Republic of China.
Zhi Y; Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, 100730, People's Republic of China.
Zhang R; Department of Internal Medicine, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, 100730, Beijing, China.
You Y; Department of Pathology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, 100730, Beijing, People's Republic of China.
You W; Department of Gastroenterology, First Affiliated Hospital of Nanjing Medical University, 210029, Nanjing, People's Republic of China.
Xu Q; Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, 100730, People's Republic of China.
Li J; Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, 100730, People's Republic of China.
Li J; Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, 100730, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 01; Vol. 19 (1), pp. 35. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Colonic Polyps*/genetics
Colonic Polyps*/pathology
Intestinal Polyposis*/genetics
Intestinal Polyposis*/pathology
Humans ; Exome Sequencing ; Epithelial-Mesenchymal Transition ; Phosphatidylinositol 3-Kinases ; Interleukin-1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Autorzy:
Al Tuwaijri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
Alyafee Y; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Alsubait A; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Research Core Facilities and Platforms, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Alharbi M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
AlEidi H; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Ballow M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Aldrees M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Alam Q; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Al Abdulrahman A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Alrifai MT; Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Apr; Vol. 11 (4), pp. e2117. Date of Electronic Publication: 2022 Nov 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Congenital Disorders of Glycosylation*/genetics
Humans ; Glycosylation ; Phenotype ; Mutation ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ratiometric electrochemical OR gate assay for NSCLC-derived exosomes.
Autorzy:
Meng F; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Yu W; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Niu M; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Tian X; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Miao Y; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Li X; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Zhou Y; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Ma L; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Zhang X; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Qian K; State Key Laboratory for Oncogenes and Related Genes, School of Biomedical Engineering, Institute of Medical Robotics and Med-X Research Institute, Shanghai Jiao Tong University, Shanghai, 200030, China.
Yu Y; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .
Wang J; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .
Huang L; Department of Clinical Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .; Shanghai Institute of Thoracic Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .
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Źródło:
Journal of nanobiotechnology [J Nanobiotechnology] 2023 Mar 24; Vol. 21 (1), pp. 104. Date of Electronic Publication: 2023 Mar 24.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Carcinoma, Non-Small-Cell Lung*/blood
Carcinoma, Non-Small-Cell Lung*/diagnosis
Electrochemistry*
Biosensing Techniques ; Limit of Detection ; Blood Chemical Analysis/methods ; Blood Chemical Analysis/standards ; Humans ; Cell Line, Tumor
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Assessing reliability of intra-tumor heterogeneity estimates from single sample whole exome sequencing data.
Autorzy:
Abécassis J; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.; MINES ParisTech, PSL Research University, CBIO-Centre for Computational Biology, Paris, France.; Institut Curie, PSL Research University, INSERM, U900, Paris, France.
Hamy AS; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.
Laurent C; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.
Sadacca B; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.; Institut de Mathématiques de Toulouse, UMR5219 Université de Toulouse, CNRS UPS IMT, Toulouse, France.
Bonsang-Kitzis H; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.; Department of Surgery, Institut Curie, Paris, France.
Reyal F; Institut Curie, PSL Research University, Translational Research Department, INSERM, U932 Immunity and Cancer, Residual Tumor & Response to Treatment Laboratory (RT2Lab), Paris, France.; Department of Surgery, Institut Curie, Paris, France.
Vert JP; MINES ParisTech, PSL Research University, CBIO-Centre for Computational Biology, Paris, France.; Google Brain, Paris, France.
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Źródło:
PloS one [PLoS One] 2019 Nov 07; Vol. 14 (11), pp. e0224143. Date of Electronic Publication: 2019 Nov 07 (Print Publication: 2019).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Heterogeneity*
Exome Sequencing*
DNA Copy Number Variations/*genetics
Genome, Human/*genetics
Algorithms ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Computational Biology ; Exome/genetics ; Female ; Humans ; Mutation ; Squamous Cell Carcinoma of Head and Neck/genetics ; Squamous Cell Carcinoma of Head and Neck/pathology ; Urinary Bladder Neoplasms/genetics ; Urinary Bladder Neoplasms/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of somatic alterations in lipoma using whole exome sequencing.
Autorzy:
Kanojia D; Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore. .
Dakle P; Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.
Mayakonda A; Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.; Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Parameswaran R; Division of Surgical Oncology, National University Cancer Institute, Singapore, Singapore.
Puhaindran ME; Department of Hand and Reconstructive Microsurgery, National University Hospital, Singapore, Singapore.
Min VLK; Department of Pathology, National University Hospital, Singapore, Singapore.
Madan V; Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.
Koeffler P; Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.; Division of Hematology/Oncology, Cedars-Sinai Medical Center, University of California, School of Medicine, Los Angeles, California, USA.; National University Cancer Institute, National University Hospital, Singapore, Singapore.
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Źródło:
Scientific reports [Sci Rep] 2019 Oct 07; Vol. 9 (1), pp. 14370. 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:
Exome Sequencing*
Cell Proliferation/*genetics
DNA Copy Number Variations/*genetics
Lipoma/*genetics
Adult ; Aged ; Codon, Nonsense/genetics ; Exome/genetics ; Female ; Frameshift Mutation/genetics ; Humans ; INDEL Mutation/genetics ; Lipoma/pathology ; Male ; Middle Aged ; Mutation, Missense/genetics ; Phosphotransferases/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Autorzy:
Tehrani Fateh S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Mohammad Zadeh N; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Salehpour S; Department of Pediatrics, Clinical Research Development Unit, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Omidi A; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Sadeghi H; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mirfakhraie R; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Moghimi P; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Keyvanfar S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammadi Sarvaleh S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Miryounesi M; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .
Ghasemi MR; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 12; Vol. 17 (1), pp. 20. Date of Electronic Publication: 2024 Jan 12.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
De Lange Syndrome*/diagnosis
Humans ; Exome ; Mutation ; Phenotype ; DNA ; Biopsy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Autorzy:
Chetruengchai W; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand.; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand. .; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. .
Shotelersuk V; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand.; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 02; Vol. 17 (1), pp. 9. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hemoglobinopathies*/genetics
Thalassemia*/genetics
Child ; Pregnancy ; Female ; Humans ; Thailand ; Exome Sequencing ; Exome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.
Autorzy:
Lalami I; Institut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Abo C; Institut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Borghese B; Institut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Chapron C; Institut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Vaiman D; Institut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 07; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Endometriosis/*genetics
Exome/*genetics
Animals ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Genomics/methods ; Genotype ; Humans ; Polymorphism, Single Nucleotide/genetics ; Exome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Autorzy:
Babić Božović I; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Leonardis L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Meznaric M; Institute of Anatomy, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Osredkar D; Department of Paediatric Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
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Źródło:
PloS one [PLoS One] 2021 Jun 09; Vol. 16 (6), pp. e0252953. Date of Electronic Publication: 2021 Jun 09 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Mutation*
Biomarkers/*metabolism
Muscular Diseases/*diagnosis
Tertiary Care Centers/*statistics & numerical data
Exome Sequencing/*methods
Adolescent ; Adult ; Aged ; Biomarkers/analysis ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Genetic Testing/methods ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Muscular Diseases/epidemiology ; Muscular Diseases/genetics ; Phenotype ; Prognosis ; Retrospective Studies ; Slovenia/epidemiology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 61-80 z 23372

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