Temat: "Mutational analysis" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Autorzy:: Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Martín-Merida I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Fernandez-San Jose P; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Genetics, Ramón y Cajal University Hospital, 28034 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Irigoyen C; Ophthalmology Service, Donostia University Hospital, 20014 Donostia-San Sebastián, Spain.
Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Lopez-Grondona F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Mahillo I; Department of Statistics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Martin-Gutierrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Perea-Romero I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Del Pozo-Valero M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Riveiro-Alvarez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodriguez-Peña L; Sección de Genética Medica, Servicio de Pediatría, HCU Virgen de la Arrixaca, 30120 Murcia, Spain.
Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Zurita O; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.
Typ publikacji:: Journal Article
MeSH Terms:: Retinal Dystrophies*/genetics
Retinitis Pigmentosa*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Mutation, Missense ; Phenotype

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Skocz do pozycji: 2.

Tytuł:: Assessment of RAS-RAF-MAPK Pathway Mutation Status in Healthy Skin, Benign Nevi, and Cutaneous Melanomas: Pilot Study Using Droplet Digital PCR.
Autorzy:: Dobre EG; Doctoral School, Faculty of Biology, University of Bucharest, 050095 Bucharest, Romania.; 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.
Nichita L; 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.; Colentina Clinical Hospital, 020125 Bucharest, Romania.; Department of Pathology, Faculty of Dental Medicine, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Popp C; 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.; Colentina Clinical Hospital, 020125 Bucharest, Romania.; Department of Pathology, Faculty of Dental Medicine, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Zurac S; 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.; Colentina Clinical Hospital, 020125 Bucharest, Romania.; Department of Pathology, Faculty of Dental Medicine, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neagu M; Doctoral School, Faculty of Biology, University of Bucharest, 050095 Bucharest, Romania.; 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.; Colentina Clinical Hospital, 020125 Bucharest, Romania.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 15; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 15.
Typ publikacji:: Journal Article
MeSH Terms:: Nevus, Epithelioid and Spindle Cell*/genetics
Skin Neoplasms*/genetics
Melanoma, Cutaneous Malignant*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Pilot Projects ; Polymerase Chain Reaction ; Proto-Oncogene Proteins B-raf/genetics

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Skocz do pozycji: 3.

Tytuł:: The origins and functional effects of postzygotic mutations throughout the human life span.
Autorzy:: Rockweiler NB; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Ramu A; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA.
Wong WH; Department of Pediatrics, Division of Hematology and Oncology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Noordam MJ; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Drubin CW; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Huang N; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Miller B; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA.
Todres EZ; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Vigh-Conrad KA; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA.
Zito A; Department of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Small KS; Department of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Ardlie KG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cohen BA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Conrad DF; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA.; Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University, Portland, OR 97239, USA.; Pokaż więcej
Źródło:: Science (New York, N.Y.) [Science] 2023 Apr 14; Vol. 380 (6641), pp. eabn7113. Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:: Journal Article
MeSH Terms:: Longevity*/genetics
Zygote*
DNA Mutational Analysis*
Female ; Humans ; Mutation ; Phylogeny ; RNA-Seq

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Skocz do pozycji: 4.

Tytuł:: Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Autorzy:: Zhang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Luo J; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhou X; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yi S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Tan S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qin Z; Maternal and Child Health Hospital of Guangxi, Nanning, China. .; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Jan 31; Vol. 17 (1), pp. 44. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:: Journal Article
MeSH Terms:: Siblings*
Guanine Nucleotide Exchange Factors*/genetics
Amyotrophic Lateral Sclerosis*
Spastic Paraplegia, Hereditary*
Female ; Pregnancy ; Humans ; Mutation ; DNA Mutational Analysis ; Molecular Biology ; China ; Pedigree
SCR Disease Name:: Hereditary spastic paralysis, infantile onset ascending; Amyotrophic Lateral Sclerosis 2, Juvenile

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Skocz do pozycji: 5.

Tytuł:: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Autorzy:: Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.
Zhang J; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Gao J; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Ding G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Jiang H; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Liu Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China. .; School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, 441053, China. .
Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China. .; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, 430071, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:: Journal Article
MeSH Terms:: Frameshift Mutation*
Nystagmus, Congenital*/genetics
Humans ; Base Sequence ; Membrane Proteins/genetics ; Cytoskeletal Proteins/genetics ; Pedigree ; DNA Mutational Analysis ; Mutation

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Skocz do pozycji: 6.

Tytuł:: Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Autorzy:: Jiang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Xiao X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Sun W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Wang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Li S; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Jia X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Wang P; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Hejtmancik JF; Ophthalmic Molecular Genetics Section, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, MD, 20852, USA.
Zhang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China. .; Pokaż więcej
Źródło:: Journal of translational medicine [J Transl Med] 2024 Jan 19; Vol. 22 (1), pp. 75. Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:: Journal Article
MeSH Terms:: Amblyopia*/complications
Myopia*/genetics
Arthritis*
Connective Tissue Diseases*
Hearing Loss, Sensorineural*
Retinal Detachment*
Humans ; Child ; Infant ; Child, Preschool ; Mutation ; Pedigree ; Fluoresceins ; Risk Factors ; DNA Mutational Analysis ; Frizzled Receptors/genetics ; Cytoskeletal Proteins/genetics ; Membrane Proteins/genetics ; Tetraspanins/genetics
SCR Disease Name:: Stickler syndrome, type 1

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Skocz do pozycji: 7.

Tytuł:: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Autorzy:: Goyal S; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Singh R; Dr. Daljit, Singh Eye Hospital, Amritsar, 143001, Punjab, India.
Singh JR; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Vanita V; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India. vanita_.; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2024 Jan 04; Vol. 25 (1), pp. 31. Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:: Journal Article
MeSH Terms:: Cataract*/genetics
Connexins*/genetics
Eye Proteins*/genetics
Membrane Proteins*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Pedigree ; Phenotype
SCR Disease Name:: Cataract, Coppock-Like

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Skocz do pozycji: 8.

Tytuł:: A novel method for detecting nine hotspot mutations of deafness genes in one tube.
Autorzy:: Yu Y; Comprehensive Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou, 213003, People's Republic of China.
Zhang J; Comprehensive Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou, 213003, People's Republic of China.
Zhan Y; Comprehensive Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou, 213003, People's Republic of China.
Luo G; Comprehensive Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou, 213003, People's Republic of China. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Jan 03; Vol. 14 (1), pp. 454. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:: Journal Article
MeSH Terms:: Connexins*/genetics
Deafness*/diagnosis
Deafness*/genetics
Humans ; Connexin 26/genetics ; Reproducibility of Results ; RNA, Ribosomal/genetics ; DNA Mutational Analysis ; Mutation ; China

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Skocz do pozycji: 9.

Tytuł:: Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.
Autorzy:: Ma Z; Reproductive Medicine Center, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Huang W; Reproductive Medicine Center, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Xu J; Reproductive Medicine Center, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Qiu J; Department of Neonatology, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Liu Y; Reproductive Medicine Center, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Ye M; Department of Biobank, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China.
Fan S; Reproductive Medicine Center, Yuebei People's Hospital, Shantou University Medical College, Shaoguan, 512026, China. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Jan 03; Vol. 14 (1), pp. 362. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:: Journal Article
MeSH Terms:: Connexins*/genetics
Deafness*/epidemiology
Deafness*/genetics
Deafness*/diagnosis
Infant, Newborn ; Humans ; Connexin 26/genetics ; Mutation ; DNA Mutational Analysis ; DNA, Mitochondrial/genetics ; China/epidemiology

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Skocz do pozycji: 10.

Tytuł:: BRAF genetic testing should be recommended for Bethesda III or V thyroid nodules based on fine-needle aspiration.
Autorzy:: Lu Y; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.
Guo X; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China.; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China.; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China.
Yang M; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.
Wang K; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.
Cao G; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.
Liu Y; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.
Hou X; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China.; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China.; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China.; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China.
Chen L; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China. .; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China. .; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China. .; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China. .
Liang K; Department of Endocrine and Metabolic Diseases, Qilu Hospital of Shandong University, Jinan, China. .; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China. .; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China. .; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Oct 10; Vol. 13 (1), pp. 17129. Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Thyroid Nodule*/diagnosis
Thyroid Nodule*/genetics
Thyroid Nodule*/pathology
Thyroid Neoplasms*/pathology
Humans ; Biopsy, Fine-Needle ; Proto-Oncogene Proteins B-raf/genetics ; Retrospective Studies ; Genetic Testing ; Mutation ; DNA Mutational Analysis

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Skocz do pozycji: 11.

Tytuł:: Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Autorzy:: Al Riyami MS; Pediatric Nephrology Unit, Department of Child Healthy, Royal Hospital, Muscat, Oman.
Al Alawi I; Translational and Clinical Research Institute, Faculty of Medical Science, Newcastle University, Newcastle upon Tyne, UK.; National Genetic Center, Ministry of Health, Muscat, Oman.
Al Gaithi B; Pediatric Nephrology Unit, Department of Child Healthy, Royal Hospital, Muscat, Oman.
Al Maskari A; Pediatric Nephrology Unit, Department of Child Healthy, Royal Hospital, Muscat, Oman.
Al Kalbani N; Pediatric Nephrology Unit, Department of Child Healthy, Royal Hospital, Muscat, Oman.
Al Hashmi N; Pediatric Metabolic and Genetic Disorder Unit, Royal Hospital, Muscat, Oman.
Al Balushi A; Pediatric Metabolic and Genetic Disorder Unit, Royal Hospital, Muscat, Oman.
Al Shahi M; Pediatric Clinical Genetic Unit, Royal Hospital, Department of Child Health, Royal Hospital, Muscat, Oman.
Al Saidi S; Pediatric Nephrology Unit, Department of Child Healthy, Royal Hospital, Muscat, Oman.
Al Bimani M; National Genetic Center, Ministry of Health, Muscat, Oman.
Al Hatali F; National Genetic Center, Ministry of Health, Muscat, Oman.
Mabillard H; Translational and Clinical Research Institute, Faculty of Medical Science, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Newcastle Biomedical Research Center, NIHR, Newcastle upon Tyne, UK.
Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Science, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Newcastle Biomedical Research Center, NIHR, Newcastle upon Tyne, UK.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Sep; Vol. 11 (9), pp. e2201. Date of Electronic Publication: 2023 May 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Nephrotic Syndrome*/drug therapy
Nephrotic Syndrome*/genetics
Nephrotic Syndrome*/diagnosis
Infant ; Child ; Humans ; Adolescent ; Retrospective Studies ; Genetic Predisposition to Disease ; Membrane Proteins/genetics ; DNA Mutational Analysis
SCR Disease Name:: Nephrosis, congenital

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Skocz do pozycji: 12.

Tytuł:: Rapid assessment of 3-dimensional intra-tumor heterogeneity through cycling temperature capillary electrophoresis.
Autorzy:: Połeć A; Department of Cancer Genetics, Institute for Cancer Research, Radium Hospital, Oslo University Hospital, Oslo, Norway.
Ekstrøm PO; Department of Tumor Biology, Institute for Cancer Research, Radium Hospital, Oslo University Hospital, Oslo, Norway.
Fougner C; Department of Cancer Genetics, Institute for Cancer Research, Radium Hospital, Oslo University Hospital, Oslo, Norway.
Sørlie T; Department of Cancer Genetics, Institute for Cancer Research, Radium Hospital, Oslo University Hospital, Oslo, Norway.; Institute for Clinical Medicine, University of Oslo, Oslo, Norway.
Norum JH; Department of Cancer Genetics, Institute for Cancer Research, Radium Hospital, Oslo University Hospital, Oslo, Norway. .; Pokaż więcej
Źródło:: BMC research notes [BMC Res Notes] 2023 Aug 11; Vol. 16 (1), pp. 167. Date of Electronic Publication: 2023 Aug 11.
Typ publikacji:: Journal Article
MeSH Terms:: Colonic Neoplasms*
Humans ; Animals ; Mice ; Temperature ; DNA Mutational Analysis/methods ; Mutation ; Electrophoresis, Capillary/methods ; DNA

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Skocz do pozycji: 13.

Tytuł:: A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.
Autorzy:: Yadav M; Department of Genetics, Maharshi Dayanand University, Rohtak, Harayana, India.
Yadav A; Department of Genetics, Maharshi Dayanand University, Rohtak, Harayana, India.
Bhardwaj A; Department of Genetics, Maharshi Dayanand University, Rohtak, Harayana, India.
Dhull CS; Regional Institute of Ophthalmology, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, India.
Sachdeva S; Regional Institute of Ophthalmology, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, India.
Yadav R; Department of Genetics, Maharshi Dayanand University, Rohtak, Harayana, India.
Tanwar M; Department of Genetics, Maharshi Dayanand University, Rohtak, Harayana, India.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Aug; Vol. 71 (8), pp. 3016-3023.
Typ publikacji:: Journal Article
MeSH Terms:: Glaucoma, Open-Angle*
Glaucoma*
Humans ; Mutation ; Genetic Testing ; Pedigree ; Eye Proteins/genetics ; Eye Proteins/metabolism ; DNA Mutational Analysis

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Skocz do pozycji: 14.

Tytuł:: Molecular typing and mutational characterization of rectal neuroendocrine neoplasms.
Autorzy:: Duan X; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Zhao M; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Yin X; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Mi L; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Shi J; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Li N; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Han X; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Han G; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Wang J; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Hou J; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.
Yin F; Department of Gastroenterology, The Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang, China.; Pokaż więcej
Źródło:: Cancer medicine [Cancer Med] 2023 Aug; Vol. 12 (15), pp. 16207-16220. Date of Electronic Publication: 2023 Jun 30.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Neuroendocrine Tumors*/classification
Neuroendocrine Tumors*/genetics
Neuroendocrine Tumors*/pathology
Rectal Neoplasms*/classification
Rectal Neoplasms*/genetics
Rectal Neoplasms*/pathology
Paraffin Embedding ; Mutation ; Molecular Typing ; DNA Mutational Analysis ; Neoplasm Staging ; Humans ; Male ; Female ; Adult ; Middle Aged ; Aged ; Aged, 80 and over

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Skocz do pozycji: 15.

Tytuł:: Dried blood spot sampling for hepatitis B virus quantification, sequencing and mutation detection.
Autorzy:: Bezerra CS; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil.; Departamento de Educação, Instituto Federal de Educação, Ciência E Tecnologia Do Ceará, Fortaleza, Ceará, Brazil.
Portilho MM; Instituto de Pesquisas Gonçalo Moniz, FIOCRUZ, Salvador, Bahia, Brazil.
Barbosa JR; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil.
de Azevedo CP; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil.
Mendonça ACDF; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil.
da Cruz JNM; Laboratório Central Do Estado Do Ceará, Fortaleza, Ceará, Brazil.
Frota CC; Departamento de Patologia E Medicina Legal, Faculdade de Medicina, Universidade Federal Do Ceará, Fortaleza, Ceará, Brazil.
do Lago BV; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil. .
Villar LM; Laboratorio de Hepatites Virais, Instituto Oswaldo Cruz, Helio and Peggy Pereira Pavillion - Ground Floor - Room B09, Fundação Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 - Manguinhos, Rio de Janeiro, Rio de Janeiro, 210360-040, Brazil. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Jan 31; Vol. 12 (1), pp. 1651. Date of Electronic Publication: 2022 Jan 31.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DNA Mutational Analysis*
Dried Blood Spot Testing*
Mutation*
DNA, Viral/*genetics
Hepatitis B/*diagnosis
Hepatitis B virus/*genetics
Hepatitis B virus/*isolation & purification
Adult ; Case-Control Studies ; Coinfection ; DNA, Viral/blood ; Drug Resistance, Viral/genetics ; Female ; Hepatitis B/blood ; Hepatitis B/virology ; Humans ; Limit of Detection ; Male ; Middle Aged ; Phylogeny ; Predictive Value of Tests ; Reproducibility of Results ; Viral Load

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Skocz do pozycji: 16.

Tytuł:: Accuracy of mutational signature software on correlated signatures.
Autorzy:: Wu Y; Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.; Centre for Computational Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.
Chua EHZ; Department of Biological Sciences, National University of Singapore, Singapore, 117558, Singapore.
Ng AWT; Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.; Centre for Computational Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.
Boot A; Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.; Centre for Computational Biology, Duke-NUS Medical School, Singapore, 169857, Singapore.
Rozen SG; Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, 169857, Singapore. .; Centre for Computational Biology, Duke-NUS Medical School, Singapore, 169857, Singapore. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Jan 10; Vol. 12 (1), pp. 390. Date of Electronic Publication: 2022 Jan 10.
Typ publikacji:: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Algorithms*
DNA Mutational Analysis*
Mutation*
Software*
Biomarkers, Tumor/*genetics
Neoplasms/*genetics
High-Throughput Nucleotide Sequencing ; Humans ; Pattern Recognition, Automated ; Reproducibility of Results

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Skocz do pozycji: 17.

Tytuł:: Relevance of gene mutations and methylation to the growth of pancreatic intraductal papillary mucinous neoplasms based on pyrosequencing.
Autorzy:: Asano G; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Miyabe K; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan. .; Department of Gastroenterology, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, 466-8650, Japan. .
Kato H; Department of Experimental Pathology and Tumor Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan.
Yoshida M; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Sawada T; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Okamoto Y; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Sahashi H; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Atsuta N; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Kachi K; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Kato A; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Jinno N; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Natsume M; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Hori Y; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Naitoh I; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Hayashi K; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
Matsuo Y; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan.
Takahashi S; Department of Experimental Pathology and Tumor Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan.
Suzuki H; Department of Molecular Biology, Sapporo Medical University School of Medicine, Sapporo, 060-8556, Japan.
Kataoka H; Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1, Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Jan 10; Vol. 12 (1), pp. 419. Date of Electronic Publication: 2022 Jan 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DNA Methylation*
DNA Mutational Analysis*
High-Throughput Nucleotide Sequencing*
Mutation*
Biomarkers, Tumor/*genetics
Pancreatic Intraductal Neoplasms/*genetics
Pancreatic Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Chromogranins/genetics ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Disease Progression ; Female ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Genetic Predisposition to Disease ; Humans ; Long Interspersed Nucleotide Elements ; Male ; Middle Aged ; Pancreatic Intraductal Neoplasms/pathology ; Pancreatic Neoplasms/pathology ; Phenotype ; Tumor Suppressor Proteins/genetics

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Skocz do pozycji: 18.

Tytuł:: In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Autorzy:: Fellner A; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel. .; Department of Neurology, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel. .
Goldberg Y; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, 69978, Tel-Aviv, Israel.
Lev D; Sackler Faculty of Medicine, Tel-Aviv University, 69978, Tel-Aviv, Israel.; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, 58220, Holon, Israel.; Rina Mor Institute of Medical Genetics, Wolfson Medical Center, 58220, Holon, Israel.
Basel-Salmon L; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, 69978, Tel-Aviv, Israel.; Felsenstein Medical Research Center, 49100, Petah Tikva, Israel.
Shor O; Department of Neurology, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, 69978, Tel-Aviv, Israel.; Felsenstein Medical Research Center, 49100, Petah Tikva, Israel.
Benninger F; Department of Neurology, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, 69978, Tel-Aviv, Israel.; Felsenstein Medical Research Center, 49100, Petah Tikva, Israel.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Jan 07; Vol. 12 (1), pp. 58. Date of Electronic Publication: 2022 Jan 07.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Mutational Analysis*
Models, Molecular*
Mutation*
Hereditary Central Nervous System Demyelinating Diseases/*genetics
Leukoencephalopathies/*genetics
Tubulin/*genetics
Databases, Genetic ; Genetic Association Studies ; Genetic Predisposition to Disease ; Hereditary Central Nervous System Demyelinating Diseases/diagnosis ; Hereditary Central Nervous System Demyelinating Diseases/metabolism ; Humans ; Leukoencephalopathies/diagnosis ; Leukoencephalopathies/metabolism ; Phenotype ; Predictive Value of Tests ; Protein Conformation ; Structure-Activity Relationship ; Tubulin/chemistry ; Tubulin/metabolism

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Skocz do pozycji: 19.

Tytuł:: BRAF mutation test on fine-needle aspiration specimens of thyroid nodules: Clinical correlations for 4600 patients.
Autorzy:: Chen H; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Song A; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Wang Y; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
He Y; Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, Rochester, New York, USA.
Tong J; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Di J; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Li C; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Zhou Z; Department of Endocrinology, The China-Japan Friendship Hospital, Beijing, China.
Cai X; Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, Rochester, New York, USA.
Zhong D; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.
Da J; Department of Pathology, The China-Japan Friendship Hospital, Beijing, China.; Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital & Shenzhen Hosptial, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.; Pokaż więcej
Źródło:: Cancer medicine [Cancer Med] 2022 Jan; Vol. 11 (1), pp. 40-49. Date of Electronic Publication: 2021 Dec 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Biopsy, Fine-Needle*
DNA Mutational Analysis*
Proto-Oncogene Proteins B-raf/*genetics
Thyroid Nodule/*genetics
Thyroid Nodule/*pathology
Female ; Humans ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Staging ; Sensitivity and Specificity ; Thyroid Nodule/diagnosis ; Thyroid Nodule/surgery ; Thyroidectomy

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Skocz do pozycji: 20.

Tytuł:: Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.
Autorzy:: Bastos-Oreiro M; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain. .; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain. .
Suárez-González J; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Andrés-Zayas C; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Carrión NC; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Moreno S; Deparment of Pathology, Gregorio Marañón General University Hospital, Madrid, Spain.
Carbonell D; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Chicano M; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Muñiz P; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Sanz L; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Diaz-Crespo FJ; Deparment of Pathology, Gregorio Marañón General University Hospital, Madrid, Spain.
Menarguez J; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Deparment of Pathology, Gregorio Marañón General University Hospital, Madrid, Spain.
Diez-Martín JL; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Department of Medicine, School of Medicine, Complutense University of Madrid, Madrid, Spain.
Buño I; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Department of Cell Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.
Martínez-Laperche C; Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2021 Nov 24; Vol. 11 (1), pp. 22815. Date of Electronic Publication: 2021 Nov 24.
Typ publikacji:: Comparative Study; Journal Article; Validation Study
MeSH Terms:: DNA Mutational Analysis*
High-Throughput Nucleotide Sequencing*
Mutation*
Biomarkers, Tumor/*genetics
Lymphoma, Follicular/*genetics
Lymphoma, Large B-Cell, Diffuse/*genetics
Humans ; Liquid Biopsy ; Lymphoma, Follicular/pathology ; Lymphoma, Large B-Cell, Diffuse/pathology ; Predictive Value of Tests ; Reproducibility of Results

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