المؤلفون: Cheng M; Department of Pediatrics, Peking University First Hospital, Beijing, China., Bai L; Research and Development Center, Beijing USCI Medical Laboratory Co., Ltd, Beijing, China., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Liu W; Department of Pediatrics, Peking University First Hospital, Beijing, China., Niu X; Department of Pediatrics, Peking University First Hospital, Beijing, China., Chen Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Tan Q; Department of Pediatrics, Peking University First Hospital, Beijing, China., Yang X; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wu Q; Research and Development Center, Beijing USCI Medical Laboratory Co., Ltd, Beijing, China., Zhao HQ; Research and Development Center, Beijing USCI Medical Laboratory Co., Ltd, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.

المصدر: Clinical genetics [Clin Genet] 2024 Aug; Vol. 106 (2), pp. 161-179. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Spasms, Infantile*/genetics , Phenotype*, Humans ; Female ; Male ; Infant ; Chromosome Duplication/genetics ; Chromosomes, Human, Pair 15/genetics ; Child, Preschool ; Infant, Newborn ; Chromosome Deletion ; Mosaicism ; Chromosome Aberrations ; Intellectual Disability

SCR Disease Name: Duplication 15q11-q13 Syndrome

المؤلفون: Di Cosimo S; Department of Advanced Diagnostics, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Via Venezian 1, 20100, Milan, Italy., Silvestri M; Department of Advanced Diagnostics, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Via Venezian 1, 20100, Milan, Italy. marco.silvestri@istitutotumori.mi.it.; Isinnova S.R.L, Brescia, Italy. marco.silvestri@istitutotumori.mi.it., De Marco C; Department of Advanced Diagnostics, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Via Venezian 1, 20100, Milan, Italy., Calzoni A; Isinnova S.R.L, Brescia, Italy.; Department of Information Engineering, University of Brescia, Brescia, Italy., De Santis MC; Department of Radiation Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milan, Italy.; Breast Unit, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milan, Italy., Carnevale MG; Department of Radiation Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milan, Italy.; Breast Unit, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milan, Italy., Reduzzi C; Division of Hematology-Oncology, Weill Cornell Medicine, New York, NY, USA., Cristofanilli M; Division of Hematology-Oncology, Weill Cornell Medicine, New York, NY, USA., Cappelletti V; Department of Advanced Diagnostics, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Via Venezian 1, 20100, Milan, Italy.

المصدر: Scientific reports [Sci Rep] 2024 Sep 03; Vol. 14 (1), pp. 20479. Date of Electronic Publication: 2024 Sep 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Triple Negative Breast Neoplasms*/genetics , Triple Negative Breast Neoplasms*/pathology , Triple Negative Breast Neoplasms*/blood , Chromosomal Instability* , Neoplastic Cells, Circulating*/metabolism , Neoplastic Cells, Circulating*/pathology , Whole Genome Sequencing*/methods , DNA Copy Number Variations*, Humans ; Female ; Cell Line, Tumor

المؤلفون: Hsu CC; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; National Taiwan University College of Medicine Institute of Molecular Medicine, Taipei, Taiwan., Lee NC; Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chien YH; Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Liu CF; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chang YL; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; Chang Gung University College of Medicine, Taoyuan, Taiwan; School of Medicine, National Tsing Hua University, Hsinchu, Taiwan. Electronic address: j12054@cgmh.org.tw.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Sep; Vol. 63 (5), pp. 771-776.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Gaucher Disease*/genetics , Gaucher Disease*/diagnosis , Gaucher Disease*/complications , DNA Copy Number Variations* , Hydrops Fetalis*/genetics , Hydrops Fetalis*/diagnosis , Ultrasonography, Prenatal* , Cerebellum*/abnormalities , Cerebellum*/diagnostic imaging , Exome Sequencing*, Humans ; Female ; Pregnancy ; Adult ; Heterozygote ; Nervous System Malformations/genetics ; Nervous System Malformations/diagnosis ; Polymorphism, Single Nucleotide ; Glucosylceramidase/genetics ; Developmental Disabilities

SCR Disease Name: Cerebellar Hypoplasia

المؤلفون: Sugai T; Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Shiwa-gun, Japan.; Diagnostic Pathology Center, Southern Tohoku General Hospital, Fukushima, Japan., Osakabe M; Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Shiwa-gun, Japan., Uesugi N; Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Shiwa-gun, Japan.; Diagnostic Pathology Center, Southern Tohoku General Hospital, Fukushima, Japan., Habano W; Department of Pharmacodynamics and Molecular Genetics, School of Pharmacy, Iwate Medical University, Morioka, Japan., Yanagawa N; Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Shiwa-gun, Japan., Suzuki H; Department of Molecular Biology, Sapporo Medical University, School of Medicine, Sapporo, Japan.

المصدر: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Sep; Vol. 63 (9), pp. e23267.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Adenoma*/genetics , Adenoma*/pathology , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/pathology , DNA Copy Number Variations*, Humans ; Female ; Male ; Middle Aged ; Aged ; Polymorphism, Single Nucleotide ; Carcinoma/genetics ; Carcinoma/pathology ; Adult ; Gene Dosage ; Tumor Suppressor Protein p53/genetics

المؤلفون: Zhao X; Prenatal Diagnosis Center, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Shen Y; Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Kong D; Ultrasound Center, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Li W; Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Yao L; Prenatal Diagnosis Center, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Li S; Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China., Chang Y; Prenatal Diagnosis Center, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China. changying4470@sina.com.; Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China. changying4470@sina.com.; Affiliated Maternal Hospital of Nankai University, Tianjin, 300100, China. changying4470@sina.com.

المصدر: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2024 Sep; Vol. 310 (3), pp. 1517-1523. Date of Electronic Publication: 2024 Jun 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8710213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0711 (Electronic) Linking ISSN: 09320067 NLM ISO Abbreviation: Arch Gynecol Obstet Subsets: MEDLINE

مواضيع طبية MeSH: Heart Septal Defects, Ventricular*/genetics , Heart Septal Defects, Ventricular*/diagnostic imaging , Heart Septal Defects, Ventricular*/epidemiology , Chromosome Aberrations*/statistics & numerical data , DNA Copy Number Variations*, Humans ; Female ; Pregnancy ; Adult ; Noninvasive Prenatal Testing ; Amniocentesis ; Ultrasonography, Prenatal

المؤلفون: Huang J; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Jiang Z; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Ruan Z; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Sheng H; Zhejiang Mater Child and Reproductive Health Center, Hangzhou, Zhejiang Province, China., Liu S; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Dong X; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Su X; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Feng L; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Li Y; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Xu H; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Chen J; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Xia H; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Li T; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Li J; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China., Xu L; Zhejiang Mater Child and Reproductive Health Center, Hangzhou, Zhejiang Province, China. Electronic address: xly166@126.com., Lou J; School of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang Province, China; School of Medicine, and The First Affiliated Hospital, Huzhou University, Huzhou, Zhejiang Province, China. Electronic address: jianlinlou@163.com.

المصدر: Ecotoxicology and environmental safety [Ecotoxicol Environ Saf] 2024 Sep 01; Vol. 282, pp. 116700. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7805381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2414 (Electronic) Linking ISSN: 01476513 NLM ISO Abbreviation: Ecotoxicol Environ Saf Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/drug effects , Semen Analysis*/veterinary , Chromium*/toxicity, Male ; Animals ; Humans ; Mice ; Adult ; Cross-Sectional Studies ; Mice, Inbred C57BL ; DNA, Ribosomal/genetics ; Semen/drug effects ; Sperm Count ; Spermatozoa/drug effects

المؤلفون: Liang X; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.; Department of Medical Oncology, The Affiliated Jiangyin Hospital of Nantong University, Jiangyin, China., Xu J; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Jiang Y; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Yan Y; Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, China., Wu H; Department of Central Laboratory, Wuxi Key Laboratory of Biomaterials for Clinical Application, Key Laboratory for Multidisciplinary Intersection of Radiotherapy and Immunology for Gastrointestinal Tumor, Jiangyin Clinical College of Xuzhou Medical University, Jiangyin, China., Dai J; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Cui Y; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Zhang C; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Chen W; Department of Radiotherapy, The Affiliated Cancer Hospital of Nanjing Medical University, Jiangsu Cancer Hospital, Jiangsu Institue of Cancer Research, Nanjing, Jiangsu, China., Zhang Z; Department of Pathology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Guo R; Department of Medical Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

المصدر: Molecular carcinogenesis [Mol Carcinog] 2024 Sep; Vol. 63 (9), pp. 1643-1653. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8811105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2744 (Electronic) Linking ISSN: 08991987 NLM ISO Abbreviation: Mol Carcinog Subsets: MEDLINE

مواضيع طبية MeSH: Lung Neoplasms*/genetics , Lung Neoplasms*/pathology , Lung Neoplasms*/mortality , ErbB Receptors*/genetics , Mutation* , DNA Copy Number Variations*, Humans ; Male ; Female ; Prognosis ; Middle Aged ; Retrospective Studies ; Aged ; Biomarkers, Tumor/genetics ; Genomics/methods ; Protein Kinase Inhibitors/therapeutic use ; Nomograms

المؤلفون: Tanaka S; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.; Diabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan., Akagawa H; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.; Department of Neurosurgery, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan., Azuma K; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan., Higuchi S; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan., Ujiie A; Department of Diabetes, Endocrinology and Hematology, Dokkyo Medical University Saitama Medical Center, Saitama, Japan., Hashimoto K; Department of Diabetes, Endocrinology and Hematology, Dokkyo Medical University Saitama Medical Center, Saitama, Japan., Iwasaki N; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.; Diabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.; Division of Diabetes, Endocrinology and Metabolism, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan.

المصدر: Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 293-304. Date of Electronic Publication: 2024 May 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2*/genetics , Diabetes Mellitus, Type 2*/epidemiology , DNA Copy Number Variations* , Exome Sequencing*, Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; East Asian People/genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Hepatocyte Nuclear Factor 1-beta/genetics ; Hepatocyte Nuclear Factor 4/genetics ; Japan/epidemiology ; Multiplex Polymerase Chain Reaction ; Mutation ; Prevalence

SCR Disease Name: Mason-Type Diabetes

المؤلفون: Deng TX; Guangxi Provincial Key Laboratory of Buffalo Genetics, Breeding and Reproduction Technology, Buffalo Research Institute, Chinese Academy of Agricultural Sciences, Nanning 530001, China. Electronic address: dtx282000@163.com., Ma XY; Guangxi Provincial Key Laboratory of Buffalo Genetics, Breeding and Reproduction Technology, Buffalo Research Institute, Chinese Academy of Agricultural Sciences, Nanning 530001, China., Duan A; Guangxi Provincial Key Laboratory of Buffalo Genetics, Breeding and Reproduction Technology, Buffalo Research Institute, Chinese Academy of Agricultural Sciences, Nanning 530001, China., Lu XR; Guangxi Provincial Key Laboratory of Buffalo Genetics, Breeding and Reproduction Technology, Buffalo Research Institute, Chinese Academy of Agricultural Sciences, Nanning 530001, China., Abdel-Shafy H; Department of Animal Production, Faculty of Agriculture, Cairo University, 12613, Giza, Egypt.

المصدر: Journal of dairy science [J Dairy Sci] 2024 Sep; Vol. 107 (9), pp. 7022-7037. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Dairy Science Association Country of Publication: United States NLM ID: 2985126R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-3198 (Electronic) Linking ISSN: 00220302 NLM ISO Abbreviation: J Dairy Sci Subsets: MEDLINE

مواضيع طبية MeSH: Buffaloes*/genetics , Milk*/metabolism , DNA Copy Number Variations*, Animals ; Female ; Genome ; Breeding ; Lactation/genetics

المؤلفون: Deng L; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Zhou J; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Sun Y; State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Department of Pathology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Hu Y; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Department of Surgery, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Qiao J; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Liu Z; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Gu L; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Lin D; State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Department of Pathology, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Zhang L; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Department of Surgery, Peking University Cancer Hospital and Institute, Beijing, 100142, China., Deng D; Key Laboratory of Carcinogenesis and Translational Research, (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing, 100142, China. dengdajun@bjmu.edu.cn.

المصدر: Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association [Gastric Cancer] 2024 Sep; Vol. 27 (5), pp. 986-997. Date of Electronic Publication: 2024 Jun 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Tokyo Country of Publication: Japan NLM ID: 100886238 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1436-3305 (Electronic) Linking ISSN: 14363291 NLM ISO Abbreviation: Gastric Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Stomach Neoplasms*/genetics , Stomach Neoplasms*/pathology , DNA Copy Number Variations* , Cyclin-Dependent Kinase Inhibitor p16*/genetics, Humans ; Male ; Female ; Middle Aged ; Aged ; Gene Amplification ; Real-Time Polymerase Chain Reaction ; Neoplasm Metastasis/genetics ; Prognosis ; Adult ; Aged, 80 and over