المؤلفون: Biswal SR; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India., Kumar A; Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India., Muthuswamy S; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India. msrinivasan@nitrkl.ac.in., Kumar S; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India. kumarsantosh@nitrkl.ac.in.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jul 13; Vol. 51 (1), pp. 804. Date of Electronic Publication: 2024 Jul 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Schizophrenia*/genetics , Chromosome Deletion* , DNA Copy Number Variations*/genetics, Humans ; Phenotype ; Chromosomes, Human, Pair 15/genetics ; Genetic Predisposition to Disease ; Intellectual Disability/genetics ; Chromosome Disorders/genetics ; Developmental Disabilities ; Chromosomes, Human, Pair 3 ; Seizures

SCR Disease Name: Chromosome 15q13.3 Microdeletion Syndrome; Chromosome 3q29 Deletion Syndrome

المؤلفون: Zeng Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Ding H; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang X; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Huang Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liu L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Du L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Lu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zeng Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Mai M; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zhu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yu L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., He W; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Guo F; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Peng H; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yao C; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Qi Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liu Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Li F; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Hu R; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang W; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zhang Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China. zhangyan1981_2003@aliyun.com.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China. zhangyan1981_2003@aliyun.com.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China. zhangyan1981_2003@aliyun.com., Yin A; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China. yinaiwa@vip.126.com.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China. yinaiwa@vip.126.com.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China. yinaiwa@vip.126.com.

المصدر: Journal of translational medicine [J Transl Med] 2024 Jul 09; Vol. 22 (1), pp. 644. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Exome Sequencing* , Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics, Humans ; Reproducibility of Results ; Female ; Predictive Value of Tests ; Male ; Retrospective Studies

المؤلفون: Duan H; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Wang W; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Zhang Y; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Chen X; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China., Jiang Z; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Li J; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China. Electronic address: jie1967@126.com.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 536-539.

نوع المنشور: Journal Article; Comparative Study

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: DNA Copy Number Variations* , Noninvasive Prenatal Testing*/methods , Lymphocytes*, Humans ; Female ; Pregnancy ; Adult ; DNA/blood ; DNA/genetics ; DNA/analysis

المؤلفون: Zhang L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China., Fang K; CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, 100101, China.; Department of Psychology, University of Chinese Academy of Sciences, Beijing, 100049, China., Ren H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China., Fan S; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China., Wang J; CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, 100101, China. wangjing@psych.ac.cn.; Department of Psychology, University of Chinese Academy of Sciences, Beijing, 100049, China. wangjing@psych.ac.cn., Guan H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China. pumchghz@126.com.

المصدر: BMC neurology [BMC Neurol] 2024 Jun 28; Vol. 24 (1), pp. 223. Date of Electronic Publication: 2024 Jun 28.

نوع المنشور: Journal Article; Comparative Study

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Meningeal Neoplasms*/cerebrospinal fluid , Meningeal Neoplasms*/genetics , Meningeal Neoplasms*/diagnosis , High-Throughput Nucleotide Sequencing*/methods , DNA Copy Number Variations*/genetics , Metagenomics*/methods, Humans ; Male ; Female ; Middle Aged ; Adult ; Aged ; Young Adult ; Sensitivity and Specificity ; Adolescent ; Cytology

المؤلفون: Qin Y; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Touch K; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Sha M; Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Sun Y; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Zhang S; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Wu J; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Wu Y; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Feng L; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China., Chen S; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China. tj_csh@163.com., Xiao J; Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, 430030, Hubei, China. tjxiaojuan2005@163.com.

المصدر: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 May; Vol. 41 (5), pp. 1285-1296. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abortion, Spontaneous*/genetics , Abortion, Spontaneous*/pathology , DNA Copy Number Variations*/genetics , Chromosome Aberrations*, Humans ; Female ; Pregnancy ; Adult ; Aneuploidy

المؤلفون: Jutla A; Department of Psychiatry, Columbia University, New York, New York, USA.; New York State Psychiatric Institute, New York, New York, USA., Harvey L; City University of New York School of Medicine, New York, New York, USA., Veenstra-VanderWeele J; Department of Psychiatry, Columbia University, New York, New York, USA.; New York State Psychiatric Institute, New York, New York, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, New York, USA.; Simons Foundation, New York, New York, USA.

المصدر: Autism research : official journal of the International Society for Autism Research [Autism Res] 2024 May; Vol. 17 (5), pp. 906-916. Date of Electronic Publication: 2024 Apr 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101461858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-3806 (Electronic) Linking ISSN: 19393806 NLM ISO Abbreviation: Autism Res Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 16*/genetics , DNA Copy Number Variations*/genetics , Chromosome Deletion* , Intellectual Disability*/genetics, Humans ; Female ; Male ; Adolescent ; Adult ; Child ; Young Adult ; Chromosome Disorders/genetics ; Chromosome Disorders/physiopathology ; Chromosome Disorders/complications ; Chromosome Duplication/genetics ; Autistic Disorder/genetics ; Phenotype ; Middle Aged ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Child, Preschool

SCR Disease Name: 16p11.2 Deletion Syndrome

المؤلفون: Duan HK; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Bai Y; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Xia YJ; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Wang L; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Kong XD; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

المصدر: Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2024 Jul 23; Vol. 104 (28), pp. 2642-2647.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7511141 Publication Model: Print Cited Medium: Print ISSN: 0376-2491 (Print) Linking ISSN: 03762491 NLM ISO Abbreviation: Zhonghua Yi Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , DNA Copy Number Variations* , Kidney Diseases, Cystic*/genetics , Kidney Diseases, Cystic*/diagnosis, Humans ; Male ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Adolescent ; Child ; Child, Preschool ; Infant ; Young Adult ; TRPP Cation Channels/genetics ; Mutation

المؤلفون: Mihailovich M; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy., Germain PL; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Computational Neurogenomics, D-HEST Institute for Neuroscience, Federal Institute of Technology (ETH) Zürich, Zürich, Switzerland., Shyti R; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy., Pozzi D; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Noberini R; European Institute of Oncology (IEO) IRCCS, Milan, Italy., Liu Y; Department of Biology, Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland., Aprile D; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Tenderini E; European Institute of Oncology (IEO) IRCCS, Milan, Italy., Troglio F; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Trattaro S; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Fabris S; Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ciptasari U; Department of Cognitive Neurosciences, RadboudUmc, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands., Rigoli MT; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Caporale N; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., D'Agostino G; European Institute of Oncology (IEO) IRCCS, Milan, Italy., Mirabella F; Human Technopole, Milan, Italy., Vitriolo A; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Capocefalo D; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Skaros A; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy., Franchini AV; European Institute of Oncology (IEO) IRCCS, Milan, Italy., Ricciardi S; Department of Biosciences, University of Milan, Milan, Italy.; National Institute of Molecular Genetics, Fondazione Romeo ed Enrica Invernizzi, Milan, Italy., Biunno I; Integrated Systems Engineering Srl, c/o OpenZone, Bresso, Milan, Italy., Neri A; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.; Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Nadif Kasri N; Department of Cognitive Neurosciences, RadboudUmc, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands., Bonaldi T; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Aebersold R; Department of Biology, Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland., Matteoli M; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Testa G; European Institute of Oncology (IEO) IRCCS, Milan, Italy.; Human Technopole, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jul 15; Vol. 134 (14). Date of Electronic Publication: 2024 Jul 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Neurons*/metabolism , Neurons*/pathology , Chromosomes, Human, Pair 7*/genetics, Humans ; Ribosomes/metabolism ; Ribosomes/genetics ; Neurogenesis/genetics ; Williams Syndrome/genetics ; Williams Syndrome/metabolism ; Williams Syndrome/pathology ; Williams Syndrome/physiopathology ; Ribosomal Protein S6/metabolism ; Ribosomal Protein S6/genetics ; TOR Serine-Threonine Kinases/metabolism ; TOR Serine-Threonine Kinases/genetics ; Male ; Cell Differentiation ; Female

المؤلفون: Iser F; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Hinz F; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Hoffmann DC; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Faculty of Biosciences, Heidelberg University, Heidelberg, Germany., Grassl N; Clinical Cooperation Unit Neuroimmunology and Brain Tumor Immunology, DKTK, DKFZ, Heidelberg, Germany.; Department of Neurology, Medical Faculty Mannheim, MCTN, Heidelberg University, Mannheim, Germany., Güngoör C; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Meyer J; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Dörner L; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Hofmann L; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Kelbch V; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Göbel K; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Mahmutoglu MA; Department of Neuro-radiology, Heidelberg University Hospital, Heidelberg, Germany., Vollmuth P; Department of Neuro-radiology, Heidelberg University Hospital, Heidelberg, Germany., Patel A; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Nguyen D; Junior Research Group Bioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), Heidelberg, Germany., Kaulen LD; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Mildenberger I; Clinical Cooperation Unit Neuroimmunology and Brain Tumor Immunology, DKTK, DKFZ, Heidelberg, Germany.; Department of Neurology, Medical Faculty Mannheim, MCTN, Heidelberg University, Mannheim, Germany., Sahm K; Clinical Cooperation Unit Neuroimmunology and Brain Tumor Immunology, DKTK, DKFZ, Heidelberg, Germany.; Department of Neurology, Medical Faculty Mannheim, MCTN, Heidelberg University, Mannheim, Germany., Maaß K; Hopp Children's Cancer Center (KiTZ) and Division of Pediatric Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology, Immunology and Pulmonology, Heidelberg University Hospital, Heidelberg, Germany., Pajtler KW; Hopp Children's Cancer Center (KiTZ) and Division of Pediatric Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology, Immunology and Pulmonology, Heidelberg University Hospital, Heidelberg, Germany., Shankar GM; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts., Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Wildemann B; Molecular Neuroimmunology Group, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Winkler F; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Neurology and Neurooncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany., von Deimling A; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Platten M; Clinical Cooperation Unit Neuroimmunology and Brain Tumor Immunology, DKTK, DKFZ, Heidelberg, Germany.; Department of Neurology, Medical Faculty Mannheim, MCTN, Heidelberg University, Mannheim, Germany., Wick W; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Neurology and Neurooncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany., Sahm F; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany., Kessler T; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Neurology and Neurooncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany.

المصدر: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Jul 15; Vol. 30 (14), pp. 2974-2985.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Glioma*/genetics , Glioma*/cerebrospinal fluid , Glioma*/pathology , Glioma*/diagnosis , High-Throughput Nucleotide Sequencing*/methods , Biomarkers, Tumor*/cerebrospinal fluid , Biomarkers, Tumor*/genetics , DNA Copy Number Variations* , Cell-Free Nucleic Acids*/cerebrospinal fluid , Cell-Free Nucleic Acids*/genetics, Humans ; Female ; Middle Aged ; Male ; Aged ; Adult ; Central Nervous System Neoplasms/cerebrospinal fluid ; Central Nervous System Neoplasms/genetics ; Central Nervous System Neoplasms/diagnosis ; Central Nervous System Neoplasms/pathology ; Polymorphism, Single Nucleotide ; Young Adult ; Aged, 80 and over ; Brain Neoplasms/genetics ; Brain Neoplasms/cerebrospinal fluid ; Brain Neoplasms/pathology ; Brain Neoplasms/diagnosis

المؤلفون: Lukacova E; Department of Molecular Biology and Genomics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin (JFM CU), Martin, Slovakia., Hanzlikova Z; Geneton Ltd., Bratislava, Slovakia., Podlesnyi P; Instituto de Investigaciones Biomedicas de Barcelona (IIBB), CSIC /Centro Investigacion Biomedica en Red Enfermedades Neurodegenerativas (CiberNed), Barcelona, Spain., Sedlackova T; Geneton Ltd., Bratislava, Slovakia.; Science Park, Comenius University in Bratislava, Bratislava, Slovakia., Szemes T; Geneton Ltd., Bratislava, Slovakia.; Science Park, Comenius University in Bratislava, Bratislava, Slovakia., Grendar M; Laboratory of Bioinformatics and Biostatistics, Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin (JFM CU), Martin, Slovakia., Samec M; Department of Medical Biology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia., Hurtova T; Department of Dermatovenereology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia., Malicherova B; Department of Clinical Biochemistry, University Hospital in Martin and Jessenius Faculty of Medicine, Comenius University, Martin, Slovakia., Leskova K; Department of Pathological Anatomy, Jessenius Faculty of Medicine and University Hospital in Martin, Comenius University, Martin, Slovakia., Budis J; Geneton Ltd., Bratislava, Slovakia.; Science Park, Comenius University in Bratislava, Bratislava, Slovakia., Burjanivova T; Department of Molecular Biology and Genomics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin (JFM CU), Martin, Slovakia. BTatiana@seznam.cz.

المصدر: Scientific reports [Sci Rep] 2024 Jul 09; Vol. 14 (1), pp. 15786. Date of Electronic Publication: 2024 Jul 09.

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: Melanoma*/genetics , Melanoma*/pathology , Melanoma*/diagnosis , DNA Copy Number Variations* , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/blood, Humans ; Liquid Biopsy/methods ; Male ; Female ; Middle Aged ; Aged ; Adult ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Skin Neoplasms/blood ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase 4/genetics ; Aged, 80 and over ; Whole Genome Sequencing/methods ; Cyclin-Dependent Kinase Inhibitor p15/genetics