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: Zouaghi Y; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Choudhary AM; School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan.; FMH College of Medicine & Dentistry, Lahore, Pakistan., Irshad S; School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan., Adamo M; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Rehman KU; FMH College of Medicine & Dentistry, Lahore, Pakistan., Fatima A; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Shahid M; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Najmi N; Department of Obstetrics and Gynaecology, The Aga Khan University Hospital, Karachi, Pakistan., De Azevedo Correa F; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Habibi I; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Boizot A; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Niederländer NJ; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., Santoni F; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland.; Medigenome, Geneva, Switzerland., Acierno J; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland., Pitteloud N; University of Lausanne, Lausanne, Switzerland. nelly.pitteloud@chuv.ch.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland. nelly.pitteloud@chuv.ch.

المصدر: BMC genomics [BMC Genomics] 2024 Aug 14; Vol. 25 (1), pp. 787. Date of Electronic Publication: 2024 Aug 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Hypogonadism*/genetics , Polymorphism, Single Nucleotide* , Pedigree* , DNA Copy Number Variations*, Humans ; Pakistan ; Male ; Female ; Receptors, Kisspeptin-1/genetics ; Whole Genome Sequencing ; Receptors, LHRH/genetics ; Adult ; Membrane Proteins/genetics ; Nerve Tissue Proteins ; Extracellular Matrix Proteins

المؤلفون: Di Iorio E; Department of Molecular Medicine, University of Padova, 35121, Padova, Italy.; Clinical Genetics Unit, Azienda Ospedaliero Universitaria di Padova, 35121, Padova, Italy., Adamo GG; Department of Translational Medicine and for Romagna, University of Ferrara, 44121, Ferrara, Italy., Sorrentino U; Clinical Genetics Unit, Azienda Ospedaliero Universitaria di Padova, 35121, Padova, Italy.; Department of Women and Children's Health, University of Padova, 35121, Padova, Italy., De Nadai K; Department of Translational Medicine and for Romagna, University of Ferrara, 44121, Ferrara, Italy.; ERN-EYE Network - Center for Retinitis Pigmentosa of Veneto Region, Camposampiero Hospital, Azienda ULSS 6 Euganea, 35012, Camposampiero, Padova, Italy., Barbaro V; Veneto Eye Bank Foundation, 30174, Mestre, Venezia, Italy., Mura M; Department of Translational Medicine and for Romagna, University of Ferrara, 44121, Ferrara, Italy.; King Khaled Eye Specialist Hospital, 11462, Riyadh, Saudi Arabia., Pellegrini M; Department of Translational Medicine and for Romagna, University of Ferrara, 44121, Ferrara, Italy., Boaretto F; Clinical Genetics Unit, Azienda Ospedaliero Universitaria di Padova, 35121, Padova, Italy., Tavolato M; ERN-EYE Network - Center for Retinitis Pigmentosa of Veneto Region, Camposampiero Hospital, Azienda ULSS 6 Euganea, 35012, Camposampiero, Padova, Italy., Suppiej A; ERN-EYE Network - Center for Retinitis Pigmentosa of Veneto Region, Camposampiero Hospital, Azienda ULSS 6 Euganea, 35012, Camposampiero, Padova, Italy.; Department of Medical Sciences, University of Ferrara, 44121, Ferrara, Italy., Nasini F; Ophthalmic Unit, Azienda Ospedaliero Universitaria di Ferrara, 44124, Cona, Ferrara, Italy., Salviati L; Clinical Genetics Unit, Azienda Ospedaliero Universitaria di Padova, 35121, Padova, Italy.; Department of Women and Children's Health, University of Padova, 35121, Padova, Italy., Parmeggiani F; Department of Translational Medicine and for Romagna, University of Ferrara, 44121, Ferrara, Italy. francesco.parmeggiani@unife.it.; ERN-EYE Network - Center for Retinitis Pigmentosa of Veneto Region, Camposampiero Hospital, Azienda ULSS 6 Euganea, 35012, Camposampiero, Padova, Italy. francesco.parmeggiani@unife.it.

المصدر: Scientific reports [Sci Rep] 2024 Aug 10; Vol. 14 (1), pp. 18580. Date of Electronic Publication: 2024 Aug 10.

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: Retinitis Pigmentosa*/genetics , Pedigree* , Eye Proteins*/genetics , DNA Copy Number Variations*, Humans ; Female ; Male ; Adult ; Middle Aged ; High-Throughput Nucleotide Sequencing ; Mutation ; Frameshift Mutation ; Genes, Dominant ; Exons/genetics ; Heterozygote

المؤلفون: Korenková V; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic. vlasta.korenkova@lf1.cuni.cz., Weisz F; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Perglerová A; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Cacciò SM; Department of Infectious Diseases, Istituto Superiore Di Sanita, Rome, Italy., Nohýnková E; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Tůmová P; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.

المصدر: Parasites & vectors [Parasit Vectors] 2024 Aug 10; Vol. 17 (1), pp. 336. Date of Electronic Publication: 2024 Aug 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101462774 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-3305 (Electronic) Linking ISSN: 17563305 NLM ISO Abbreviation: Parasit Vectors Subsets: MEDLINE

مواضيع طبية MeSH: Giardia lamblia*/genetics , Giardia lamblia*/drug effects , DNA Copy Number Variations* , Metronidazole*/pharmacology , Drug Resistance*/genetics , Giardiasis*/parasitology , Giardiasis*/drug therapy , Antiprotozoal Agents*/pharmacology, Humans ; High-Throughput Nucleotide Sequencing ; Protozoan Proteins/genetics

المؤلفون: Tosello V; Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Grassi A; Clinical Research Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Rose D; Sequencing Solutions, Roche Diagnostics Deutschland GmbH, Mannheim, Germany., Bao LC; Department of Surgery, Oncology, Gastroenterology, University of Padova, Padua, Italy.; Medical Oncology 2, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Zulato E; Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Dalle Fratte C; Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Polano M; Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico di Aviano IRCCS, Aviano, Italy., Del Bianco P; Clinical Research Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Pasello G; Department of Surgery, Oncology, Gastroenterology, University of Padova, Padua, Italy.; Medical Oncology 2, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Guarneri V; Department of Surgery, Oncology, Gastroenterology, University of Padova, Padua, Italy.; Medical Oncology 2, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Indraccolo S; Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. stefano.indraccolo@iov.veneto.it.; Department of Surgery, Oncology, Gastroenterology, University of Padova, Padua, Italy. stefano.indraccolo@iov.veneto.it., Bonanno L; Department of Surgery, Oncology, Gastroenterology, University of Padova, Padua, Italy.; Medical Oncology 2, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.

المصدر: Scientific reports [Sci Rep] 2024 Aug 09; Vol. 14 (1), pp. 18545. Date of Electronic Publication: 2024 Aug 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: Carcinoma, Non-Small-Cell Lung*/genetics , Carcinoma, Non-Small-Cell Lung*/drug therapy , Carcinoma, Non-Small-Cell Lung*/pathology , DNA Copy Number Variations* , Lung Neoplasms*/genetics , Lung Neoplasms*/drug therapy , Lung Neoplasms*/pathology, Humans ; Male ; Female ; Liquid Biopsy/methods ; Aged ; Middle Aged ; Retrospective Studies ; High-Throughput Nucleotide Sequencing/methods ; Immune Checkpoint Inhibitors/therapeutic use ; Aged, 80 and over ; Support Vector Machine

المؤلفون: Dias C; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: caroline.dias@childrenscolorado.org., Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Cai C; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Sun L; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Cabral K; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Brownstein CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Rockowitz S; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: christopher.walsh@childrens.harvard.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1544-1558. Date of Electronic Publication: 2024 Jul 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 15*/genetics , Brain*/metabolism , Brain*/pathology , DNA Copy Number Variations* , Autistic Disorder*/genetics, Humans ; Male ; Female ; Autism Spectrum Disorder/genetics ; Chromosome Duplication/genetics ; Chromatin/genetics ; Chromatin/metabolism ; Trisomy/genetics ; Child ; Neurons/metabolism ; Neurons/pathology ; Chromosome Aberrations ; Intellectual Disability

SCR Disease Name: Duplication 15q11-q13 Syndrome

المؤلفون: Kuo WH; Department of Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA., Wright SJ; Department of Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA.; Present address: Department of Biological and Biomedical Sciences, Rowan University, Glassboro, NJ, 08028, USA., Small LL; Department of Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA., Olsen KM; Department of Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA. kolsen@wustl.edu.

المصدر: BMC biology [BMC Biol] 2024 Aug 07; Vol. 22 (1), pp. 165. Date of Electronic Publication: 2024 Aug 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7007 (Electronic) Linking ISSN: 17417007 NLM ISO Abbreviation: BMC Biol Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Genome, Plant* , Trifolium*/genetics, Adaptation, Physiological/genetics