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Wyszukujesz frazę ""Chromosomes, Human, Pair 13"" wg kryterium: Temat


Tytuł :
A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
Autorzy :
Bertini V; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Giuliani C; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Ferreri MI; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Orsini A; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bonuccelli A; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Peroni D; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bonaglia C; Cytogenetics Laboratory, Scientific Institute, IRCSS Eugenio Medea, Bosisio Parini, Italy.
Valetto A; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
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Źródło :
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2021 Sep; Vol. 34 (17), pp. 2918-2922. Date of Electronic Publication: 2019 Oct 01.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 13*/genetics
Chromosomes ; Cytogenetic Analysis ; Female ; Genetic Markers ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Monosomy 13 in Mammary Myofibroblastoma.
Autorzy :
Panagopoulos I; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway .
Gorunova L; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Lund-Iversen M; Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Heim S; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
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Źródło :
Anticancer research [Anticancer Res] 2021 Aug; Vol. 41 (8), pp. 3747-3751.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 13*
Monosomy/*genetics
Neoplasms, Muscle Tissue/*genetics
Aged ; Chromosome Banding ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
High Relative Biological Effectiveness of 2 MeV Fast Neutrons for Induction of Medulloblastoma in Ptch1+/- Mice with Radiation-specific Deletion on Chromosome 13.
Autorzy :
Tsuruoka C; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Kaminishi M; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Shinagawa M; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Shang Y; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Amasaki Y; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Shimada Y; Institute for Environmental Science, Kamikita-gun, Aomori, Japan.
Kakinuma S; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
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Źródło :
Radiation research [Radiat Res] 2021 Aug 01; Vol. 196 (2), pp. 225-234.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 13/*radiation effects
Medulloblastoma/*genetics
Neoplasms, Radiation-Induced/*genetics
Patched-1 Receptor/*genetics
Animals ; Chromosomes, Human, Pair 13/genetics ; Dose-Response Relationship, Radiation ; Fast Neutrons/adverse effects ; Humans ; Loss of Heterozygosity/genetics ; Loss of Heterozygosity/radiation effects ; Medulloblastoma/etiology ; Medulloblastoma/pathology ; Mice ; Neoplasms, Radiation-Induced/pathology ; Radiation Tolerance/genetics ; Radiation Tolerance/radiation effects ; Relative Biological Effectiveness
Czasopismo naukowe
Tytuł :
Genetic variability in 13q33 and 9q34 is linked to aggressiveness patterns and a higher risk of progression of non-muscle-invasive bladder cancer at the time of diagnosis.
Autorzy :
Lenfant L; GRC n°5 Predictive Onco-Urology, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; GRC n°5 Predictive Onco-Urology, AP-HP, Tenon Hospital, Sorbonne University, Paris, France.
Cancel-Tassin G; GRC n°5 Predictive Onco-Urology, AP-HP, Tenon Hospital, Sorbonne University, Paris, France.; CeRePP, Paris, France.
Gazut S; Université Paris-Saclay, CEA, LIST, Palaiseau, France.
Compérat E; GRC n°5 Predictive Onco-Urology, AP-HP, Tenon Hospital, Sorbonne University, Paris, France.; CeRePP, Paris, France.
Rouprêt M; GRC n°5 Predictive Onco-Urology, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; CeRePP, Paris, France.
Cussenot O; GRC n°5 Predictive Onco-Urology, AP-HP, Tenon Hospital, Sorbonne University, Paris, France.; CeRePP, Paris, France.
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Źródło :
BJU international [BJU Int] 2021 Mar; Vol. 127 (3), pp. 375-383. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 9*
Neoplasm Recurrence, Local/*genetics
Urinary Bladder Neoplasms/*genetics
Urinary Bladder Neoplasms/*pathology
Age Factors ; Aged ; Alleles ; Disease Progression ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Neoplasm Grading ; Neoplasm Invasiveness ; Neoplasm Staging ; Polymorphism, Single Nucleotide ; Urinary Bladder Neoplasms/diagnosis
Czasopismo naukowe
Tytuł :
Chronic lymphocytic leukemia in a young population.
Autorzy :
Alshemmari SH; Department of Medicine, Faculty of Medicine, Kuwait; Department of Hematology, Kuwait Cancer Center, Kuwait. Electronic address: .
Hamdah A; Department of Hematology, Kuwait Cancer Center, Kuwait.
Pandita R; Department of Hematology, Kuwait Cancer Center, Kuwait.
Kunhikrishnan A; Department of Hematology, Kuwait Cancer Center, Kuwait.
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Źródło :
Leukemia research [Leuk Res] 2021 Nov; Vol. 110, pp. 106668. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Mutation*
Biomarkers, Tumor/*genetics
Chromosomes, Human, Pair 13/*genetics
Immunoglobulin Heavy Chains/*genetics
Immunoglobulin Variable Region/*genetics
Leukemia, Lymphocytic, Chronic, B-Cell/*pathology
Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Kuwait/epidemiology ; Leukemia, Lymphocytic, Chronic, B-Cell/epidemiology ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Survival Rate ; Trisomy
Czasopismo naukowe
Tytuł :
Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.
Autorzy :
Streicher SA; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Lim U; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Park SL; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Li Y; Department of Epidemiology and Biostatistics, University of California - San Francisco, San Francisco, California, United States of America.
Sheng X; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Hom V; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Xia L; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Pooler L; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Shepherd J; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Loo LWM; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Darst BF; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Highland HM; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.
Polfus LM; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Bogumil D; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Ernst T; University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
Buchthal S; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Franke AA; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Setiawan VW; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Tiirikainen M; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Wilkens LR; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
Haiman CA; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Stram DO; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.
Cheng I; Department of Epidemiology and Biostatistics, University of California - San Francisco, San Francisco, California, United States of America.
Le Marchand L; University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, Hawaii, United States of America.
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Źródło :
PloS one [PLoS One] 2021 Jul 30; Vol. 16 (7), pp. e0249615. Date of Electronic Publication: 2021 Jul 30 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Genome-Wide Association Study*
Adiposity/*genetics
Pancreas/*metabolism
Aged ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 6/genetics ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/pathology ; Ethnic Groups/genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Pancreas/diagnostic imaging ; Phenotype ; Polymorphism, Single Nucleotide ; Protein Tyrosine Phosphatases, Non-Receptor/genetics
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin.
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. Electronic address: .
Chen CY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2021 Jul; Vol. 60 (4), pp. 771-774.
Typ publikacji :
Case Reports
MeSH Terms :
Amniocentesis*
Abnormalities, Multiple/*diagnosis
Chromosome Disorders/*diagnosis
Craniofacial Abnormalities/*diagnosis
Abnormalities, Multiple/embryology ; Abortion, Eugenic ; Adult ; Chromosome Deletion ; Chromosome Disorders/embryology ; Chromosomes, Human, Pair 13/genetics ; Craniofacial Abnormalities/embryology ; Female ; Humans ; Karyotype ; Mosaicism/embryology ; Pregnancy ; Ring Chromosomes
SCR Disease Name :
13q deletion syndrome; Chromosome 13 ring
Raport
Tytuł :
Male Infertility in Robertsonian Translocation: A Case Report.
Autorzy :
Almesned RK; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alsuhaibani SS; Department of Urology, Division of Andrology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alali HJ; Department of Urology, Division of Andrology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Qubbaj WA; Assisted Reproductive Technology Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al Hathal NK; Department of Urology, Division of Andrology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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Źródło :
The American journal of case reports [Am J Case Rep] 2020 May 15; Vol. 21, pp. e921616. Date of Electronic Publication: 2020 May 15.
Typ publikacji :
Case Reports
MeSH Terms :
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 14*
Semen Analysis*
Translocation, Genetic*
Infertility, Male/*genetics
Adult ; Fertilization in Vitro/methods ; Genetic Counseling/psychology ; Humans ; Informed Consent ; Male
Raport
Tytuł :
Pan-cancer molecular analysis of the RB tumor suppressor pathway.
Autorzy :
Knudsen ES; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA. .; Department of Molecular and Cellular Biology, Buffalo, USA. .; Center for Personalized Medicine, Buffalo, USA. .
Nambiar R; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA.; Department of Molecular and Cellular Biology, Buffalo, USA.
Rosario SR; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA.; Department of Genetics and Genomics, Buffalo, USA.
Smiraglia DJ; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA.; Department of Genetics and Genomics, Buffalo, USA.
Goodrich DW; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA.; Department of Pharmacology and Therapeutics, Buffalo, USA.
Witkiewicz AK; Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14203, USA. .; Center for Personalized Medicine, Buffalo, USA. .; Department of Pathology, Buffalo, USA. .
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Źródło :
Communications biology [Commun Biol] 2020 Apr 02; Vol. 3 (1), pp. 158. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosomes, Human, Pair 13*
Biomarkers, Tumor/*genetics
Retinal Neoplasms/*genetics
Retinoblastoma/*genetics
Biomarkers, Tumor/metabolism ; Cell Proliferation ; Cyclin-Dependent Kinase 4/genetics ; Cyclin-Dependent Kinase 4/metabolism ; Cyclin-Dependent Kinase 6/genetics ; Cyclin-Dependent Kinase 6/metabolism ; Databases, Genetic ; Disease Progression ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Prognosis ; Retinal Neoplasms/metabolism ; Retinal Neoplasms/pathology ; Retinoblastoma/metabolism ; Retinoblastoma/pathology ; Retinoblastoma Binding Proteins/genetics ; Retinoblastoma Binding Proteins/metabolism ; Signal Transduction ; Transcriptome ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/metabolism
Czasopismo naukowe
Tytuł :
Parent-reported histories of adults with trisomy 13 syndrome.
Autorzy :
Lebedoff AN; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1743-1756. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Journal Article
MeSH Terms :
Survivors*
Chromosomes, Human, Pair 13/*genetics
Trisomy 13 Syndrome/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Interviews as Topic ; Male ; Parents ; Self-Help Groups ; Trisomy 13 Syndrome/epidemiology ; Trisomy 13 Syndrome/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.
Autorzy :
Hu XN; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Li LL; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Shi QY; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Hu ZM; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Zhang HG; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Jiang YT; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Liu RZ; Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China. Electronic address: .
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2021 May; Vol. 60 (3), pp. 554-558.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Chromosome Disorders/*diagnosis
Mosaicism/*embryology
Abortion, Eugenic ; Amniocentesis ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 13/genetics ; Cytogenetic Analysis ; Female ; Humans ; Karyotype ; Karyotyping ; Microarray Analysis ; Nuchal Translucency Measurement ; Pregnancy ; Ring Chromosomes ; Young Adult
SCR Disease Name :
Chromosome 13 ring
Czasopismo naukowe
Tytuł :
A Novel Case of Mammary-Type Myofibroblastoma With Sarcomatous Features.
Autorzy :
Strait AM; 22916Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Linos K; 22916Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Tafe LJ; 22916Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Muller KE; 22916Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
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Źródło :
International journal of surgical pathology [Int J Surg Pathol] 2021 May; Vol. 29 (3), pp. 308-313. Date of Electronic Publication: 2020 Aug 05.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Breast/*pathology
Breast Neoplasms, Male/*diagnosis
Neoplasms, Complex and Mixed/*diagnosis
Neoplasms, Muscle Tissue/*diagnosis
Aged ; Biomarkers, Tumor/genetics ; Breast/surgery ; Breast Neoplasms, Male/genetics ; Breast Neoplasms, Male/pathology ; Breast Neoplasms, Male/surgery ; Chromosomes, Human, Pair 13/genetics ; DNA Copy Number Variations ; Diagnosis, Differential ; Humans ; Male ; Neoplasms, Complex and Mixed/pathology ; Neoplasms, Complex and Mixed/surgery ; Neoplasms, Muscle Tissue/genetics ; Neoplasms, Muscle Tissue/pathology ; Neoplasms, Muscle Tissue/surgery
Czasopismo naukowe
Tytuł :
Retinoblastoma management in 13q deletion syndrome patients using super-selective chemotherapies and other cancer-directed interventions.
Autorzy :
Cobbs LV; Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Francis JH; Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Ophthalmology, Weill Cornell Medical College, New York Presbyterian Hospital, New York, New York.
Dunkel IJ; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Pediatrics, Weill Cornell Medical College, New York Presbyterian Hospital, New York, New York.
Gobin YP; Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Interventional Neuroradiology, Department of Neurosurgery, Weill Cornell Medicine, New York Presbyterian Hospital, New York, New York.
Brodie SE; Department of Ophthalmology, NYU Langone Health, New York, New York.
Abramson DH; Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Ophthalmology, Weill Cornell Medical College, New York Presbyterian Hospital, New York, New York.
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Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2021 May; Vol. 68 (5), pp. e28845. Date of Electronic Publication: 2020 Dec 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Antineoplastic Agents/*administration & dosage
Chromosome Disorders/*complications
Retinal Neoplasms/*drug therapy
Retinoblastoma/*drug therapy
Chromosome Deletion ; Chromosomes, Human, Pair 13 ; Female ; Humans ; Infant ; Infusions, Intra-Arterial ; Male ; Retinal Neoplasms/genetics ; Retinoblastoma/genetics ; Retrospective Studies ; Treatment Outcome
SCR Disease Name :
13q deletion syndrome
Czasopismo naukowe
Tytuł :
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia.
Autorzy :
Mahmood T; Becklin Centre, Leeds and York Partnership NHS Foundation Trust, Leeds, UK.
El-Asrag ME; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Division of Cardiovascular Sciences, School of Medicine, University of Manchester, Manchester, UK.
Poulter JA; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Cardno AG; Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
Tomlinson A; Becklin Centre, Leeds and York Partnership NHS Foundation Trust, Leeds, UK.; Department of Psychiatry, University of Oxford, Oxford, UK.
Ahmed S; NIHR-Sheffield Biomedical Research Centre, University of Sheffield, Sheffield, UK.
Al-Amri A; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; National Genetic Centre, Royal Hospital, Muscat, Oman.
Nazari J; Becklin Centre, Leeds and York Partnership NHS Foundation Trust, Leeds, UK.
Neill J; Division of Pharmacy and Optometry, University of Manchester, Manchester, UK.
Chamali RS; Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.
Kiwan N; Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.
Ghuloum S; Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.; Psychiatry Department, Hamad Medical Corporation, Doha, Qatar.
Alhaj HA; Sheffield Health and Social Care NHS Foundation Trust, Sheffield, UK.
Randerson Moor J; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Khan S; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Al-Amin H; Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.
Johnson CA; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Woodruff P; NIHR-Sheffield Biomedical Research Centre, University of Sheffield, Sheffield, UK.; Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.; Psychiatry Department, Hamad Medical Corporation, Doha, Qatar.; Sheffield Health and Social Care NHS Foundation Trust, Sheffield, UK.
Wilkinson ID; NIHR-Sheffield Biomedical Research Centre, University of Sheffield, Sheffield, UK.
Ali M; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Clapcote SJ; School of Biomedical Sciences, University of Leeds, Leeds, UK.
Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
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Źródło :
Schizophrenia bulletin [Schizophr Bull] 2021 Apr 29; Vol. 47 (3), pp. 796-802.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Chromosomes, Human, Pair 13/*genetics
Genes, Recessive/*genetics
Genetic Predisposition to Disease/*genetics
Psychotic Disorders/*genetics
Schizophrenia/*genetics
Endophenotypes ; Female ; Genetic Loci ; Humans ; Male ; Pedigree ; Psychotic Disorders/physiopathology ; Schizophrenia/physiopathology
Czasopismo naukowe
Tytuł :
Congenital Microcoria: Clinical Features and Molecular Genetics.
Autorzy :
Angée C; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Nedelec B; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Erjavec E; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Fares Taie L; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
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Źródło :
Genes [Genes (Basel)] 2021 Apr 22; Vol. 12 (5). Date of Electronic Publication: 2021 Apr 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Pupil Disorders/*congenital
Animals ; Chromosomes, Human, Pair 13/genetics ; Glaucoma, Open-Angle/genetics ; Glaucoma, Open-Angle/pathology ; Humans ; Intraocular Pressure/genetics ; Iris/physiology ; Molecular Biology/methods ; Myopia/genetics ; Myopia/pathology ; Pupil Disorders/genetics ; Pupil Disorders/pathology
SCR Disease Name :
Microcoria, congenital
Czasopismo naukowe
Tytuł :
miR-15a/16-1 deletion in activated B cells promotes plasma cell and mature B-cell neoplasms.
Autorzy :
Sewastianik T; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.; Department of Experimental Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.
Straubhaar JR; FAS Informatics, Harvard University, Cambridge, MA.
Zhao JJ; Department of Medical Oncology and.
Samur MK; Department of Medical Oncology and.; Department of Data Sciences, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.; Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, MA.
Adler K; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Tanton HE; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Shanmugam V; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
Nadeem O; Department of Medical Oncology and.
Dennis PS; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Pillai V; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
Wang J; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Jiang M; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Lin J; Department of Medical Oncology and.
Huang Y; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Brooks D; Center for Advanced Orthopedic Studies, Beth Israel-Deaconess Medical Center, Harvard Medical School, Boston, MA.
Bouxsein M; Center for Advanced Orthopedic Studies, Beth Israel-Deaconess Medical Center, Harvard Medical School, Boston, MA.
Dorfman DM; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
Pinkus GS; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
Robbiani DF; Laboratory of Molecular Immunology, Rockefeller University, New York, NY.
Ghobrial IM; Department of Medical Oncology and.
Budnik B; Mass Spectrometry and Proteomics Resource Laboratory, FAS Division of Science, Harvard University, Cambridge, MA; and.
Jarolim P; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
Munshi NC; Department of Medical Oncology and.; Jerome Lipper Center for Multiple Myeloma Research, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Anderson KC; Department of Medical Oncology and.; Jerome Lipper Center for Multiple Myeloma Research, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Carrasco RD; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA.
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Źródło :
Blood [Blood] 2021 Apr 08; Vol. 137 (14), pp. 1905-1919.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Lymphoma, Large B-Cell, Diffuse/*genetics
MicroRNAs/*genetics
Neoplasms, Plasma Cell/*genetics
Animals ; B-Lymphocytes/metabolism ; B-Lymphocytes/pathology ; Chromosome Deletion ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 13/genetics ; Gene Deletion ; Gene Expression Regulation, Neoplastic ; Humans ; Lymphoma, Large B-Cell, Diffuse/pathology ; Mice, Inbred C57BL ; Multigene Family ; Multiple Myeloma/genetics ; Multiple Myeloma/pathology ; Neoplasms, Plasma Cell/pathology ; Plasma Cells/metabolism ; Plasma Cells/pathology ; Plasmacytoma/genetics ; Plasmacytoma/pathology
SCR Disease Name :
13q deletion syndrome
Czasopismo naukowe
Tytuł :
Generation of a human induced pluripotent stem cells (MUi015-A) from skin fibroblast of retinoblastoma patient with 13q deletion syndrome.
Autorzy :
Tangprasittipap A; Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Chumchuen S; Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Pornratananont G; Section for Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Kitiyanant N; Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
Hongeng S; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. Electronic address: .
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Źródło :
Stem cell research [Stem Cell Res] 2021 Apr; Vol. 52, pp. 102211. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders*/genetics
Induced Pluripotent Stem Cells*
Retinal Neoplasms*
Retinoblastoma*/genetics
Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Fibroblasts ; Humans
SCR Disease Name :
13q deletion syndrome
Czasopismo naukowe
Tytuł :
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
Autorzy :
Chanes B; Louisiana State University, Baton Rouge, Louisiana, USA.
Arriaza M; Division of Endocrinology and Genetics, Hospital Dr. Gustavo Fricke, Viña del Mar, Chile.; Department of Pediatrics, Universidad de Valparaíso, Valparaíso, Chile.
Lacassie Y; Professor Emeritus, Department of Pediatrics, Division of Clinical Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1242-1246. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Case Reports
MeSH Terms :
Diseases in Twins/*genetics
Fetal Growth Retardation/*genetics
Turner Syndrome/*genetics
Child, Preschool ; Chromosomes, Human, Pair 13/genetics ; Diseases in Twins/diagnosis ; Diseases in Twins/pathology ; Female ; Fetal Growth Retardation/pathology ; Follow-Up Studies ; Humans ; Infant, Newborn ; Karyotype ; Mosaicism ; Phenotype ; Ring Chromosomes ; Turner Syndrome/pathology ; Twins, Monozygotic/genetics
SCR Disease Name :
Chromosome 13 ring
Raport
Tytuł :
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18.
Autorzy :
Safavi M; Molecular Pathology and Cytogenetics Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Haghi Ashtiani MT; Molecular Pathology and Cytogenetics Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Badv RS; Pediatric Neurology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Azari-Yam A; Molecular Pathology and Cytogenetics Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Vasei M; Molecular Pathology and Cytogenetics Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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Źródło :
Archives of Iranian medicine [Arch Iran Med] 2019 Oct 01; Vol. 22 (10), pp. 627-628. Date of Electronic Publication: 2019 Oct 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 13*
Translocation, Genetic*
Chromosome Disorders/*genetics
Chromosome Deletion ; Chromosome Disorders/diagnosis ; Chromosomes, Human, Pair 18/genetics ; Cytogenetic Analysis ; Humans ; Infant ; Male ; Ring Chromosomes
SCR Disease Name :
Chromosome 18 ring; Chromosome 18p deletion syndrome
Czasopismo naukowe

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