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Tytuł:
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions.
Autorzy:
Tolomeo D; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy.
Agostini A; Department of Precision and Regenerative Medicine and Jonic area, University of Bari Aldo Moro, Bari, Italy.
Solimando AG; Department of Precision and Regenerative Medicine and Jonic area, University of Bari Aldo Moro, Bari, Italy.
Cunsolo CL; UO Anatomia Patologica, Ospedale S. Martino, Belluno, Italy.
Cimarosto L; UO Anatomia Patologica, Ospedale S. Martino, Belluno, Italy.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
Hernández-Sánchez M; Universidad de Salamanca, IBSAL, Centro de Investigación del Cáncer, IBMCC-CSIC, Salamanca, Spain; Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, Universidad Complutense de Madrid, Madrid, Spain.
Hernández-Rivas JM; Universidad de Salamanca, IBSAL, Centro de Investigación del Cáncer, IBMCC-CSIC, Salamanca, Spain.
Storlazzi CT; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy. Electronic address: .
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Źródło:
Cancer genetics [Cancer Genet] 2023 Apr; Vol. 272-273, pp. 16-22. Date of Electronic Publication: 2023 Jan 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukemia, Lymphocytic, Chronic, B-Cell*/genetics
MicroRNAs*/genetics
Humans ; Sequence Deletion ; Homozygote ; Translocation, Genetic ; Chromosome Aberrations ; RNA ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 13/metabolism ; GTPase-Activating Proteins/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.
Autorzy:
Keyes E; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Larijani M; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Castelo-Soccio L; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Treat JR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
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Źródło:
Pediatric dermatology [Pediatr Dermatol] 2022 May; Vol. 39 (3), pp. 491-493. Date of Electronic Publication: 2022 Mar 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 13*
Trisomy*
Hidradenitis Suppurativa/*complications
Trisomy 13 Syndrome/*diagnosis
Child, Preschool ; Hidradenitis Suppurativa/diagnosis ; Hidradenitis Suppurativa/genetics ; Hidradenitis Suppurativa/therapy ; Humans ; Immunoglobulins/administration & dosage ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/therapy ; Male ; Trisomy 13 Syndrome/complications
Czasopismo naukowe
Szczegóły
Tytuł:
First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome.
Autorzy:
Hamza N; National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman.
Al-Araimi M; National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman.
Al Salmani K; National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman.
Al Obeidani S; National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman.
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Źródło:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2023 May; Vol. 23 (2), pp. 264-268. Date of Electronic Publication: 2023 May 31.
Typ publikacji:
Case Reports
MeSH Terms:
Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
Humans ; Female ; Child, Preschool ; DNA Methylation ; Chromosomes, Human, Pair 13/genetics ; Fetal Growth Retardation ; Phenotype
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Chromosome 11q13 amplification correlates with poor response and prognosis to PD-1 blockade in unresectable hepatocellular carcinoma.
Autorzy:
Yan K; Department of Hepatic Surgery (V), The Third Affiliated Hospital of Naval Medical University, Shanghai, China.
Zhang D; The Medical Department, 3D Medicines Inc., Shanghai, China.
Chen Y; The Medical Department, 3D Medicines Inc., Shanghai, China.
Lu W; Department of Hepatic Surgery (V), The Third Affiliated Hospital of Naval Medical University, Shanghai, China.
Huang M; The Medical Department, 3D Medicines Inc., Shanghai, China.
Cai J; The Medical Department, 3D Medicines Inc., Shanghai, China.
Chen S; The Medical Department, 3D Medicines Inc., Shanghai, China.
Bei T; The Medical Department, 3D Medicines Inc., Shanghai, China.
Bai Y; The Medical Department, 3D Medicines Inc., Shanghai, China.
Lv J; Department of Thoracic Surgery, Changzheng Hospital, Shanghai, China.
Fu Y; Department of Hepatic Surgery (V), The Third Affiliated Hospital of Naval Medical University, Shanghai, China.
Zhang H; Department of Hepatic Surgery (V), The Third Affiliated Hospital of Naval Medical University, Shanghai, China.
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Źródło:
Frontiers in immunology [Front Immunol] 2023 Mar 28; Vol. 14, pp. 1116057. Date of Electronic Publication: 2023 Mar 28 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carcinoma, Hepatocellular*/drug therapy
Carcinoma, Hepatocellular*/genetics
Liver Neoplasms*/pathology
Venous Thrombosis*
Humans ; Chromosomes ; DNA Copy Number Variations ; Prognosis ; Programmed Cell Death 1 Receptor ; Retrospective Studies ; Chromosomes, Human, Pair 13
Czasopismo naukowe
Szczegóły
Tytuł:
Holoprosencephaly in Patau Syndrome.
Autorzy:
Schlosser AS; Universidade Católica de Brasília, Brasília, DF, Brazil.
Costa GJC; Universidade Católica de Brasília, Brasília, DF, Brazil.
Silva HSD; Universidade Católica de Brasília, Brasília, DF, Brazil.
Mello JLM; Universidade Católica de Brasília, Brasília, DF, Brazil.
Gomes LO; Universidade Católica de Brasília, Brasília, DF, Brazil.
Onoyama MMO; Centro Universitário do Planalto Central Apparecido dos Santos, Brasília, DF, Brazil.
Costa TMC; Tatiana Medicina e Imagem, Brasília, DF, Brazil.
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Źródło:
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2023 Mar 13; Vol. 41, pp. e2022027. Date of Electronic Publication: 2023 Mar 13 (Print Publication: 2023).
Typ publikacji:
Case Reports
MeSH Terms:
Holoprosencephaly*/diagnosis
Holoprosencephaly*/diagnostic imaging
Polydactyly*/complications
Polydactyly*/diagnosis
Polydactyly*/genetics
Infant, Newborn ; Pregnancy ; Infant ; Humans ; Female ; Trisomy 13 Syndrome/complications ; Trisomy 13 Syndrome/diagnosis ; Trisomy ; Mutation ; Chromosomes, Human, Pair 13
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Autorzy:
Pluta N; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Zimmer F; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Köhler C; Department of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.
Lücke T; Department of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.
Mohr J; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Atlan D; Phenosystems SA, 1440 Braine le Chateau, Belgium.
Wolf B; iCoSys, University of Applied Sciences Western Switzerland, 1700 Fribourg, Switzerland.
Zaum AK; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Rost S; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.; Medical Genetics Center (MGZ), 80335 Munich, Germany.
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Źródło:
Genes [Genes (Basel)] 2022 Sep 28; Vol. 13 (10). Date of Electronic Publication: 2022 Sep 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Sarcoglycans*/genetics
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Female ; Chromosomes, Human, Pair 13 ; Homozygote ; Whole Genome Sequencing
Czasopismo naukowe
Szczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Autorzy:
Sagi-Dain L; Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, 7 Michal St, Haifa, Israel. .
Goldberg Y; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.
Peleg A; Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, 7 Michal St, Haifa, Israel.
Sukenik-Halevy R; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sofrin-Drucker E; National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Appelman Z; Department of Obstetrics and Gynecology, Kaplan Medical Center Rehovot (Affiliated with Hebrew University, Jerusalem), Rehovot, Israel.
Josefsberg BYS; Genetics Institute, Kaplan Medical Center, Rehovot, Israel.
Ben-Shachar S; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Vinkler C; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
Basel-Salmon L; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Maya I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.
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Źródło:
Human genetics [Hum Genet] 2019 Oct; Vol. 138 (10), pp. 1145-1153. Date of Electronic Publication: 2019 Jul 18.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Phenotype*
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Banding ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Young Adult
Czasopismo naukowe
Szczegóły
Tytuł:
Robust Sampling of Defective Pathways in Multiple Myeloma.
Autorzy:
Fernández-Martínez JL; Group of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, Oviedo 33007, Asturias, Spain. .
de Andrés-Galiana EJ; Group of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, Oviedo 33007, Asturias, Spain. .; Department of Computer Science, University of Oviedo, Oviedo 33007, Asturias, Spain. .
Fernández-Ovies FJ; Group of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, Oviedo 33007, Asturias, Spain. .
Cernea A; Group of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, Oviedo 33007, Asturias, Spain. .
Kloczkowski A; Battelle Center for Mathematical Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA. .; Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA. .; Future Value Creation Research Center, Graduate School of Informatics, Nagoya University, Nagoya 464-8601, Japan. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Sep 21; Vol. 20 (19). Date of Electronic Publication: 2019 Sep 21.
Typ publikacji:
Journal Article
MeSH Terms:
Bone Marrow Cells/*metabolism
Chromosomes, Human, Pair 13/*genetics
Hematopoietic Stem Cells/*metabolism
Multiple Myeloma/*metabolism
Algorithms ; Aneuploidy ; Antigens, CD34/immunology ; Chromosomes, Human, Pair 13/metabolism ; Gene Expression Profiling ; Hematopoietic Stem Cells/immunology ; Humans ; Multiple Myeloma/genetics ; Multiple Myeloma/immunology ; Retrospective Studies ; Signal Transduction ; Stromal Cells/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The inherited variations of a p53-responsive enhancer in 13q12.12 confer lung cancer risk by attenuating TNFRSF19 expression.
Autorzy:
Shao L; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Zuo X; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Yang Y; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Zhang Y; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Yang N; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.
Shen B; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, 211126, China.
Wang J; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, 211126, China.
Wang X; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Li R; Department of Cancer Biotherapy Center, The Third Affiliated Hospital of Kunming Medical University (Tumor Hospital of Yunnan Province), Kunming, 650000, Yunnan, China.
Jin G; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, 211126, China.; Collaborative Innovation Center for Cancer Personalized Medicine, Jiangsu Key Lab of Cancer Biomarkers, Prevention & Treatment, Cancer Center, Nanjing Medical University, Nanjing, 211126, China.
Yu D; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Chen Y; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Sun L; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China.
Li Z; Department of Cancer Biotherapy Center, The Third Affiliated Hospital of Kunming Medical University (Tumor Hospital of Yunnan Province), Kunming, 650000, Yunnan, China.
Fu Q; Department of Cancer Biotherapy Center, The Third Affiliated Hospital of Kunming Medical University (Tumor Hospital of Yunnan Province), Kunming, 650000, Yunnan, China.
Hu Z; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, 211126, China.; Collaborative Innovation Center for Cancer Personalized Medicine, Jiangsu Key Lab of Cancer Biomarkers, Prevention & Treatment, Cancer Center, Nanjing Medical University, Nanjing, 211126, China.
Han X; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China.
Song X; Department of Cancer Biotherapy Center, The Third Affiliated Hospital of Kunming Medical University (Tumor Hospital of Yunnan Province), Kunming, 650000, Yunnan, China. .
Shen H; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, 211126, China. .; Collaborative Innovation Center for Cancer Personalized Medicine, Jiangsu Key Lab of Cancer Biomarkers, Prevention & Treatment, Cancer Center, Nanjing Medical University, Nanjing, 211126, China. .
Sun Y; Key laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing, 211126, China. .; Collaborative Innovation Center for Cancer Personalized Medicine, Jiangsu Key Lab of Cancer Biomarkers, Prevention & Treatment, Cancer Center, Nanjing Medical University, Nanjing, 211126, China. .; Department of Cell Biology, Nanjing Medical University, Nanjing, 211126, China. .
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Źródło:
Genome biology [Genome Biol] 2019 May 24; Vol. 20 (1), pp. 103. Date of Electronic Publication: 2019 May 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 13*
Enhancer Elements, Genetic*
Lung Neoplasms/*genetics
Receptors, Tumor Necrosis Factor/*metabolism
Tumor Suppressor Protein p53/*metabolism
Apoptosis ; Cell Line, Tumor ; DNA Repair ; Gene Expression Regulation ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Linkage Disequilibrium ; Lung Neoplasms/metabolism ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Szczegóły
Tytuł:
Utility of STAT6 and 13q14 deletion in the classification of the benign spindle cell stromal tumors of the breast.
Autorzy:
Magro G; Department of Medical and Surgical Sciences and Advanced Technologies, G.F. Ingrassia, Azienda Ospedaliero-Universitaria 'Policlinico-Vittorio Emanuele,' Anatomic Pathology Section, School of Medicine, University of Catania, 95123 Catania, Italy. Electronic address: .
Angelico G; Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi,' Section of Anatomic Pathology, University of Messina, 98122 Messina, Italy.
Righi A; Department of Pathology, Rizzoli Institute, Bologna, 40136 Italy.
Benini S; Department of Pathology, Rizzoli Institute, Bologna, 40136 Italy.
Salvatorelli L; Department of Medical and Surgical Sciences and Advanced Technologies, G.F. Ingrassia, Azienda Ospedaliero-Universitaria 'Policlinico-Vittorio Emanuele,' Anatomic Pathology Section, School of Medicine, University of Catania, 95123 Catania, Italy.
Palazzo J; Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, 19107 PA, USA.
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Źródło:
Human pathology [Hum Pathol] 2018 Nov; Vol. 81, pp. 55-64. Date of Electronic Publication: 2018 Jun 27.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Biomarkers, Tumor*/analysis
Biomarkers, Tumor*/genetics
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Breast Neoplasms/*chemistry
Breast Neoplasms/*genetics
Neoplasms, Connective and Soft Tissue/*chemistry
Neoplasms, Connective and Soft Tissue/*genetics
STAT6 Transcription Factor/*analysis
Stromal Cells/*chemistry
Aged ; Aged, 80 and over ; Breast Neoplasms/classification ; Breast Neoplasms/pathology ; Breast Neoplasms, Male/chemistry ; Breast Neoplasms, Male/genetics ; Breast Neoplasms, Male/pathology ; Female ; Fibroma/chemistry ; Fibroma/genetics ; Fibroma/pathology ; Genetic Predisposition to Disease ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lipoma/chemistry ; Lipoma/genetics ; Lipoma/pathology ; Male ; Middle Aged ; Neoplasms, Connective and Soft Tissue/classification ; Neoplasms, Connective and Soft Tissue/pathology ; Neoplasms, Muscle Tissue/chemistry ; Neoplasms, Muscle Tissue/genetics ; Neoplasms, Muscle Tissue/pathology ; Phenotype ; Predictive Value of Tests ; Solitary Fibrous Tumors/chemistry ; Solitary Fibrous Tumors/genetics ; Solitary Fibrous Tumors/pathology ; Stromal Cells/pathology
Czasopismo naukowe
Szczegóły
Tytuł:
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
Autorzy:
Pratt D; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA. .
Abdullaev Z; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Papanicolau-Sengos A; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Ketchum C; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Panneer Selvam P; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Chung HJ; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Lee I; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Raffeld M; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Gilbert MR; Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Armstrong TS; Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Pytel P; Department of Pathology, University of Chicago Medicine, Chicago, IL, USA.
Borys E; Department of Pathology, Loyola University Medical Center, Maywood, IL, USA.
Klonoski JM; Department of Pathology and ARUP Laboratories, University of Utah Health Sciences Center, Salt Lake City, USA.
McCord M; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Horbinski C; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Brat D; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Perry A; Department of Pathology, University of California, San Francisco, CA, USA.
Solomon D; Department of Pathology, University of California, San Francisco, CA, USA.
Eberhart C; Department of Neuropathology and Ophthalmic Pathology, Johns Hopkins University, Baltimore, MD, USA.
Giannini C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Quezado M; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA.
Aldape K; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20814, USA. .
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Źródło:
Acta neuropathologica [Acta Neuropathol] 2022 Mar; Vol. 143 (3), pp. 403-414. Date of Electronic Publication: 2022 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Astrocytoma*/genetics
Astrocytoma*/pathology
Brain Neoplasms*/genetics
Brain Neoplasms*/pathology
Glioma*
Monosomy*
Mutation*/genetics
Tumor Suppressor Protein p53*/genetics
Chromosomes, Human, Pair 13 ; Humans ; Middle Aged
Czasopismo naukowe
Szczegóły
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
Szczegóły
Tytuł:
A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.
Autorzy:
Joynt ACM; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Deshwar AR; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Zon J; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Dupuis L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Wherrett DK; Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1821. Date of Electronic Publication: 2021 Oct 08.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Brain*/diagnostic imaging
Brain*/pathology
Chromosome Disorders*/diagnosis
Growth Hormone*/deficiency
Translocation, Genetic*
Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 5/genetics ; Female ; Humans ; Trisomy
SCR Disease Name:
13q deletion syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.
Autorzy:
Moia R; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Favini C; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Ferri V; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Forestieri G; Laboratory of Experimental Hematology, Institute of Oncology Research, Bellinzona, Switzerland.
Terzi Di Bergamo L; Laboratory of Experimental Hematology, Institute of Oncology Research, Bellinzona, Switzerland.
Schipani M; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Sagiraju S; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Andorno A; Division of Pathology, Department of Health Sciences, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Rasi S; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Adhinaveni R; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Talotta D; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Al Essa W; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
De Paoli L; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Margiotta Casaluci G; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Patriarca A; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Boldorini RL; Division of Pathology, Department of Health Sciences, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
Rossi D; Laboratory of Experimental Hematology, Institute of Oncology Research, Bellinzona, Switzerland.; Division of Hematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland.
Gaidano G; Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale and Ospedale Maggiore della Carità, Novara, Italy.
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Źródło:
British journal of haematology [Br J Haematol] 2021 Oct; Vol. 195 (1), pp. 108-112. Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
DNA, Neoplasm/*blood
Leukemia, Lymphocytic, Chronic, B-Cell/*pathology
Lymph Nodes/*pathology
Adenine/analogs & derivatives ; Adenine/therapeutic use ; Aged ; Biopsy ; Chromosome Deletion ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 13/ultrastructure ; Chromosomes, Human, Pair 17/ultrastructure ; DNA Copy Number Variations ; DNA, Neoplasm/analysis ; Female ; Genes, Immunoglobulin ; Humans ; Immunoglobulin Heavy Chains/genetics ; Immunotherapy ; Leukemia, Lymphocytic, Chronic, B-Cell/blood ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Lymph Nodes/chemistry ; Male ; Middle Aged ; Mutation ; Piperidines/therapeutic use
Czasopismo naukowe
Szczegóły
Tytuł:
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7.
Autorzy:
Orsini A; U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy. Electronic address: .
Bonuccelli A; U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Striano P; Neurologia Pediatrica e Malattie Muscolari, Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Istituto 'G. Gaslini', Università di Genova, Italy.
Azzara A; SOD Citogenetica, Azienda Ospedaliera Universitaria Pisana, Italy.
Costagliola G; U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Consolini R; U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Peroni DG; U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Valetto A; SOD Citogenetica, Azienda Ospedaliera Universitaria Pisana, Italy.
Bertini V; SOD Citogenetica, Azienda Ospedaliera Universitaria Pisana, Italy.
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Źródło:
Seizure [Seizure] 2018 Jul; Vol. 59, pp. 38-40. Date of Electronic Publication: 2018 Apr 26.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Epilepsy, Generalized/*genetics
Intellectual Disability/*genetics
Brain/drug effects ; Brain/physiopathology ; Child ; Epilepsy, Generalized/drug therapy ; Epilepsy, Generalized/pathology ; Epilepsy, Generalized/physiopathology ; Face/abnormalities ; Humans ; Infant ; Intellectual Disability/pathology ; Intellectual Disability/physiopathology ; Male ; Phenotype ; Rho Guanine Nucleotide Exchange Factors/genetics ; SOXB1 Transcription Factors/genetics ; Siblings
Czasopismo naukowe
Szczegóły
Tytuł:
Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant.
Autorzy:
Johnson SL; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, USA.
Walters-Sen LC; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, USA.
Stanek JW; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, USA.
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Źródło:
The American journal of case reports [Am J Case Rep] 2018 Mar 29; Vol. 19, pp. 369-373. Date of Electronic Publication: 2018 Mar 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Connexin 30/*genetics
Placenta Diseases/*pathology
Adult ; Fatal Outcome ; Female ; Fetal Growth Retardation ; Gestational Age ; Humans ; Infant, Newborn ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 2130

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