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


Tytuł :
Battle of the clones: paroxysmal nocturnal hemoglobinuria vs myelodysplastic syndrome.
Autorzy :
Friedrich C; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Hematology Laboratory, Cochin Hospital, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France. .
Gay J; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Hematology Laboratory, Cochin Hospital, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Alary AS; Institut Paoli-Calmettes (IPC), Genetic Laboratory, Marseille, France.
Arlet JB; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Internal Medicine Department, Georges Pompidou European Hospital, Paris, France.
Socie G; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Hematology Department, Saint Louis Hospital, INSERM U976, Université de Paris, Paris, France.
Fremaux-Bacchi V; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Immunology Laboratory, Georges Pompidou European Hospital, Paris, France.
Weiss IR; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Cytogenetics Department, Necker Hospital, Paris, France.
Kosmider O; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Hematology Laboratory, Cochin Hospital, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Darnige L; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires de Paris, Hematology Laboratory, Georges Pompidou European Hospital, INSERM UMR-S1140, Paris, France.
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Źródło :
Annals of hematology [Ann Hematol] 2020 Oct; Vol. 99 (10), pp. 2459-2461. Date of Electronic Publication: 2020 Jun 13.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Hemoglobinuria, Paroxysmal/*pathology
Myelodysplastic Syndromes/*pathology
Abnormal Karyotype ; Aged ; Anemia/etiology ; Antibodies, Monoclonal, Humanized/therapeutic use ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; Clone Cells/pathology ; Combined Modality Therapy ; DNA (Cytosine-5-)-Methyltransferases/genetics ; Erythrocyte Transfusion ; Hemoglobinuria, Paroxysmal/complications ; Hemoglobinuria, Paroxysmal/drug therapy ; Hemoglobinuria, Paroxysmal/genetics ; Humans ; Male ; Myelodysplastic Syndromes/complications ; Myelodysplastic Syndromes/genetics ; Neutrophils/pathology ; Remission Induction ; Repressor Proteins/genetics ; Splicing Factor U2AF/genetics
Raport
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
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
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
Tytuł :
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Autorzy :
Siavrienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. Electronic address: .
Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Maldžienė Ž; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Mikštienė V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Rančelis T; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Gueneau L; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
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Źródło :
Gene [Gene] 2020 Aug 30; Vol. 753, pp. 144816. Date of Electronic Publication: 2020 May 27.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Disorders/*genetics
Eyelids/*abnormalities
Intellectual Disability/*genetics
Limb Deformities, Congenital/*genetics
MicroRNAs/*genetics
Microcephaly/*genetics
Tracheoesophageal Fistula/*genetics
Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Comparative Genomic Hybridization/methods ; Developmental Disabilities/genetics ; Dwarfism/genetics ; Female ; Gene Duplication/genetics ; Glypicans/genetics ; Glypicans/metabolism ; Humans ; Phenotype
SCR Disease Name :
13q deletion syndrome; Oculodigitoesophagoduodenal syndrome
Czasopismo naukowe
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
Tytuł :
Bilateral Cleft Lip and Palate Accompanied by 13q- Syndrome with Deficiencies of FVII and FX: A Case Report.
Autorzy :
Mishima K
Shiraishi M
Umeda H
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Źródło :
The Journal of clinical pediatric dentistry [J Clin Pediatr Dent] 2019; Vol. 43 (4), pp. 288-291. Date of Electronic Publication: 2019 May 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*/complications
Chromosome Disorders*/genetics
Chromosomes, Human, Pair 13*/genetics
Cleft Lip*/genetics
Cleft Palate*/genetics
Factor VII Deficiency*/genetics
Factor VII ; Humans ; Palate
SCR Disease Name :
13q deletion syndrome
Czasopismo naukowe
Tytuł :
[Clinical features and genetic analysis of a fetus with holoprosencephaly].
Autorzy :
Yu J; Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. .
Li C
Zhang Y
Li-Ling J
Lyu Y
Cui H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 May 10; Vol. 37 (5), pp. 547-550.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Holoprosencephaly*/diagnostic imaging
Holoprosencephaly*/genetics
Holoprosencephaly*/pathology
Sequence Deletion*
Adult ; Chromosomes, Human, Pair 13/genetics ; Female ; Fetus ; Genetic Testing ; Humans ; Karyotyping ; Male ; Nuclear Proteins/genetics ; Pregnancy ; Prenatal Diagnosis ; Transcription Factors/genetics ; Ultrasonography, Prenatal ; Whole Exome Sequencing
Czasopismo naukowe
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
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
Tytuł :
Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18.
Autorzy :
Wallace SE; Sarah Lawrence College, Bronxville, NY, USA. .
Gilvary S; Sarah Lawrence College, Bronxville, NY, USA.
Smith MJ; Sarah Lawrence College, Bronxville, NY, USA.
Dolan SM; Sarah Lawrence College, Bronxville, NY, USA.; Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine/ Montefiore Medical Center, Bronx, NY, USA.
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Źródło :
Journal of genetic counseling [J Genet Couns] 2018 Jun; Vol. 27 (3), pp. 656-664. Date of Electronic Publication: 2017 Oct 27.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 18*
Genetic Counseling*
Social Support*
Parents/*psychology
Trisomy/*diagnosis
Adult ; Decision Making ; Family ; Female ; Humans ; Physicians ; Pregnancy ; Prenatal Diagnosis ; Surveys and Questionnaires
Czasopismo naukowe
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
Tytuł :
Clinical and molecular characterization of patients with acute myeloid leukemia and sole trisomies of chromosomes 4, 8, 11, 13 or 21.
Autorzy :
Bhatnagar B; Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA. .; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA. .
Eisfeld AK; Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
Kohlschmidt J; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.; Alliance Statistics and Data Center, The Ohio State University, Columbus, OH, USA.
Mrózek K; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Nicolet D; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.; Alliance Statistics and Data Center, The Ohio State University, Columbus, OH, USA.
Papaioannou D; Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
Walker CJ; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Orwick S; Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Blachly JS; Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Kolitz JE; Monter Cancer Center, Hofstra Northwell School of Medicine, Lake Success, NY, USA.
Powell BL; Wake Forest Baptist Comprehensive Cancer Center, Winston Salem, NC, USA.
Carroll AJ; University of Alabama at Birmingham, Birmingham, AL, USA.
Stone RM; Dana-Farber Cancer Institute, Boston, MA, USA.
Byrd JC; Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Bloomfield CD; Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.; The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
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Źródło :
Leukemia [Leukemia] 2020 Feb; Vol. 34 (2), pp. 358-368. Date of Electronic Publication: 2019 Aug 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Leukemia, Myeloid, Acute/*genetics
Trisomy/*genetics
Adult ; Aged ; Aged, 80 and over ; Chromosomes, Human, Pair 11/genetics ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Human, Pair 4/genetics ; Chromosomes, Human, Pair 8/genetics ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Autorzy :
Monin P
Reynaud N
Hanna N
Dupuis-Girod S
Till M
Arnaud P
Labalme A
Alix E
Poizat-Amar C
Faoucher M
Ravella L
Debost B
Obadia JF
Zech JC
Boileau C
Sanlaville D
Edery P
Putoux A
Schluth-Bolard C
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Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (2), pp. 72-79. Date of Electronic Publication: 2020 Mar 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mosaicism*
Aorta/*abnormalities
Marfan Syndrome/*etiology
Trisomy 13 Syndrome/*diagnosis
Chromosomes, Human, Pair 10/genetics ; Chromosomes, Human, Pair 13/genetics ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Translocation, Genetic ; Trisomy 13 Syndrome/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
[Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion].
Autorzy :
Wang H; Department of Clinical Laboratory, Children's Hospital of Soochow University, Suzhou, Jiangsu 215003, China. .
Huang C
Li L
Liu Y
Wang T
Zhang Y
Li H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Dec 10; Vol. 36 (12), pp. 1213-1218.
Typ publikacji :
Journal Article; Systematic Review
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*
Abnormalities, Multiple/*genetics
Child ; Chromosome Banding ; Chromosomes, Human, Pair 13/genetics ; Humans ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
Autorzy :
Tsutsumi M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Hattori H; Department of Clinical Genetics, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.; Department of Pediatrics, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
Akita N; Department of Pediatrics, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
Maeda N; Department of Pediatrics, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
Kubota T; Department of Ophthalmology, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
Horibe K; Department of Pediatrics, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
Fujita N; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
Kawai M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Shinkai Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Kato M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Kato T; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Kawamura R; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Suzuki F; Center for Collaboration in Research and Education, Fujita Health University, Toyoake, Japan.
Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan. .
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Źródło :
BMC medical genomics [BMC Med Genomics] 2019 Dec 05; Vol. 12 (1), pp. 182. Date of Electronic Publication: 2019 Dec 05.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Translocation, Genetic*
Chromosomes, Human, Pair 13/*genetics
Chromosomes, Human, X/*genetics
Intellectual Disability/*complications
Intellectual Disability/*genetics
Retinoblastoma/*complications
Retinoblastoma Binding Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Female ; Humans ; Infant ; Retinal Neoplasms/complications
Czasopismo naukowe
Tytuł :
Congenital microcoria in a Saudi family.
Autorzy :
Al-Owaid A; Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Alarfaj M; Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Al-Qahtani A; Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Al-Arfaj K; Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2019 Dec; Vol. 40 (6), pp. 578-580. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 13/*genetics
Iris/*abnormalities
Pupil Disorders/*congenital
Female ; Humans ; Iris/metabolism ; Iris/pathology ; Male ; Middle Aged ; Pedigree ; Prognosis ; Pupil Disorders/genetics ; Pupil Disorders/pathology ; Saudi Arabia
SCR Disease Name :
Microcoria, congenital
Raport
Tytuł :
Establishing and validating noninvasive prenatal testing procedure for fetal aneuploidies in Vietnam.
Autorzy :
Phan MD; Gene Solutions , Ho Chi Minh City , Vietnam.; School of Chemistry and Molecular Biosciences, the University of Queensland , Brisbane , Australia.
Nguyen TV; Hung Vuong Hospital , Ho Chi Minh City , Vietnam.
Trinh HNT; Tu Du Hospital , Ho Chi Minh City , Vietnam.
Vo BT; Center for Molecular Medicine, University of Medicine and Pharmacy , Ho Chi Minh City , Vietnam.; Graduate Program of Genetics, University of Science , Ho Chi Minh City , Vietnam.
Nguyen TM; Center for Molecular Medicine, University of Medicine and Pharmacy , Ho Chi Minh City , Vietnam.; Graduate Program of Genetics, University of Science , Ho Chi Minh City , Vietnam.
Nguyen NH; Gia Dinh Hospital , Ho Chi Minh City , Vietnam.
Nguyen TTQ; Hai Phong University of Medicine and Pharmacy , Hai Phong City , Vietnam.
Do TTT; Center for Molecular Medicine, University of Medicine and Pharmacy , Ho Chi Minh City , Vietnam.
Hoang TTD; Hung Vuong Hospital , Ho Chi Minh City , Vietnam.
Truong KD; Medical Genetics Institute , Ho Chi Minh City , Vietnam.
Giang H; Gene Solutions , Ho Chi Minh City , Vietnam.; Medical Genetics Institute , Ho Chi Minh City , Vietnam.
Nguyen HN; Center for Molecular Medicine, University of Medicine and Pharmacy , Ho Chi Minh City , Vietnam.
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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] 2019 Dec; Vol. 32 (23), pp. 4009-4015. Date of Electronic Publication: 2018 Jul 10.
Typ publikacji :
Journal Article; Validation Study
MeSH Terms :
Aneuploidy*
Cell-Free Nucleic Acids/*analysis
Noninvasive Prenatal Testing/*methods
Adult ; Algorithms ; Case-Control Studies ; Cell-Free Nucleic Acids/blood ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 18/genetics ; Chromosomes, Human, Pair 21/genetics ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Middle Aged ; Pregnancy ; Sequence Analysis, DNA/methods ; Trisomy/diagnosis ; Trisomy/genetics ; Vietnam ; Young Adult
Czasopismo naukowe
Tytuł :
Consistent Involvement of Chromosome 13 in Angiolipoma.
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.
Andersen K; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Lobmaier I; Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Bjerkehagen B; 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 :
Cancer genomics & proteomics [Cancer Genomics Proteomics] 2018 Jan-Feb; Vol. 15 (1), pp. 61-65.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Angiolipoma/*genetics
Adult ; Angiolipoma/pathology ; Female ; Humans ; Karyotype ; Male ; Middle Aged
Czasopismo naukowe

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