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Wyszukujesz frazę ""Chromosomes, Human, Pair 21"" wg kryterium: Temat


Tytuł:
Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.
Autorzy:
Semikhodskii A; Medical Genomics LLC, 48 Zhelyabov Str, Tver, 170100, Russian Federation. .
Makarova T; Medical Genomics LLC, 48 Zhelyabov Str, Tver, 170100, Russian Federation.
Sutyagina D; Medical Genomics LLC, 48 Zhelyabov Str, Tver, 170100, Russian Federation.
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Nov; Vol. 298 (6), pp. 1389-1394. Date of Electronic Publication: 2023 Sep 01.
Typ publikacji:
Journal Article
MeSH Terms:
Uniparental Disomy*/genetics
Chromosomes, Human, Pair 21*
Child ; Humans ; Paternity ; Microsatellite Repeats/genetics ; DNA
Czasopismo naukowe
Tytuł:
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Autorzy:
Fuchs F; CHU de Montpellier, Gynecology and Obstetrics, Montpellier, France.; Desbrest Institute of Epidemiology and Public Health (IDESP), University Montpellier, INSERM, Montpellier, France.
Rodriguez A; CHU de Montpellier, Gynecology and Obstetrics, Montpellier, France.
Mousty E; Centre Hospitalier Universitaire de Nîmes, Gynecology and Obstetrics Nimes, Nimes, France.
Morin D; CHU de Montpellier, Pediatric Nephrology, Montpellier, France.
Roubertie A; CHU de Montpellier, Pediatric Neurology, Montpellier, France.; Institute for Neurosciences of Montpellier, University Montpellier, INSERM, Montpellier, France.
Wells CF; Medical Genetics Department, CHU de Montpellier, Montpellier, France.
Prodhomme O; CHU de Montpellier, Radiologie Pédiatrique, Montpellier, France.
Benoist JF; Hôpital Necker-Enfants Malades, Biochimie Métabolomique et Protéomique, Paris, France.
Dreux S; Hôpital Universitaire Robert Debré, Laboratoire de Biochimie-Hormonologie, Paris, France.
Faure JM; CHU de Montpellier, Gynecology and Obstetrics, Montpellier, France.
Willems M; Institute for Neurosciences of Montpellier, University Montpellier, INSERM, Montpellier, France.; Medical Genetics Department, CHU de Montpellier, Montpellier, France.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2024 Jan; Vol. 44 (1), pp. 28-34. Date of Electronic Publication: 2023 Dec 06.
Typ publikacji:
Journal Article
MeSH Terms:
Cystinuria*/diagnosis
Cystinuria*/metabolism
Craniofacial Abnormalities*
Chromosome Deletion*
Muscle Hypotonia*
Intellectual Disability*
Mitochondrial Diseases*
Infant, Newborn ; Child ; Pregnancy ; Humans ; Female ; Retrospective Studies ; Prenatal Diagnosis ; Amniotic Fluid/metabolism ; Ultrasonography, Prenatal ; Chromosomes, Human, Pair 21
SCR Disease Name:
Hypotonia-Cystinuria Syndrome
Czasopismo naukowe
Tytuł:
The impact of an additional copy of chromosome 21 in B-cell precursor acute lymphoblastic leukemia.
Autorzy:
Hormann FM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Pediatric Oncology/Hematology, Erasmus Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands.
Mooij EJ; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
van de Mheen M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Beverloo HB; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
den Boer ML; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Pediatric Oncology/Hematology, Erasmus Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands.
Boer JM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
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Źródło:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Jan; Vol. 63 (1), pp. e23217. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Journal Article
MeSH Terms:
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Burkitt Lymphoma*
Humans ; Child ; Chromosomes, Human, Pair 21/genetics ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł:
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; 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] 2023 Nov; Vol. 62 (6), pp. 891-895.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Pregnancy ; Infant, Newborn ; Female ; Male ; Humans ; Child ; Adult ; Mosaicism ; Chromosomes, Human, Pair 21/genetics ; Comparative Genomic Hybridization ; In Situ Hybridization, Fluorescence ; Trisomy ; Karyotyping ; Cell Line ; Cytogenetic Analysis
SCR Disease Name:
Chromosome 21, uniparental disomy of
Raport
Tytuł:
A primary pediatric acute myelomonocytic leukemia with t(3;21)(q26;q22): A case report.
Autorzy:
Duan JX; Department of Laboratory Medicine, West China Second University Hospital, and Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan University, Chengdu, China.
Liu F
Chang L
Che GL
Yang QX
Teng J
Jian H
Liu XJ
Lai SY
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Źródło:
Medicine [Medicine (Baltimore)] 2023 Oct 27; Vol. 102 (43), pp. e35721.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Leukemia, Myelomonocytic, Acute*
Leukemia, Myeloid, Acute*/genetics
Hematopoietic Stem Cell Transplantation*/methods
Pneumonia*/genetics
Female ; Humans ; Child ; Child, Preschool ; Core Binding Factor Alpha 2 Subunit/genetics ; Translocation, Genetic ; Chromosomes, Human, Pair 21
Czasopismo naukowe
Tytuł:
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Autorzy:
Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Sukhanova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kuzina NY; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 24; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Case Reports
MeSH Terms:
Down Syndrome*/complications
Aniridia*/complications
Aniridia*/genetics
Female ; Humans ; Child ; PAX6 Transcription Factor/genetics ; Chromosomes, Human, Pair 21/genetics ; Trisomy ; Eye Proteins/genetics ; Homeodomain Proteins/genetics ; Pedigree ; Mutation
Raport
Tytuł:
Evolution of the search for a common mechanism of congenital risk of coronary heart disease and type 2 diabetes mellitus in the chromosomal locus 9p21.3.
Autorzy:
Benberin V; Centre of Gerontology, Medical Center Hospital of the President's Affairs Administration of the Republic of Kazakhstan, Astana, Kazakhstan.
Karabaeva R
Kulmyrzaeva N
Bigarinova R
Vochshenkova T
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Źródło:
Medicine [Medicine (Baltimore)] 2023 Oct 13; Vol. 102 (41), pp. e35074.
Typ publikacji:
Journal Article
MeSH Terms:
Diabetes Mellitus, Type 2*/epidemiology
Diabetes Mellitus, Type 2*/genetics
Diabetes Mellitus, Type 2*/complications
Coronary Disease*/epidemiology
Coronary Disease*/genetics
Coronary Disease*/complications
Humans ; Risk Factors ; Chromosomes, Human, Pair 9/genetics ; Chromosomes, Human, Pair 21
Czasopismo naukowe
Tytuł:
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.
Autorzy:
Rozen EJ; Crnic Institute Boulder Branch, BioFrontiers Institute, University of Colorado Boulder, 3415 Colorado Ave., Boulder, CO, 80303, USA. .; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, 12700 East 19th Avenue, Aurora, CO, 80045, USA. .
Ozeroff CD; Crnic Institute Boulder Branch, BioFrontiers Institute, University of Colorado Boulder, 3415 Colorado Ave., Boulder, CO, 80303, USA.; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, 12700 East 19th Avenue, Aurora, CO, 80045, USA.; Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder, 1945 Colorado Ave., Boulder, CO, 80309, USA.
Allen MA; Crnic Institute Boulder Branch, BioFrontiers Institute, University of Colorado Boulder, 3415 Colorado Ave., Boulder, CO, 80303, USA. .; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, 12700 East 19th Avenue, Aurora, CO, 80045, USA. .
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Źródło:
Human genomics [Hum Genomics] 2023 Sep 05; Vol. 17 (1), pp. 83. Date of Electronic Publication: 2023 Sep 05.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Down Syndrome*
Female ; Humans ; Core Binding Factor Alpha 2 Subunit ; Hematopoiesis ; Chromosomes, Human, Pair 21 ; Carcinogenesis
Czasopismo naukowe
Tytuł:
Non-invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an "in-house" target enrichment next generation sequencing-Solution for non-centralized NIPT laboratory?
Autorzy:
Faldynová L; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Walczysková S; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Černá D; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Kudrejová M; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Hilscherová Š; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Kaniová R; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Širůčková S; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1320-1332. Date of Electronic Publication: 2023 Aug 21.
Typ publikacji:
Journal Article
MeSH Terms:
Laboratories*
Cell-Free Nucleic Acids*
Pregnancy ; Humans ; Female ; High-Throughput Nucleotide Sequencing ; DNA Copy Number Variations ; Chromosomes, Human, Pair 21
Czasopismo naukowe
Tytuł:
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.
Autorzy:
Yoshida-Tanaka K; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan.
Ikemoto K; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan.
Kuribayashi R; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan.
Unoki M; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan.
Takano T; Department of Child Health, Tokyo Kasei University, 1-18-1 Kaga, Itabashi-Ku, Tokyo, 173-8602, Japan. .; Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan. .
Fujimoto A; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan. .
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Źródło:
Human genetics [Hum Genet] 2023 Sep; Vol. 142 (9), pp. 1375-1384. Date of Electronic Publication: 2023 Jul 11.
Typ publikacji:
Journal Article
MeSH Terms:
Centromere*/genetics
Epigenesis, Genetic*
Humans ; Female ; Chromosomes, Human, Pair 21/genetics
Czasopismo naukowe
Tytuł:
A rare case of acute megakaryoblastic leukaemia with constitutional ring chromosome 21.
Autorzy:
De John KO; Division of Haematology, Department of Pathology, University of Cape Town and National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.
De Quintal H; Haematology Oncology Service Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Mathibe MD; Haematology Oncology Service Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Albertus N; Division of Human Genetics, Department of Pathology, National Health Laboratory Service, Groote Schuur Hospital, Observatory, South Africa.
Opie JJ; Division of Haematology, Department of Pathology, University of Cape Town and National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.
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Źródło:
British journal of haematology [Br J Haematol] 2023 Sep; Vol. 202 (5), pp. 912. Date of Electronic Publication: 2023 Jun 06.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Leukemia, Megakaryoblastic, Acute*/diagnosis
Leukemia, Megakaryoblastic, Acute*/genetics
Ring Chromosomes*
Humans ; Chromosome Aberrations ; Bone Marrow ; Chromosomes, Human, Pair 21/genetics
Czasopismo naukowe
Tytuł:
A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features.
Autorzy:
Kazuki Y; Division of Genome and Cellular Functions, Department of Molecular and Cellular Biology, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan. Electronic address: .
Gao FJ; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Yamakawa M; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan.
Hirabayashi M; Center for Genetic Analysis of Behavior, National Institute for Physiological Sciences, Okazaki, Aichi 444-8787, Japan.
Kazuki K; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan.
Kajitani N; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan.
Miyagawa-Tomita S; Department of Animal Nursing Science, Yamazaki University of Animal Health Technology, Hachioji, Tokyo 192-0364, Japan; Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-0033, Japan.
Abe S; Trans Chromosomics, Inc., 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Sanbo M; Center for Genetic Analysis of Behavior, National Institute for Physiological Sciences, Okazaki, Aichi 444-8787, Japan.
Hara H; Center for Genetic Analysis of Behavior, National Institute for Physiological Sciences, Okazaki, Aichi 444-8787, Japan.
Kuniishi H; Division of Neuroscience, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Ichisaka S; Division of Neuroscience, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Hata Y; Division of Neuroscience, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Koshima M; Division of Genome and Cellular Functions, Department of Molecular and Cellular Biology, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Takayama H; Trans Chromosomics, Inc., 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Takehara S; Trans Chromosomics, Inc., 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Nakayama Y; Division of Radioisotope Science, Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Hiratsuka M; Division of Genome and Cellular Functions, Department of Molecular and Cellular Biology, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Iida Y; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan.
Matsukura S; Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki 305-8566, Japan.
Noda N; Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki 305-8566, Japan.
Li Y; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Moyer AJ; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Cheng B; Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Singh N; Department of Anthropology, California State University, Sacramento, CA 95819, USA.
Richtsmeier JT; Department of Anthropology, Penn State University, State College, PA 16802, USA.
Oshimura M; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan; Trans Chromosomics, Inc., 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Reeves RH; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: .
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Źródło:
American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 328-344. Date of Electronic Publication: 2022 Jan 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 21*
Founder Effect*
Anxiety/*genetics
Down Syndrome/*genetics
Hyperkinesis/*genetics
Animals ; Anxiety/metabolism ; Anxiety/pathology ; Cerebellum/metabolism ; Cerebellum/pathology ; Disease Models, Animal ; Down Syndrome/metabolism ; Down Syndrome/pathology ; Female ; Genes, Reporter ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Humans ; Hyperkinesis/metabolism ; Hyperkinesis/pathology ; Karyotype ; Learning ; Male ; Mutagenesis, Insertional ; Organ Size ; Posture ; Prosencephalon/metabolism ; Prosencephalon/pathology ; Rats ; Rats, Transgenic
Czasopismo naukowe
Tytuł:
Understanding etiology of chromosome 21 nondisjunction from gene × environment models.
Autorzy:
Halder P; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Pal U; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Ganguly A; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Ghosh P; Department of Zoology, Bijoy Krishna Girls' College (Affiliated to University of Calcutta), Howrah, West Bengal, India.
Ray A; Department of Zoology, Bangabasi Morning College (Affiliated to University of Calcutta), Kolkata, West Bengal, India.
Sarkar S; Department of Paediatric Medicine, Diamond Harbour Government Medical College and Hospital, Diamond Harbour, West Bengal, India.
Ghosh S; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India. .
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Źródło:
Scientific reports [Sci Rep] 2021 Nov 17; Vol. 11 (1), pp. 22390. Date of Electronic Publication: 2021 Nov 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 21*
Disease Susceptibility*
Gene-Environment Interaction*
Nondisjunction, Genetic*
Down Syndrome/*epidemiology
Down Syndrome/*etiology
Case-Control Studies ; Down Syndrome/diagnosis ; Female ; Gene Frequency ; Genotype ; Humans ; Maternal Exposure/adverse effects ; Models, Biological ; Population Surveillance ; Pregnancy ; Recombination, Genetic ; Risk Factors
Czasopismo naukowe
Tytuł:
Immunophenotypic challenges in diagnosis of CD79a negativity in a patient with B acute lymphoblastic leukemia harboring intrachromosomal amplification of chromosome 21: a case report.
Autorzy:
Berhili A; Hematology Laboratory, Mohammed VI University Hospital, Oujda Universite, BP 4806, 60049, Oujda, Morocco. .; Genetics Unit, Faculty of Medicine and Pharmacy, Mohammed Premier University, Oujda, Morocco. .
Bensalah M; Hematology Laboratory, Mohammed VI University Hospital, Oujda Universite, BP 4806, 60049, Oujda, Morocco.
ElMalki J; Hematology Laboratory, Mohammed VI University Hospital, Oujda Universite, BP 4806, 60049, Oujda, Morocco.
Elyagoubi A; Hematology Laboratory, Mohammed VI University Hospital, Oujda Universite, BP 4806, 60049, Oujda, Morocco.
Seddik R; Hematology Laboratory, Mohammed VI University Hospital, Oujda Universite, BP 4806, 60049, Oujda, Morocco.; Genetics Unit, Faculty of Medicine and Pharmacy, Mohammed Premier University, Oujda, Morocco.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2021 Oct 28; Vol. 15 (1), pp. 531. Date of Electronic Publication: 2021 Oct 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 21*
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics
CD79 Antigens/genetics ; Child ; Flow Cytometry ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Male
Czasopismo naukowe
Tytuł:
Salmon-coloured granules in residual acute myeloid leukaemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1.
Autorzy:
Chen D; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Chen W; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
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Źródło:
British journal of haematology [Br J Haematol] 2021 May; Vol. 193 (4), pp. 691. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 21*/genetics
Chromosomes, Human, Pair 21*/metabolism
Chromosomes, Human, Pair 8*/genetics
Chromosomes, Human, Pair 8*/metabolism
Core Binding Factor Alpha 2 Subunit*/genetics
Core Binding Factor Alpha 2 Subunit*/metabolism
Cytoplasmic Granules*/genetics
Cytoplasmic Granules*/metabolism
Cytoplasmic Granules*/pathology
Leukemia, Myeloid, Acute*/genetics
Leukemia, Myeloid, Acute*/metabolism
Leukemia, Myeloid, Acute*/pathology
Oncogene Proteins, Fusion*/genetics
Oncogene Proteins, Fusion*/metabolism
RUNX1 Translocation Partner 1 Protein*/genetics
RUNX1 Translocation Partner 1 Protein*/metabolism
Translocation, Genetic*
Adult ; Female ; Humans
Czasopismo naukowe
Tytuł:
Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions.
Autorzy:
Li Y; The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.
Xing Z; The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.
Yu T; The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.
Pao A; The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.
Daadi M; Regenerative Medicine and Aging Unit, Texas Biomedical Research Institute, Long School of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245, USA.
Yu YE; The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.; Genetics, Genomics and Bioinformatics Program, State University of New York at Buffalo, Buffalo, NY 14203, USA.
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Źródło:
Genes [Genes (Basel)] 2021 Aug 06; Vol. 12 (8). Date of Electronic Publication: 2021 Aug 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Chromosomes, Human, Pair 21*
Down Syndrome/*genetics
Hair Color/*genetics
Animals ; Disease Models, Animal ; Female ; Humans ; Male ; Mice ; Mice, Mutant Strains
Czasopismo naukowe
Tytuł:
Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations.
Autorzy:
Lundin-Ström KB; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Biloglav A; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Castor A; Department of Paediatrics, Skåne University Hospital, Lund, Sweden.
Olsson-Arvidsson L; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology, and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
Johansson B; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology, and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
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Źródło:
British journal of haematology [Br J Haematol] 2023 May; Vol. 201 (3), pp. 585-588. Date of Electronic Publication: 2023 Mar 10.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Uniparental Disomy*/genetics
Child ; Humans ; Chromosomes, Human, Pair 12/genetics ; Chromosomes, Human, Pair 21
Raport
Tytuł:
Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome.
Autorzy:
Moyer AJ; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Fernandez FX; Department of Psychology, University of Arizona, Tucson, AZ 85724, USA.; Department of Neurology, University of Arizona, Tucson, AZ 85724, USA.; BIO5 and McKnight Brain Research Institutes, Tucson, AZ 85721, USA.
Li Y; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Klinedinst DK; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Florea LD; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Kazuki Y; Division of Genome and Cellular Functions, Department of Molecular and Cellular Biology, School of Life Science, Faculty of Medicine and Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Oshimura M; Chromosome Engineering Research Center, Tottori University, Yonago, Tottori 683-8503, Japan.; Trans Chromosomics, Inc., 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Reeves RH; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
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Źródło:
Disease models & mechanisms [Dis Model Mech] 2023 Apr 01; Vol. 16 (4). Date of Electronic Publication: 2023 Apr 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/genetics
HMGN1 Protein*/genetics
HMGN1 Protein*/metabolism
Mice ; Humans ; Animals ; Hedgehog Proteins/metabolism ; Chromosomes, Human, Pair 21/genetics ; Signal Transduction
Czasopismo naukowe
Tytuł:
Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice.
Autorzy:
Sloan K; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Thomas J; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Blackwell M; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Voisard D; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Lana-Elola E; The Francis Crick Institute, London NW1 1AT, UK.
Watson-Scales S; The Francis Crick Institute, London NW1 1AT, UK.
Roper DL; Data Analytics Computing, Lehi, UT 84043, USA.
Wallace JM; Department of Biomedical Engineering, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Fisher EMC; UCL Institute of Neurology, London WC1N 3BG, UK.
Tybulewicz VLJ; The Francis Crick Institute, London NW1 1AT, UK.
Roper RJ; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
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Źródło:
Disease models & mechanisms [Dis Model Mech] 2023 Apr 01; Vol. 16 (4). Date of Electronic Publication: 2023 Apr 26.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/genetics
Humans ; Mice ; Male ; Female ; Animals ; Chromosomes, Human, Pair 21 ; Disease Models, Animal ; Phenotype
Czasopismo naukowe
Tytuł:
The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.
Autorzy:
Pal U; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath Palit Siksha Prangan (Ballygunge Science College Campus), Kolkata, West Bengal, India.
Halder P; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath Palit Siksha Prangan (Ballygunge Science College Campus), Kolkata, West Bengal, India.
Ray A; Department of Zoology, Bangabasi Morning College (affiliated to University of Calcutta), Kolkata, West Bengal, India.
Sarkar S; Department of Paediatric Medicine, Institute of Post Graduate Medical Education and Research (IPGMER), Bhowanipore, Kolkata, West Bengal, India.; Department of Paediatric Medicine, Diamond Harbour Government Medical College & Hospital, Diamond Harbour, West Bengal, India.
Datta S; Department of Paediatric Medicine, Institute of Post Graduate Medical Education and Research (IPGMER), Bhowanipore, Kolkata, West Bengal, India.
Ghosh P; Department of Zoology, Bijoykrishna Girls' College (Affiliated to University of Calcutta), Howrah, West Bengal, India.
Ghosh S; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath Palit Siksha Prangan (Ballygunge Science College Campus), Kolkata, West Bengal, India.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Mar 22; Vol. 17 (3), pp. e1009462. Date of Electronic Publication: 2021 Mar 22 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 21*
Nondisjunction, Genetic*
Polymorphism, Single Nucleotide*
Recombination, Genetic*
Down Syndrome/*diagnosis
Down Syndrome/*genetics
Minichromosome Maintenance Proteins/*genetics
Alleles ; Case-Control Studies ; Down Syndrome/epidemiology ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Inheritance Patterns ; Linkage Disequilibrium ; Odds Ratio ; Oocytes ; Population Surveillance ; Risk Assessment ; Risk Factors
Czasopismo naukowe

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