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Tytuł:
Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.
Autorzy:
Xin X; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Xu P; Department of perinatal laboratory, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, P.R. China.
Wang N; Department of perinatal laboratory, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, P.R. China.
Jiang Y; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Zhang J; Department of Andrology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, P.R. China.
Li S; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Zhu Y; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Zhang C; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Zhang L; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China.
Huang H; Department of Rehabilitation Medicine, Zhongnan Hospital of Wuhan University, Wuhan, 430071, Hubei, P.R. China.
Feng L; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China. .
Wang S; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Road, Wuhan, 430030, Hubei, P.R. China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Sep 08; Vol. 16 (1), pp. 213. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Azoospermia*/genetics
Oligospermia*/genetics
Male ; Humans ; DNA Copy Number Variations ; Karyotyping ; Abnormal Karyotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Additional diagnostic value of CNV-seq over conventional karyotyping in prenatal diagnosis: A systematic review and meta-analysis.
Autorzy:
Luo H; Clinical Medical College, Yangzhou University, Yangzhou, China.
Wang Q; Clinical Medical College, Yangzhou University, Yangzhou, China.
Fu D; Clinical Medical College, Yangzhou University, Yangzhou, China.
Gao J; Clinical Medical College, Yangzhou University, Yangzhou, China.
Lu D; Clinical Medical College, Yangzhou University, Yangzhou, China.
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Źródło:
The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2023 Jul; Vol. 49 (7), pp. 1641-1650. Date of Electronic Publication: 2023 Apr 10.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
Chromosome Aberrations*
Chromosome Disorders*/diagnosis
Pregnancy ; Female ; Humans ; Karyotyping ; Prenatal Diagnosis ; Pregnancy, High-Risk ; DNA Copy Number Variations
Czasopismo naukowe
Szczegóły
Tytuł:
Chromosomal Rearrangements and Satellite DNAs: Extensive Chromosome Reshuffling and the Evolution of Neo-Sex Chromosomes in the Genus Pyrrhulina (Teleostei; Characiformes).
Autorzy:
de Moraes RLR; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos 13565-905, SP, Brazil.; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
de Menezes Cavalcante Sassi F; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos 13565-905, SP, Brazil.; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
Vidal JAD; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos 13565-905, SP, Brazil.
Goes CAG; Faculdade de Ciências, UNESP, Bauru 17033-36, SP, Brazil.
Dos Santos RZ; Faculdade de Ciências, UNESP, Bauru 17033-36, SP, Brazil.
Stornioli JHF; Institute of Biological Sciences and Health, Universidade Federal Rural do Rio de Janeiro, Seropédica 23890-000, RJ, Brazil.
Porto-Foresti F; Faculdade de Ciências, UNESP, Bauru 17033-36, SP, Brazil.
Liehr T; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
Utsunomia R; Faculdade de Ciências, UNESP, Bauru 17033-36, SP, Brazil.
de Bello Cioffi M; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos 13565-905, SP, Brazil.; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 04; Vol. 24 (17). Date of Electronic Publication: 2023 Sep 04.
Typ publikacji:
Journal Article
MeSH Terms:
Characiformes*
Animals ; DNA, Satellite/genetics ; Sex Chromosomes/genetics ; Chromosome Aberrations ; Karyotyping
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues.
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.
Lee CC; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Pan CW; 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 Sep; Vol. 62 (5), pp. 749-753.
Typ publikacji:
Case Reports
MeSH Terms:
Mosaicism*
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Male ; Female ; Pregnancy ; Humans ; Comparative Genomic Hybridization ; Amniocentesis ; In Situ Hybridization, Fluorescence ; Fetus ; Karyotyping ; Cell Line ; Genitalia
Raport
Szczegóły
Tytuł:
Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C).
Autorzy:
Stewart R; Regenerative Medicine Institute, School of Medicine, University of Galway, Ireland; Department of Paediatrics, School of Medicine, University of Galway, Ireland. Electronic address: .
Gadoud C; Regenerative Medicine Institute, School of Medicine, University of Galway, Ireland.
Krawczyk J; Department of Haematology, Galway University Hospital, Ireland.
McInerney V; HRB Clinical Research Facility, University of Galway, Ireland.
O'Brien T; Regenerative Medicine Institute, School of Medicine, University of Galway, Ireland; Confucius Institute of Chinese and Regenerative Medicine, University of Galway, Ireland.
Shen S; Regenerative Medicine Institute, School of Medicine, University of Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland; Confucius Institute of Chinese and Regenerative Medicine, University of Galway, Ireland. Electronic address: .
Allen NM; Department of Paediatrics, School of Medicine, University of Galway, Ireland. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103191. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Induced Pluripotent Stem Cells*
Brain Diseases*
Male ; Humans ; Child, Preschool ; Germ Layers ; Heterozygote ; Karyotyping ; KCNQ2 Potassium Channel/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Monochorionic twins with discordant trisomy 21, another case to remind this uncommon condition and how to deal with.
Autorzy:
Labadini C; Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE(2), 6 Rue Rocca, 13008 Marseille, France; Unité de dépistage et de diagnostic prénatal, Hôpital Saint-Joseph, 26, boulevard de Louvain, 13285 Marseille cedex, France; Department of Medicine and Surgery, Obstetrics and Gynecology Unit, University of Parma, Parma, Italy.
Lohmann L; Laboratoire CERBA, Saint-Ouen-l'Aumône, France.
Ville Y; Department of Obstetrics and Fetal Medicine, APHP Necker-Enfants Malades University Hospital, 75015 Paris, France.
Quarello E; Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE(2), 6 Rue Rocca, 13008 Marseille, France; Unité de dépistage et de diagnostic prénatal, Hôpital Saint-Joseph, 26, boulevard de Louvain, 13285 Marseille cedex, France. Electronic address: .
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Źródło:
Journal of gynecology obstetrics and human reproduction [J Gynecol Obstet Hum Reprod] 2023 Sep; Vol. 52 (7), pp. 102620. Date of Electronic Publication: 2023 Jun 08.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Down Syndrome*/diagnosis
Female ; Humans ; Pregnancy ; Karyotyping ; Placenta ; Prenatal Diagnosis/methods ; Twins, Monozygotic
Czasopismo naukowe
Szczegóły
Tytuł:
Three induced pluripotent stem cell lines (TRNDi033-A, TRNDi034-A, TRNDi035-A) generated from lymphoblasts of three apparently healthy individuals.
Autorzy:
Owusu-Ansah K; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Pavlinov I; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Xu M; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Beers J; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Chen C; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Zheng W; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: .
Zou J; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
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Źródło:
Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103135. Date of Electronic Publication: 2023 Jun 08.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Induced Pluripotent Stem Cells*/metabolism
Female ; Infant, Newborn ; Humans ; Male ; Aged ; Child ; Cell Differentiation ; Kruppel-Like Factor 4 ; Lymphocytes ; Karyotyping ; Cellular Reprogramming
Czasopismo naukowe
Szczegóły
Tytuł:
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.
Autorzy:
Tian W; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.
Yuan Y; Department of Medical Research Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, 450052, China.
Yuan E; Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, 450052, China.
Zhang L; Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, 450052, China.
Liu L; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.; Perinatal Disease and Prevention of Birth Defects, Advanced Medical Center, Zhengzhou University, Zhengzhou, 450052, China.; Henan Provincial Clinical Research Center for Perinatal Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Li Y; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.
Guo J; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.
Cui X; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.
Li P; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China.
Cui S; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052, China. .; Perinatal Disease and Prevention of Birth Defects, Advanced Medical Center, Zhengzhou University, Zhengzhou, 450052, China. .; Henan Provincial Clinical Research Center for Perinatal Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. .
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Źródło:
European journal of medical research [Eur J Med Res] 2023 Aug 30; Vol. 28 (1), pp. 304. Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*/genetics
Placenta*
Female ; Humans ; Pregnancy ; Aneuploidy ; Karyotyping ; Chromosomes
Czasopismo naukowe
Szczegóły
Tytuł:
Modeling specific aneuploidies: from karyotype manipulations to biological insights.
Autorzy:
Truong MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584, CG, Utrecht, The Netherlands.
Cané-Gasull P; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584, CG, Utrecht, The Netherlands.
Lens SMA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584, CG, Utrecht, The Netherlands. .
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Źródło:
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2023 Aug 29; Vol. 31 (3), pp. 25. Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Aneuploidy*
Chromosome Aberrations*
Humans ; Animals ; Mice ; Karyotyping ; Karyotype ; Mammals
Czasopismo naukowe
Szczegóły
Tytuł:
Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge.
Autorzy:
Mohebnasab M; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA.; Division of Molecular Genomic Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA.; Department of Molecular and Medical Genetics and Knight Diagnostics Laboratory, Oregon Health and Science University, Portland, OR 97239, USA.
Li P; Division of Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT 84112, USA.
Hong B; Division of Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT 84112, USA.
Dunlap J; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA.
Traer E; Department of Molecular and Medical Genetics and Knight Diagnostics Laboratory, Oregon Health and Science University, Portland, OR 97239, USA.; Division of Hematology and Medical Oncology, Oregon Health and Science University, Portland, OR 97239, USA.
Fan G; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA.
Press RD; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA.; Department of Molecular and Medical Genetics and Knight Diagnostics Laboratory, Oregon Health and Science University, Portland, OR 97239, USA.
Moore SR; Department of Molecular and Medical Genetics and Knight Diagnostics Laboratory, Oregon Health and Science University, Portland, OR 97239, USA.
Xie W; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 22; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 22.
Typ publikacji:
Case Reports
MeSH Terms:
Leukemia, Promyelocytic, Acute*/diagnosis
Leukemia, Promyelocytic, Acute*/genetics
Humans ; Karyotyping
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy.
Autorzy:
Samango-Sprouse CA; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, FL, USA.; Department of Pediatrics, George Washington University, Washington, DC, USA.
Grati FR; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Brooks M; Department of Research, The Focus Foundation, Davidsonville, MD, USA.
Hamzik MP; Department of Research, The Focus Foundation, Davidsonville, MD, USA.
Khaksari K; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA.
Gropman A; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA.
Taylor A; Department of Research, The Focus Foundation, Davidsonville, MD, USA.
Malvestiti F; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Grimi B; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Liuti R; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Milani S; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Chinetti S; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Trotta A; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Agrati C; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Repetti E; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.
Martin KA; Department of Research, The Focus Foundation, Davidsonville, MD, USA.
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Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2023 Aug; Vol. 62 (2), pp. 266-272.
Typ publikacji:
Journal Article
MeSH Terms:
Aneuploidy*
Cell-Free Nucleic Acids*/genetics
Humans ; Female ; Pregnancy ; Incidence ; Longitudinal Studies ; Italy/epidemiology ; Prenatal Diagnosis/methods ; Sex Chromosome Aberrations ; Trisomy ; Karyotyping ; Amniocentesis ; Chromosome Disorders/epidemiology ; Chromosome Disorders/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer.
Autorzy:
Wang J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
Zheng J; School of Public Health, Brown University, Providence, Rhode Island, USA.
Lee EE; Institute for Systems Biology, Seattle, Washington, USA.
Aguilar B; Institute for Systems Biology, Seattle, Washington, USA.
Phan J; General Dynamics Information Technology, Rockville, Maryland, USA.
Abdilleh K; Pancreatic Cancer Action Network, Manhattan Beach, California, USA.
Taylor RC; Division of Cancer Treatment and Diagnosis, National Cancer Institute, Rockville, Maryland, USA.
Longabaugh W; Institute for Systems Biology, Seattle, Washington, USA.
Johansson B; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Mertens F; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Mitelman F; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Pot D; General Dynamics Information Technology, Rockville, Maryland, USA.
LaFramboise T; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
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Źródło:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2023 Aug; Vol. 62 (8), pp. 441-448. Date of Electronic Publication: 2023 Feb 13.
Typ publikacji:
Journal Article
MeSH Terms:
Cloud Computing*
Neoplasms*/genetics
Humans ; Chromosome Aberrations ; Karyotyping ; Gene Fusion
Czasopismo naukowe
Szczegóły
Tytuł:
Identifying discrepancies between clinical practice and evidence-based guideline in recurrent pregnancy loss care, a tool for clinical guideline implementation.
Autorzy:
Youssef A; Leiden University Medical Centre, Albinusdreef 2, Leiden, 2333 ZA, the Netherlands. .
Lashley EELO; Leiden University Medical Centre, Albinusdreef 2, Leiden, 2333 ZA, the Netherlands.
Vermeulen N; European Society of Human Reproduction and Embryology, Nijverheidslaan 3 (BXL 7 - Gebouw 1), Strombeek, Bever, B - 1853, Belgium.
van der Hoorn MLP; Leiden University Medical Centre, Albinusdreef 2, Leiden, 2333 ZA, the Netherlands.
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Jul 28; Vol. 23 (1), pp. 544. Date of Electronic Publication: 2023 Jul 28.
Typ publikacji:
Journal Article
MeSH Terms:
Medical Tourism*
Abortion, Habitual*/therapy
Abortion, Habitual*/etiology
Gynecology*
Thrombophilia*
Pregnancy ; Female ; Humans ; Karyotyping
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multiple Chromosome Fissions, Including That of the X Chromosome, in Aulacocyclus tricuspis Kaup (Coleoptera, Passalidae) from New Caledonia: Characterization of a Rare but Recurrent Pathway of Chromosome Evolution in Animals.
Autorzy:
Dutrillaux B; Institut de Systématique, Evolution, Biodiversité (ISYEB), Muséum National d'Histoire Naturelle, CNRS, Sorbonne Université, EPHE, Université des Antilles, 57 Rue Cuvier, CP 50 Entomologie, CEDEX 05, 75231 Paris, France.
Dutrillaux AM; Institut de Systématique, Evolution, Biodiversité (ISYEB), Muséum National d'Histoire Naturelle, CNRS, Sorbonne Université, EPHE, Université des Antilles, 57 Rue Cuvier, CP 50 Entomologie, CEDEX 05, 75231 Paris, France.
Salazar K; Institut de Systématique, Evolution, Biodiversité (ISYEB), Muséum National d'Histoire Naturelle, CNRS, Sorbonne Université, EPHE, Université des Antilles, 57 Rue Cuvier, CP 50 Entomologie, CEDEX 05, 75231 Paris, France.
Boucher S; Muséum National d'Histoire Naturelle, MECADEV UMR 7179 MNHN/CNRS, CP 50 Entomologie, CEDEX 05, 75231 Paris, France.
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Źródło:
Genes [Genes (Basel)] 2023 Jul 21; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Heterochromatin*
Coleoptera*/genetics
Animals ; Male ; New Caledonia ; X Chromosome/genetics ; Karyotyping
Czasopismo naukowe
Szczegóły
Tytuł:
Chromosomal Evolution of the Talpinae.
Autorzy:
Biltueva LS; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Vorobieva NV; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Lemskya NA; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Perelman PL; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Trifonov VA; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Panov VV; Institute of Systematics and Ecology of Animals SB RAS, Frunze st.11, 630091 Novosibirsk, Russia.
Abramov AV; Zoological Institute RAS, 199034 Saint Petersburg, Russia.; Joint Vietnamese-Russian Tropical Research and Technological Centre, Nguyen Van Huyen, Nghia Do, Cau Giay, Hanoi 650000, Vietnam.
Kawada SI; Department of Zoology, National Museum of Nature and Science, 4-1-1, Amakubo, Tsukuba 305-0005, Ibaraki, Japan.
Serdukova NA; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
Graphodatsky AS; Institute of Molecular and Cellular Biology SB RAS, Lavrentiev Ave., 8/2, 630090 Novosibirsk, Russia.
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Źródło:
Genes [Genes (Basel)] 2023 Jul 19; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Moles*/genetics
Animals ; Karyotyping ; Cytogenetics ; Karyotype ; Shrews/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Karyotype and Phylogenetic Relationship Analysis of Five Varieties and Cultivars of Zanthoxylum armatum Based on Oligo-FISH.
Autorzy:
He Z; College of Forestry, Sichuan Agricultural University, Chengdu 611130, China.
Lei Y; College of Forestry, Sichuan Agricultural University, Chengdu 611130, China.
Gong W; College of Forestry, Sichuan Agricultural University, Chengdu 611130, China.
Ye M; College of Forestry, Sichuan Agricultural University, Chengdu 611130, China.
Luo X; National Forestry and Grassland Administration Key Laboratory of Forest Resources Conservation and Ecological Safety on the Upper Reaches of the Yangtze River & Forestry Ecological Engineering in the Upper Reaches of the Yangtze River Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu 611130, China.
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Źródło:
Genes [Genes (Basel)] 2023 Jul 17; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Zanthoxylum*/genetics
Phylogeny ; Karyotype ; Karyotyping ; DNA, Ribosomal/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Mathematical Modeling of Clonal Interference by Density-Dependent Selection in Heterogeneous Cancer Cell Lines.
Autorzy:
Veith T; Moffitt Cancer Center, Integrated Mathematical Oncology, USF Magnolia Drive, Tampa, FL 33612, USA.; Department of Cell Biology, Microbiology, and Molecular Biology, University of South Florida, 4202 E Fowler Ave, Tampa, FL 33612, USA.
Schultz A; Moffitt Cancer Center, Integrated Mathematical Oncology, USF Magnolia Drive, Tampa, FL 33612, USA.
Alahmari S; Department of Computer Science, Najran University, King Abdulaziz Road, Najran 61441, Saudi Arabia.
Beck R; Moffitt Cancer Center, Integrated Mathematical Oncology, USF Magnolia Drive, Tampa, FL 33612, USA.
Johnson J; Moffitt Cancer Center, Analytic Microscopy Core, USF Magnolia Drive, Tampa, FL 33612, USA.
Andor N; Moffitt Cancer Center, Integrated Mathematical Oncology, USF Magnolia Drive, Tampa, FL 33612, USA.; Department of Cell Biology, Microbiology, and Molecular Biology, University of South Florida, 4202 E Fowler Ave, Tampa, FL 33612, USA.
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Źródło:
Cells [Cells] 2023 Jul 14; Vol. 12 (14). Date of Electronic Publication: 2023 Jul 14.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Neoplasms*/genetics
Humans ; Cell Line ; Karyotyping ; Clone Cells ; Karyotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cytogenetic screening of a Canadian swine breeding nucleus using a newly developed karyotyping method named oligo-banding.
Autorzy:
Poisson W; Département des sciences animales, Faculté des sciences de l'agriculture et de l'alimentation, Université Laval, Québec, QC, Canada.; Centre de recherche en reproduction, développement et santé intergénérationnelle, Québec, QC, Canada.
Bastien A; Plateforme d'imagerie et microscopie, Institut de biologie intégrative et des systèmes, Université Laval, Québec, QC, Canada.
Gilbert I; Département des sciences animales, Faculté des sciences de l'agriculture et de l'alimentation, Université Laval, Québec, QC, Canada.; Centre de recherche en reproduction, développement et santé intergénérationnelle, Québec, QC, Canada.
Carrier A; Département des sciences animales, Faculté des sciences de l'agriculture et de l'alimentation, Université Laval, Québec, QC, Canada.; Centre de recherche en reproduction, développement et santé intergénérationnelle, Québec, QC, Canada.
Prunier J; Département de médecine moléculaire, Faculté de médecine, Université Laval, Québec, QC, Canada.
Robert C; Département des sciences animales, Faculté des sciences de l'agriculture et de l'alimentation, Université Laval, Québec, QC, Canada. .; Centre de recherche en reproduction, développement et santé intergénérationnelle, Québec, QC, Canada. .
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Źródło:
Genetics, selection, evolution : GSE [Genet Sel Evol] 2023 Jul 10; Vol. 55 (1), pp. 47. Date of Electronic Publication: 2023 Jul 10.
Typ publikacji:
Journal Article
MeSH Terms:
Fertility*
Genomics*
Animals ; Male ; Swine/genetics ; Canada ; Karyotyping ; Livestock
Czasopismo naukowe
Szczegóły
Tytuł:
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid 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_.
Hsu TY; Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; 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 Jul; Vol. 62 (4), pp. 582-585.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Pregnancy ; Female ; Humans ; Mosaicism ; In Situ Hybridization, Fluorescence ; Comparative Genomic Hybridization ; Trisomy/diagnosis ; Trisomy/genetics ; Karyotyping ; Cytogenetic Analysis
SCR Disease Name:
Chromosome 21, uniparental disomy of
Raport
Szczegóły
Tytuł:
Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues 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.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chiu CL; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; 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 Jul; Vol. 62 (4), pp. 606-610.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Uniparental Disomy*/diagnosis
Uniparental Disomy*/genetics
Pregnancy ; Female ; Male ; Humans ; Comparative Genomic Hybridization ; In Situ Hybridization, Fluorescence ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Trisomy/diagnosis ; Trisomy/genetics ; Prenatal Diagnosis ; Karyotyping ; Karyotype ; Mosaicism
Raport
Szczegóły
Wyświetlanie 1-20 z 24628

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