Výsledky vyhľadávania - "Hematologic Diseases genetics"

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Autori: Veronika Vaclavik Aurelie Navarro Alain Jacot-Guillarmod a ďalší

Zdroj: Graefes Arch Clin Exp Ophthalmol
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, vol. 262, no. 6, pp. 1737-1744

Predmety: Male, Fundus Oculi, Visual Acuity, DNA, Hematologic Diseases, Multimodal Imaging, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, Macular Degeneration, Phenotype, Vestibular Diseases, Face, Electroretinography, Retinal Disorders, Humans, Abnormalities, Multiple, Female, Fluorescein Angiography, Vestibular Diseases/genetics, Vestibular Diseases/diagnosis, Vestibular Diseases/physiopathology, Face/abnormalities, Hematologic Diseases/genetics, Hematologic Diseases/diagnosis, Hematologic Diseases/physiopathology, Tomography, Optical Coherence/methods, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Follow-Up Studies, Neoplasm Proteins/genetics, Fluorescein Angiography/methods, DNA-Binding Proteins/genetics, Macular Degeneration/genetics, Macular Degeneration/diagnosis, Macular Degeneration/physiopathology, Neck, DNA/genetics, Exome Sequencing, DNA Mutational Analysis, Macula Lutea/pathology, Time Factors, Adult, Adolescent, KMTD2 gene, Adaptive optics, Autofluorescence imaging, Dystrophy, Kabuki syndrome, Macula, Multimodal imaging, Retinal imaging, Tomography, Optical Coherence

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38206414
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A1C745767A8A5
https://serval.unil.ch/resource/serval:BIB_A1C745767A8A.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_A1C745767A8A

Higher order interaction analysis quantifies co-ordination in the epigenome revealing novel biological relationships in Kabuki syndrome

Autori: Cuvertino, Sara Garner, Terence Martirosian, Evgenii a ďalší

Zdroj: Cuvertino, S, Garner, T, Martirosian, E, Walusimbi, B, Kimber, S J, Banka, S & Stevens, A 2025, 'Higher order interaction analysis quantifies co-ordination in the epigenome revealing novel biological relationships in Kabuki syndrome', Briefings in Bioinformatics, vol. 26, no. 1, bbae667. https://doi.org/10.1093/bib/bbae667

Predmety: Humans, Hematologic Diseases/genetics, Face/abnormalities, Vestibular Diseases/genetics, DNA Methylation, Epigenome, Abnormalities, Multiple/genetics, CpG Islands, Epigenomics/methods, Epigenesis, Genetic, Gene Regulatory Networks

Dostupnosť: https://research.manchester.ac.uk/en/publications/3d3811a3-e90f-4ba9-bedd-3d6735844646
https://doi.org/10.1093/bib/bbae667

DNA methylation signature classification of rare disorders using publicly available methylation data

Autori: Mathis Hildonen Marco Ferilli Tina Duelund Hjortshøj a ďalší

Zdroj: Hildonen, M, Ferilli, M, Hjortshøj, T D, Dunø, M, Risom, L, Bak, M, Ek, J, Møller, R S, Ciolfi, A, Tartaglia, M & Tümer, Z 2023, ' DNA methylation signature classification of rare disorders using publicly available methylation data ', Clinical Genetics, vol. 103, no. 6, pp. 688-692 . https://doi.org/10.1111/cge.14304

Predmety: 0301 basic medicine, Mendelian disorders, 0303 health sciences, Kabuki syndrome, epigenetics, Hematologic Diseases/genetics, KMT2D, DNA Methylation, Hematologic Diseases, Vestibular Diseases/genetics, episignature, 03 medical and health sciences, Vestibular Diseases, Face, Multiple/genetics, Humans, Abnormalities, Multiple, Abnormalities, rare disorders, VUS classification, mendelian disorders

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36705342
https://curis.ku.dk/ws/files/363269704/Clinical_Genetics_2023_Hildonen.pdf
https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cdd
https://doi.org/10.1111/cge.14304
https://hdl.handle.net/11573/1667240
https://doi.org/10.1111/cge.14304

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Autori: Rouxel, F. Yauy, K. Boursier, G. a ďalší

Predmety: Abnormalities, Multiple/diagnosis, Multiple/genetics, Face/abnormalities, Facial Recognition, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Mutation, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics

Relation: European Journal of Human Genetics; https://iris.unil.ch/handle/iris/74780; serval:BIB_5FB010BE5972; 000720806000002

Dostupnosť: https://iris.unil.ch/handle/iris/74780
https://doi.org/10.1038/s41431-021-00994-8

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Autori: Cocciadiferro, D. Augello, B. De Nittis, P. a ďalší

Predmety: Abnormalities, Multiple/enzymology, Multiple/genetics, Computer Simulation, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Face/abnormalities, Hematologic Diseases/enzymology, Hematologic Diseases/genetics, Histone Demethylases/genetics, Humans, Models, Molecular, Mutation, Missense, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Nuclear Proteins/genetics, Protein Conformation, Sequence Analysis, Protein, Vestibular Diseases/enzymology, Vestibular Diseases/genetics

Relation: Human Molecular Genetics; https://iris.unil.ch/handle/iris/120145; serval:BIB_185B007DFEA7; 000452534100001

Dostupnosť: https://iris.unil.ch/handle/iris/120145
https://doi.org/10.1093/hmg/ddy241

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Autori: Geraldine Malone Siddharth Banka William G. Newman a ďalší

Zdroj: Faundes, V, Malone, G, Newman, W G & Banka, S 2019, 'A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population', Journal of Human Genetics, vol. 64, no. 2, pp. 161-170. https://doi.org/10.1038/s10038-018-0536-6

Predmety: 0301 basic medicine, Lydia Becker Institute, Hematologic Diseases/genetics, Population, Mutation, Missense, 03 medical and health sciences, Neoplasm Proteins/genetics, Abnormalities, Multiple/genetics, Neoplasms, Genetics, Humans, Abnormalities, Multiple, Genetics (clinical), 0303 health sciences, Face/abnormalities, Prognosis, Hematologic Diseases, Vestibular Diseases/genetics, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, Genetics, Population, Phenotype, Vestibular Diseases, Case-Control Studies, Face, Multiple/genetics, Mutation, Abnormalities, Missense, Neoplasms/epidemiology, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, name=Lydia Becker Institute, DNA-Binding Proteins/genetics

Popis súboru: application/pdf

Prístupová URL adresa: https://www.research.manchester.ac.uk/portal/files/82717398/8992_1_merged_1539187126.pdf
https://pubmed.ncbi.nlm.nih.gov/30459467
https://research.manchester.ac.uk/en/publications/5a32efa7-781d-4061-b860-b54c00df8792
https://doi.org/10.1038/s10038-018-0536-6
https://www.nature.com/articles/s10038-018-0536-6
https://pesquisa.bvsalud.org/sms/resource/pt/mdl-30459467
https://pubmed.ncbi.nlm.nih.gov/30459467/
https://www.research.manchester.ac.uk/portal/files/82717398/8992_1_merged_1539187126.pdf
https://www.ncbi.nlm.nih.gov/pubmed/30459467
https://www.research.manchester.ac.uk/portal/en/publications/a-comparative-analysis-of-kmt2d-missense-variants-in-kabuki-syndrome-cancers-and-the-general-population(5a32efa7-781d-4061-b860-b54c00df8792).html
https://research.manchester.ac.uk/en/publications/5a32efa7-781d-4061-b860-b54c00df8792
https://doi.org/10.1038/s10038-018-0536-6
https://pure.manchester.ac.uk/ws/files/82717398/8992_1_merged_1539187126.pdf

KMT2A-CBL Fusion Gene Resulting from del(11)(q23.3q23.3) Identified by Chromosome Microarray Analysis - second report in AML

Autori: Boneva, Temenuzhka Nacheva, Elisabeth HSL Analystics LLP OncoGenomics, London UK and UCL Cancer Institute, UK

Prispievatelia: Boneva, Temenuzhka Nacheva, Elisabeth HSL Analystics LLP OncoGenomics, London UK and UCL Cancer Institute, UK

Predmety: Reports Section, Cardiovascular Diseases/genetics/pathology, DNA (Cytosine-5-)-Methyltransferases/genetics, Hematologic Diseases/genetics/*pathology/therapy, Hematopoiesis/*genetics, Hematopoietic Stem Cell Transplantation

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Reports/del11q23q23BonevaID100098.html; Temenuzhka, Boneva; Elisabeth, Nacheva. KMT2A-CBL Fusion Gene Resulting from del(11)(q23.3q23.3) Identified by Chromosome Microarray Analysis - second report in AML. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2020, 6, p. 262-264; http://hdl.handle.net/2042/70754; https://doi.org/10.4267/2042/70754

Dostupnosť: http://hdl.handle.net/2042/70754
https://doi.org/10.4267/2042/70754

Breakthroughs pave the way for artificial blood / Gjennombrudd baner vei for kunstig blod

Autori: Gråböl-Undersrud, Elisabeth

Zdroj: Genialt. 26(4):16

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Autori: Paulussen, A.D.C. Stegmann, A.P.A. Blok, M.J. a ďalší

Prispievatelia: Paulussen, A.D.C. Stegmann, A.P.A. Blok, M.J. a ďalší

Zdroj: Human Mutation. 32:E2018-E2025

Predmety: Male, 0301 basic medicine, Hematologic Diseases/genetics, PROTEIN LYSINE METHYLTRANSFERASES, 03 medical and health sciences, Neoplasm Proteins/genetics, EARS, Abnormalities, Multiple/genetics, Humans, histone methyl transferase, Abnormalities, Multiple, EMC MGC-02-96-01, 0303 health sciences, Kabuki syndrome, MAKE-UP-SYNDROME, Face/abnormalities, GENE, Hematologic Diseases, Vestibular Diseases/genetics, Neoplasm Proteins, DNA-Binding Proteins, Vestibular Diseases, KS, Face, Mutation, MLL2, GROWTH, Female, mutation, DNA-Binding Proteins/genetics, MENTAL-RETARDATION

Prístupová URL adresa: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21416
https://pubmed.ncbi.nlm.nih.gov/21280141
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3008537
http://onlinelibrary.wiley.com/doi/10.1002/humu.21416/abstract
https://onlinelibrary.wiley.com/doi/10.1002/humu.21416
https://research.rug.nl/en/publications/mll2-mutation-spectrum-in-45-patients-with-kabuki-syndrome
https://repub.eur.nl/pub/31620/
http://doi.wiley.com/10.1002/humu.21416
https://hdl.handle.net/1887/108693
https://hdl.handle.net/1887/97248
https://biblio.vub.ac.be/vubir/mll2-mutation-spectrum-in-45-patients-with-kabuki-syndrome(76d0f47d-4b9a-48bc-9d0e-4568dff3e3de).html

A second locus mapping to 2q35–36 for familial pseudohyperkalaemia

Autori: CARELLA M D'ADAMO, ADAMO PIO GROOTENBOER MIGNOT S a ďalší

Prispievatelia: CARELLA M D'ADAMO, ADAMO PIO GROOTENBOER MIGNOT S a ďalší

Zdroj: European Journal of Human Genetics. 12:1073-1076

Predmety: Male, Hematologic Diseases: genetic, Erythrocytes, Potassium: metabolism, Chromosome Mapping, Hematologic Disease, Chromosome, Hematologic Diseases, Pedigree, Chromosomes, Human, Pair 2, Erythrocytes: metabolism, Female, Haplotypes, Hematologic Diseases: genetics, Hematologic Diseases: metabolism, Humans, Potassium, Erythrocyte, 03 medical and health sciences, 0302 clinical medicine, Chromosomes, Human, Pair 2, Haplotype

Popis súboru: STAMPA

Prístupová URL adresa: https://www.nature.com/articles/5201280.pdf
https://pubmed.ncbi.nlm.nih.gov/15470366
http://hdl.handle.net/11368/2489152
http://www.ncbi.nlm.nih.gov/pubmed/15470366
https://arts.units.it/handle/11368/2489152
https://www.ncbi.nlm.nih.gov/pubmed/15470366
https://www.nature.com/articles/5201280
https://moh-it.pure.elsevier.com/en/publications/a-second-locus-mapping-to-2q35-36-for-familial-pseudohyperkalaemi
https://www.nature.com/articles/5201280.pdf
https://pubmed.ncbi.nlm.nih.gov/15470366/
https://hdl.handle.net/11368/2489152
https://doi.org/10.1038/sj.ejhg.5201280
http://www.ncbi.nlm.nih.gov/pubmed/15470366

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene

Autori: Gustavsson, Peter Klar, Joakim Matsson, Hans a ďalší

Zdroj: Br J Haematol. 119(1):261-4

Predmety: Adult, Child, Chromosomes, Human, Pair 19/*genetics, Erythroblasts, Genotype, Hematologic Diseases/*genetics, Humans, Linkage (Genetics)/genetics, Mutation/genetics, Pedigree, Research Support, Non-U.S. Gov't, Ribosomal Proteins/*genetics, Sequence Analysis, Molekylär genetik, Molecular Genetics

Popis súboru: print

Prístupová URL adresa: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373435

Derivative (1;18)(q10;q10)

Autori: Wan, TSK Ma, SK Au, WY a ďalší

Zdroj: Cancer Genetics and Cytogenetics. 128:35-38

Predmety: 0301 basic medicine, Adult, Male, Hematologic Diseases - Genetics, Pair 1 - Genetics, Translocation, Chromosome Disorders, Chromosomes, Fluorescence, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Genetic, Myeloproliferative Disorders - Genetics, Humans, Pair 18 - Genetics, In Situ Hybridization, In Situ Hybridization, Fluorescence, Aged, Chromosome Aberrations, 2. Zero hunger, Myeloproliferative Disorders, Chromosome Aberrations - Genetics, Chromosomes, Human, Pair 1 - Genetics, Myelodysplastic Syndromes - Genetics, Hematologic Diseases, 3. Good health, Chromosomes, Human, Pair 1, Karyotyping, Myelodysplastic Syndromes, Acute Disease, Female, Chromosomes, Human, Pair 18 - Genetics, Chromosomes, Human, Pair 18, Human

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/11454427
https://pubmed.ncbi.nlm.nih.gov/11454427/
http://hub.hku.hk/handle/10722/148253
https://www.sciencedirect.com/science/article/pii/S0165460801003910
http://www.ncbi.nlm.nih.gov/pubmed/11454427
https://europepmc.org/abstract/MED/11454427
http://hdl.handle.net/10722/148253

Intrauterine Transplantation hamatopoietischer Stammzellen zur Therapie genetischer Krankheiten. [Intrauterine transplantation of hematopoietic stem cells for therapy of genetic diseases]

Autori: Surbek, D. V. Hohlfeld, P. Gratwohl, A. a ďalší

Predmety: Animals *Blood Transfusion, Intrauterine Female Gene Therapy Gestational Age Hematologic Diseases/genetics/*therapy *Hematopoietic Stem Cell Transplantation Humans Immunologic Deficiency Syndromes/genetics/*therapy Infant, Newborn Metabolism, Inborn Errors/genetics/*therapy Pregnancy Treatment Outcome

Relation: Zeitschrift für Geburtshilfe und Neonatologie; https://iris.unil.ch/handle/iris/83014; serval:BIB_18B4C2CC1819; A1997YD44200002; 9440955

Dostupnosť: https://iris.unil.ch/handle/iris/83014

Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years

Prispievatelia: Sang-Guk Lee Tae Sung Park Gayoung Lim a ďalší

Predmety: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Chromosome Inversion, Chromosomes, Human, Pair 9/genetics, Female, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Hematologic Diseases/therapy, Hematopoietic Stem Cell Transplantation, Humans, Infant, Korea, Male, Middle Aged, Retrospective Studies, Time Factors, Young Adult

Relation: ANNALS OF CLINICAL AND LABORATORY SCIENCE; J00155; https://ir.ymlib.yonsei.ac.kr/handle/22282913/101983; http://www.annclinlabsci.org/content/40/3/273.long; T201003123; 52635

Dostupnosť: https://ir.ymlib.yonsei.ac.kr/handle/22282913/101983
http://www.annclinlabsci.org/content/40/3/273.long

Comparison of the results for the JAK2 V617F mutation detection by two methods ; alele specific PCR and restriction digestion assay on polycythemia vera and essential thrombocythemia DNA samples

Autori: Pajič, Tadej Vučković, Joško Gorišek, L. a ďalší

Predmety: hematologic diseases - genetics

Prístupová URL adresa: https://www.bib.irb.hr/286437

Comparison of the results for the JAK2 V617F mutation detection by two methods ; alele specific PCR and restriction digestion assay on polycythemia vera and essential thrombocythemia DNA samples

Autori: Vučković, Joško

Zdroj: Haematologica. :404

Predmety: hematologic diseases - genetics

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Autori: Makrythanasis, P. van Bon, B.W. Steehouwer, M. a ďalší

Predmety: Abnormalities, Multiple/diagnosis, Multiple/genetics, DNA-Binding Proteins/genetics, Face/abnormalities, Facies, Female, Genetic Association Studies, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Male, Mutation, Neoplasm Proteins/genetics, Phenotype, Sequence Analysis, DNA, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics, Kabuki syndrome, MLL2, Niikawa-Kuroki syndrome, genotype-phenotype correlation

Relation: Clinical Genetics; https://iris.unil.ch/handle/iris/234948; serval:BIB_F7CFC1017987; 000330092900004

Dostupnosť: https://iris.unil.ch/handle/iris/234948
https://doi.org/10.1111/cge.12081

Intrauterine Transplantation hamatopoietischer Stammzellen zur Therapie genetischer Krankheiten. [Intrauterine transplantation of hematopoietic stem cells for therapy of genetic diseases]

Autori: Surbek, D. V. Hohlfeld, P. Gratwohl, A. a ďalší

Zdroj: Zeitschrift fur Geburtshilfe und Neonatologie, vol. 201, no. 5, pp. 158-70

Predmety: Animals *Blood Transfusion, Intrauterine Female Gene Therapy Gestational Age Hematologic Diseases/genetics/*therapy *Hematopoietic Stem Cell Transplantation Humans Immunologic Deficiency Syndromes/genetics/*therapy Infant, Newborn Metabolism, Inborn Errors/genetics/*therapy Pregnancy Treatment Outcome

Relation: info:eu-repo/semantics/altIdentifier/pmid/9440955; info:eu-repo/semantics/altIdentifier/pissn/0948-2393; https://serval.unil.ch/notice/serval:BIB_18B4C2CC1819

Dostupnosť: https://serval.unil.ch/notice/serval:BIB_18B4C2CC1819

Familial transient erythroblastopenia of childhood is associated with the chromosome

Autori: Gustavsson, Peter Klar, Joakim Matsson, Hans a ďalší

Témy: Adult, Child, Chromosomes; Human; Pair 19/*genetics, Erythroblasts, Genotype, Hematologic Diseases/*genetics, Humans, Linkage (Genetics)/genetics, Mutation/genetics, Pedigree, Research Support; Non-U.S. Gov't, Ribosomal Proteins/*genetics, Sequence Analysis, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-73177
Br J Haematol, 0007-1048, 2002, 119:1, s. 261-4