Výsledky vyhľadávania - "Loeys-Dietz syndrome (LDS)"

Endovascular Treatment of Direct Carotid-Cavernous Fistula in a Patient with Loeys-Dietz Syndrome

Autori: Rajbhandari, Saujanya Pilgram-Pastor, Sara Kaesmacher, Johannes a ďalší

Zdroj: J Neuroendovasc Ther

Predmety: carotid-cavernous fistula (CCF), transarterial embolization, Case Report, liquid embolic, Loeys-Dietz syndrome (LDS), coils

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Autori: Melanie H. A. M. Perik Emmanuela Govaerts Steven Laga a ďalší

Zdroj: Front Genet
Frontiers in Genetics, Vol 14 (2023)
Frontiers in Genetics, 14, pp. 1251675
Frontiers in genetics

Predmety: thoracic aortic aneurysm and dissection (TAAD), Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, TGFB3, connective tissue disorder, Genetics, Radboud University Medical Center, Human medicine, genetic modifiers, QH426-470, founder, 3. Good health, Loeys–Dietz syndrome (LDS)

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37719708
https://doaj.org/article/a774750e83bd4f27bb0ab640be8f5b7d
https://repository.ubn.ru.nl//bitstream/handle/2066/296771/296771.pdf
https://hdl.handle.net/2066/296771
https://hdl.handle.net/10067/2012980151162165141
https://repository.uantwerpen.be/docstore/d:irua:20673

Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study

Autori: Quynh C. Nguyen Olivier Duverger Rashmi Mishra a ďalší

Zdroj: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

Predmety: Rare diseases, Rare connective tissue disorders, Loeys-Dietz syndrome (LDS), Oral health-related quality of life (OHRQoL), Oral health impact profile (OHIP-14), Medicine

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1750-1172

Prístupová URL adresa: https://doaj.org/article/ce1e31c56ea343bcbe80e9d1e7c661e8

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Autori: Anwar Baban Monia Magliozzi Bart Loeys a ďalší

Zdroj: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

Predmety: Loeys-Dietz syndrome (LDS), Oculo cutaneous albinism (OCA), Mosaicism, TGFBR1, TGFBR2, Aortic dilatation, Internal medicine, RC31-1245, Genetics, QH426-470

Popis súboru: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0661-2; https://doaj.org/toc/1471-2350

Prístupová URL adresa: https://doaj.org/article/809750225703489db3e78a66fda1fb79

Table2_Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.DOCX

Autori: Melanie H. A. M. Perik Emmanuela Govaerts Steven Laga a ďalší

Predmety: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Loeys–Dietz syndrome (LDS), TGFB3, thoracic aortic aneurysm and dissection (TAAD), founder, genetic modifiers, connective tissue disorder, variable expressivity

Relation: https://figshare.com/articles/dataset/Table2_Variable_clinical_expression_of_a_Belgian_TGFB3_founder_variant_suggests_the_presence_of_a_genetic_modifier_DOCX/24062754

Dostupnosť: https://doi.org/10.3389/fgene.2023.1251675.s002
https://figshare.com/articles/dataset/Table2_Variable_clinical_expression_of_a_Belgian_TGFB3_founder_variant_suggests_the_presence_of_a_genetic_modifier_DOCX/24062754

Acute Primary Small Bowel Volvulus in a Male With Loeys-Dietz Syndrome.

Autori: Yang S Flynn R Tessema TT

Zdroj: Cureus [Cureus] 2024 Jun 08; Vol. 16 (6), pp. e61956. Date of Electronic Publication: 2024 Jun 08 (Print Publication: 2024).

Spôsob vydávania: Case Reports; Journal Article

Informácie o časopise: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome.

Autori: Suleiman MN Freilinger S Meierhofer C a ďalší

Zdroj: Cardiovascular diagnosis and therapy [Cardiovasc Diagn Ther] 2022 Dec; Vol. 12 (6), pp. 787-802.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101601613 Publication Model: Print Cited Medium: Print ISSN: 2223-3652 (Print) Linking ISSN: 22233652 NLM ISO Abbreviation: Cardiovasc Diagn Ther Subsets: PubMed not MEDLINE

Mechanics of ascending aortas from TGFβ-1, -2, -3 haploinsufficient mice and elastase-induced aortopathy.

Autori: Lane BA Chakrabarti M Ferruzzi J a ďalší

Zdroj: Journal of biomechanics [J Biomech] 2021 Aug 26; Vol. 125, pp. 110543. Date of Electronic Publication: 2021 Jun 11.

Spôsob vydávania: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Informácie o časopise: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0157375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2380 (Electronic) Linking ISSN: 00219290 NLM ISO Abbreviation: J Biomech Subsets: MEDLINE

Výrazy zo slovníka MeSH: Loeys-Dietz Syndrome* , Pancreatic Elastase*, Animals ; Aorta ; Mice ; Mutation ; Transforming Growth Factor beta2/genetics

Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.

Autori: Wheeler JB Ikonomidis JS Jones JA

Zdroj: Advances in experimental medicine and biology [Adv Exp Med Biol] 2021; Vol. 1348, pp. 161-184.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Aortic Aneurysm, Thoracic* , Cardiovascular System* , Loeys-Dietz Syndrome*/genetics , Marfan Syndrome*/complications , Marfan Syndrome*/genetics, Connective Tissue ; Humans ; Signal Transduction ; Transforming Growth Factor beta/genetics ; Transforming Growth Factors

Pathophysiology and Pathogenesis of Marfan Syndrome.

Autori: Zeigler SM Sloan B Jones JA

Zdroj: Advances in experimental medicine and biology [Adv Exp Med Biol] 2021; Vol. 1348, pp. 185-206.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Aortic Dissection* , Marfan Syndrome*/diagnosis , Marfan Syndrome*/genetics , Marfan Syndrome*/therapy, Aorta ; Fibrillin-1 ; Humans ; Transforming Growth Factor beta

Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature.

Autori: Tian M Si MS Zhang Y a ďalší

Zdroj: Translational pediatrics [Transl Pediatr] 2020 Oct; Vol. 9 (5), pp. 695-701.

Spôsob vydávania: Case Reports; Journal Article

Informácie o časopise: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101649179 Publication Model: Print Cited Medium: Print ISSN: 2224-4344 (Print) Linking ISSN: 22244336 NLM ISO Abbreviation: Transl Pediatr Subsets: PubMed not MEDLINE

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Autori: Meester JAN Verstraeten A Schepers D a ďalší

Zdroj: Annals of cardiothoracic surgery [Ann Cardiothorac Surg] 2017 Nov; Vol. 6 (6), pp. 582-594.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101605877 Publication Model: Print Cited Medium: Print ISSN: 2225-319X (Print) Linking ISSN: 2225319X NLM ISO Abbreviation: Ann Cardiothorac Surg Subsets: PubMed not MEDLINE

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Autori: Akazawa Y Inaba Y Hachiya A a ďalší

Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Oct; Vol. 167A (10), pp. 2435-9. Date of Electronic Publication: 2015 Jun 22.

Spôsob vydávania: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Informácie o časopise: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Výrazy zo slovníka MeSH: Vasoconstriction*, Aortic Dissection/*genetics , Loeys-Dietz Syndrome/*genetics , Posterior Leukoencephalopathy Syndrome/*genetics , Protein Serine-Threonine Kinases/*genetics , Receptors, Transforming Growth Factor beta/*genetics , Subarachnoid Hemorrhage/*genetics, Aortic Dissection/blood ; Aortic Dissection/pathology ; Cerebral Arteries/metabolism ; Cerebral Arteries/pathology ; Child ; Gene Expression ; Heterozygote ; Humans ; Loeys-Dietz Syndrome/blood ; Loeys-Dietz Syndrome/pathology ; Male ; Mutation ; Posterior Leukoencephalopathy Syndrome/blood ; Posterior Leukoencephalopathy Syndrome/pathology ; Protein Serine-Threonine Kinases/blood ; Receptor, Transforming Growth Factor-beta Type II ; Receptors, Transforming Growth Factor beta/blood ; Signal Transduction ; Subarachnoid Hemorrhage/blood ; Subarachnoid Hemorrhage/pathology

Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway.

Autori: Yu B Liu L Sun H a ďalší

Zdroj: International journal of clinical and experimental pathology [Int J Clin Exp Pathol] 2015 Sep 01; Vol. 8 (9), pp. 10768-75. Date of Electronic Publication: 2015 Sep 01 (Print Publication: 2015).

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: e-Century Pub. Corp Country of Publication: United States NLM ID: 101480565 Publication Model: eCollection Cited Medium: Internet ISSN: 1936-2625 (Electronic) Linking ISSN: 19362625 NLM ISO Abbreviation: Int J Clin Exp Pathol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Signal Transduction*, Aortic Aneurysm, Abdominal/*enzymology , Human Umbilical Vein Endothelial Cells/*enzymology , Iliac Aneurysm/*enzymology , Loeys-Dietz Syndrome/*enzymology , Phosphatidylinositol 3-Kinase/*metabolism , Proto-Oncogene Proteins c-akt/*metabolism , RNA, Long Noncoding/*metabolism, Adult ; Aged ; Aged, 80 and over ; Aortic Aneurysm, Abdominal/blood ; Aortic Aneurysm, Abdominal/genetics ; Case-Control Studies ; Cells, Cultured ; Chromones/pharmacology ; Computational Biology ; Databases, Genetic ; Disease Progression ; Dose-Response Relationship, Drug ; Female ; Gene Expression Profiling/methods ; Human Umbilical Vein Endothelial Cells/drug effects ; Humans ; Iliac Aneurysm/blood ; Iliac Aneurysm/genetics ; Loeys-Dietz Syndrome/blood ; Loeys-Dietz Syndrome/genetics ; Male ; Middle Aged ; Morpholines/pharmacology ; Phosphoinositide-3 Kinase Inhibitors ; Protein Kinase Inhibitors/pharmacology ; RNA Interference ; RNA, Long Noncoding/blood ; RNA, Long Noncoding/genetics ; Transfection ; Transforming Growth Factor beta1/pharmacology ; Up-Regulation