نتائج البحث - "Kyphoscoliotic ehlers-danlos syndrome"

1

دورية أكاديمية

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

المؤلفون: Apoorva Bhandari, MD, MSc, Victoria Siu, MD, FRCPC, FCCMG, Audra A. Duncan, MD, FACS, FRCSC

المصدر: Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 3, Pp 101465- (2024)

مصطلحات موضوعية: Arterial rupture, Celiac pseudoaneurysm, Kyphoscoliotic Ehlers-Danlos syndrome, Vascular complications, Vascular fragility, Surgery, RD1-811, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468428724000492Test; https://doaj.org/toc/2468-4287Test

الوصول الحر: https://doaj.org/article/b1460f53e6e4483e9555456efa8772b8Test

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النص الكامل

2

دورية أكاديمية

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

المؤلفون: Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan

المصدر: Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)

مصطلحات موضوعية: case report, kyphoscoliotic Ehlers–Danlos syndrome, PLOD1 gene, vascular complications, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/45807d7cf6fb4df093eb632eb220d642Test

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النص الكامل

3

دورية أكاديمية

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

المؤلفون: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Kyphoscoliotic ehlers-danlos syndrome, PLOD1 gene, mutation, case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-020-01154-3Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/968284b13db742f492aa25a83a5fa211Test

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النص الكامل

4

دورية أكاديمية

Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

المؤلفون: Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo

المصدر: The EuroBiotech Journal, Vol 2, Iss s1, Pp 42-44 (2018)

مصطلحات موضوعية: kyphoscoliotic ehlers-danlos syndrome, vascular ehlers-danlos syndrome, col1a1, col3a1, col5a1, fkbp14, plod1, ebtna utility gene test, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2564-615XTest

الوصول الحر: https://doaj.org/article/7d69c877488a4bbaae144a31a60debebTest

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النص الكامل

5

دورية أكاديمية

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

المؤلفون: Pei Jin Lim, Uschi Lindert, Lennart Opitz, Ingrid Hausser, Marianne Rohrbach, Cecilia Giunta

المصدر: Genes; Volume 10; Issue 7; Pages: 517

مصطلحات موضوعية: kyphoscoliotic Ehlers–Danlos Syndrome, EDS type VI, transcriptomics, connective tissue, extracellular matrix, PLOD1, FKBP14

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes10070517Test

الإتاحة: https://doi.org/10.3390/genes10070517Test

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6

دورية أكاديمية

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

المؤلفون: Lim, Pei Jin, Lindert, Uschi, Opitz, Lennart, Hausser, Ingrid, Rohrbach, Marianne, Giunta, Cecilia

المصدر: Genes, 10 (7)

مصطلحات موضوعية: kyphoscoliotic Ehlers-Danlos Syndrome, EDS type VI, transcriptomics, connective tissue, extracellular matrix, PLOD1, FKBP14

وصف الملف: application/application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000478636700073; http://hdl.handle.net/20.500.11850/358951Test

الإتاحة: https://doi.org/20.500.11850/358951Test
https://doi.org/10.3929/ethz-b-000358951Test
https://doi.org/10.3390/genes10070517Test
https://hdl.handle.net/20.500.11850/358951Test

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7

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

المؤلفون: Mei Li, Weibo Xia, Yan Jiang, Chenxi Jin, Xiaolin Ni, Ou Wang, Xiaoping Xing

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Male, Joint hypermobility, lcsh:Internal medicine, Kyphoscoliotic ehlers-danlos syndrome, PLOD1 gene, mutation, case report, medicine.medical_specialty, lcsh:QH426-470, Adolescent, Nifedipine, Mutation, Missense, Gene Expression, Case Report, Genes, Recessive, Scoliosis, 03 medical and health sciences, 0302 clinical medicine, Asian People, Genetics, medicine, Humans, Missense mutation, Kyphosis, 030212 general & internal medicine, lcsh:RC31-1245, Kyphoscoliosis, Genetics (clinical), Base Sequence, Bone Density Conservation Agents, Muscular hypotonia, Hydroxycholecalciferols, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, business.industry, Calcium Channel Blockers, medicine.disease, Dermatology, Hypotonia, lcsh:Genetics, Phenotype, Palpebral fissure, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c4776cdddd2104ff4f6d06b8a72fc9Test
https://doi.org/10.1186/s12881-020-01154-3Test

8

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

المؤلفون: Ingrid Hausser, Cecilia Giunta, Lennart Opitz, Marianne Rohrbach, Uschi Lindert, Pei Jin Lim

المساهمون: University of Zurich, Rohrbach, Marianne

المصدر: Genes
Genes, 10 (7)
Genes, Vol 10, Iss 7, p 517 (2019)
Volume 10
Issue 7

مصطلحات موضوعية: 0301 basic medicine, Male, Collagen helix, FKBP14, Extracellular matrix, Transcriptome, transcriptomics, 0302 clinical medicine, Child, Genetics (clinical), Cells, Cultured, connective tissue, Skin, biology, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Middle Aged, Peptidylprolyl Isomerase, kyphoscoliotic Ehlers–Danlos Syndrome, Cell biology, 030220 oncology & carcinogenesis, Child, Preschool, Female, EDS type VI, Adult, 2716 Genetics (clinical), lcsh:QH426-470, Adolescent, extracellular matrix, 610 Medicine & health, 10071 Functional Genomics Center Zurich, PLOD1, Article, 03 medical and health sciences, 1311 Genetics, Genetics, medicine, Humans, Gene, Genetic heterogeneity, Endoplasmic reticulum, kyphoscoliotic Ehlers-Danlos Syndrome, Gene Expression Profiling, Fibroblasts, medicine.disease, lcsh:Genetics, 030104 developmental biology, Ehlers–Danlos syndrome, 10036 Medical Clinic, Chaperone (protein), biology.protein, Ehlers-Danlos Syndrome

وصف الملف: application/application/pdf; application/pdf; Transcriptomics_FKBP14_PLOD1_kEDS_Genes.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e2c64494a77c563117b52ad26a49f0Test
http://europepmc.org/articles/PMC6678841Test

9

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

المساهمون: University of Zurich, Giunta, Cecilia

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Joint hypermobility, medicine.medical_specialty, Pathology, 2716 Genetics (clinical), Hearing loss, DNA Mutational Analysis, Connective tissue, 610 Medicine & health, Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, FKBP22, medicine, Humans, Original Research Article, Child, Myopathy, Alleles, Genetic Association Studies, Genetics (clinical), kyphoscoliotic Ehlers-Danlos syndrome, Chromosome Mapping, Peptidylprolyl Isomerase, mutations, medicine.disease, diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations, Magnetic Resonance Imaging, Natural history, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Ehlers–Danlos syndrome, 10036 Medical Clinic, FKBP14, Child, Preschool, diagnostic criteria, Mutation, Cohort, Ehlers-Danlos Syndrome, Female, medicine.symptom, Magnetic Resonance Angiography, 030217 neurology & neurosurgery

وصف الملف: Zora.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7bfeb67d6143c933e1cc7fd8aeffb9Test
https://www.zora.uzh.ch/id/eprint/145773Test/

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