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Quoted phrase not found in phrase index: "Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"
Page 1
Cervical Artery Dissections: Etiopathogenesis and Management.
Keser Z, Chiang CC, Benson JC, Pezzini A, Lanzino G. Keser Z, et al. Vasc Health Risk Manag. 2022 Sep 2;18:685-700. doi: 10.2147/VHRM.S362844. eCollection 2022. Vasc Health Risk Manag. 2022. PMID: 36082197 Free PMC article. Review.
The most common immediate complications related to CeAD are headache and neck pain (65-95%), TIA/ischemic stroke (>50%), and partial Horner's syndrome (25%). The prevailing hypothesis regarding the pathogenesis of sCeAD is that the underlying constitutional vessel wall …
The most common immediate complications related to CeAD are headache and neck pain (65-95%), TIA/ischemic stroke (>50%), and partial Horn …
Hypermobility, the Ehlers-Danlos syndromes and chronic pain.
Syx D, De Wandele I, Rombaut L, Malfait F. Syx D, et al. Clin Exp Rheumatol. 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28. Clin Exp Rheumatol. 2017. PMID: 28967365 Free article. Review.
In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with her …
In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome …
A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.
Mantle D, Wilkins RM, Preedy V. Mantle D, et al. Med Hypotheses. 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. Med Hypotheses. 2005. PMID: 15607555
Ehlers-Danlos syndrome is a rare disorder, comprising a group of related inherited disorders of connective tissue, resulting from underlying abnormalities in the synthesis and metabolism of collagen. This proposal is specifically concerned with Ehlers- …
Ehlers-Danlos syndrome is a rare disorder, comprising a group of related inherited disorders of connective tissue, resu …
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from patho …
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, diss …
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
OBJECTIVE: To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene associations. ...Targeted next-generation sequencing and/or exome sequencing were performed on probands (and available parents and siblings) fr …
OBJECTIVE: To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene ass …
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Pepin MG, et al. Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922459 Free article.
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations. ...Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation. …
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with he …
Carotid-cavernous fistula: current concepts in aetiology, investigation, and management.
Henderson AD, Miller NR. Henderson AD, et al. Eye (Lond). 2018 Feb;32(2):164-172. doi: 10.1038/eye.2017.240. Epub 2017 Nov 3. Eye (Lond). 2018. PMID: 29099499 Free PMC article.
Direct CCFs frequently are traumatic in origin and also may be caused by rupture of an ICA aneurysm within the cavernous sinus, Ehlers-Danlos syndrome type IV, or iatrogenic intervention. Causes of dural CCFs include hypertension, fibromuscular …
Direct CCFs frequently are traumatic in origin and also may be caused by rupture of an ICA aneurysm within the cavernous sinus, Ehlers …
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. ...Thus the natural course of vEDS and the clinical phenotype of patients are influenced by the type of COL3A1 variant …
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at th …
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Bowen JM, Hernandez M, Johnson DS, Green C, Kammin T, Baker D, Keigwin S, Makino S, Taylor N, Watson O, Wheeldon NM, Sobey GJ. Bowen JM, et al. Eur J Hum Genet. 2023 Jul;31(7):749-760. doi: 10.1038/s41431-023-01343-7. Epub 2023 Mar 29. Eur J Hum Genet. 2023. PMID: 36977837 Free PMC article. Review.
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. ...There is currently limited evidence for the use of drug therapy to reduce vascular events. We report on the incidence of vascular …
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. ...The …
Neuronal Migration Disorders.
Roberts B. Roberts B. Radiol Technol. 2018 Jan;89(3):279-295. Radiol Technol. 2018. PMID: 29298944 Review.
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. ...
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include …
583 results