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Quoted phrase not found in phrase index: "Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"
Page 1
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangio …
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular …
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 …
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 …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. ...In this review, we revise the …
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and pr …
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 …
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 …
Vascular Ehlers-Danlos syndrome.
Germain DP, Herrera-Guzman Y. Germain DP, et al. Ann Genet. 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002. Ann Genet. 2004. PMID: 15127738 Review.
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a life-threatening inherited disorder of connective tissue, resulting from mutations in the COL3A1 gene coding for type III proc …
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV …
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 …
Vasculitis mimics.
Molloy ES, Langford CA. Molloy ES, et al. Curr Opin Rheumatol. 2008 Jan;20(1):29-34. doi: 10.1097/BOR.0b013e3282f1dcf2. Curr Opin Rheumatol. 2008. PMID: 18281854 Review.
RECENT FINDINGS: Hereditary causes of large-artery aneurysms such as Marfan's syndrome have long been recognized; recent years have seen a greater understanding of the genetics of Marfan's and other such disorders, including Loeys-Dietz syndrome and Ehler-Danlos …
RECENT FINDINGS: Hereditary causes of large-artery aneurysms such as Marfan's syndrome have long been recognized; recent years have s …
882 results