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Quoted phrase not found in phrase index: "Hereditary hemorrhagic telangiectasia type 4"
Page 1
Clinical Practice Guideline: Nosebleed (Epistaxis).
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM. Tunkel DE, et al. Otolaryngol Head Neck Surg. 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. Otolaryngol Head Neck Surg. 2020. PMID: 31910111
Management options for 2 special groups of patients-patients with hereditary hemorrhagic telangiectasia syndrome and patients taking medications that inhibit coagulation and/or platelet function-are included in this guideline. ...ACTION STATEMENTS: The guidel …
Management options for 2 special groups of patients-patients with hereditary hemorrhagic telangiectasia syndrome and pa …
Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A. Aguilera C, et al. Genes (Basel). 2023 Mar 22;14(3):772. doi: 10.3390/genes14030772. Genes (Basel). 2023. PMID: 36981042 Free PMC article.
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% …
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant m …
Neurological involvement in hereditary hemorrhagic telangiectasia.
Labeyrie PE, Courthéoux P, Babin E, Bergot E, Touzé E, Pelage JP. Labeyrie PE, et al. J Neuroradiol. 2016 Jul;43(4):236-45. doi: 10.1016/j.neurad.2016.02.005. Epub 2016 Apr 5. J Neuroradiol. 2016. PMID: 27059009 Review.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by epistaxis, telangiectases, and multi-organ vascular dysplasia. ...Finally, we review indications and techniques of embolization for hemorrhagic lesions and e …
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by epistaxis, telangiectase …
The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia.
Major T, Gindele R, Szabó Z, Kis Z, Bora L, Jóni N, Bárdossy P, Rácz T, Bereczky Z. Major T, et al. Pathol Oncol Res. 2020 Oct;26(4):2783-2788. doi: 10.1007/s12253-019-00602-7. Epub 2019 Jan 26. Pathol Oncol Res. 2020. PMID: 30685840 Free article.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide prevalence of 1:5000-1:10000. ...
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide pre …
SEX STEROIDS AND MACULAR TELANGIECTASIA TYPE 2.
Müller S, Allam JP, Bunzek CG, Clemons TE, Holz FG, Charbel Issa P. Müller S, et al. Retina. 2018 Jan;38 Suppl 1:S61-S66. doi: 10.1097/IAE.0000000000001789. Retina. 2018. PMID: 28837534
PURPOSE: To investigate the relationship between macular telangiectasia Type 2 and systemic levels of sex steroids or their antagonization. ...CONCLUSION: The results indicate that steroidal sex hormones might be involved in the presumably multifactorial pathophysio …
PURPOSE: To investigate the relationship between macular telangiectasia Type 2 and systemic levels of sex steroids or their an …
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K, Ishiguro T, Komiyama M, Morisaki T, Morisaki H, Minase G, Hamanaka K, Miyatake S, Matsumoto N, Kato M, Takahashi T, Yorifuji T. Kitayama K, et al. BMC Med Genomics. 2021 Dec 6;14(1):288. doi: 10.1186/s12920-021-01139-y. BMC Med Genomics. 2021. PMID: 34872578 Free PMC article.
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). ...Pulmonary and cerebral …
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by re …
Genetics of pulmonary hypertension.
Best DH, Austin ED, Chung WK, Elliott CG. Best DH, et al. Curr Opin Cardiol. 2014 Nov;29(6):520-7. doi: 10.1097/HCO.0000000000000105. Curr Opin Cardiol. 2014. PMID: 25159282 Review.
RECENT FINDINGS: Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the …
RECENT FINDINGS: Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority o …
CONCURRENT IDIOPATHIC MACULAR TELANGIECTASIA TYPE 2 AND CENTRAL SEROUS CHORIORETINOPATHY.
Matet A, Yzer S, Chew EY, Daruich A, Behar-Cohen F, Spaide RF. Matet A, et al. Retina. 2018 Jan;38 Suppl 1(Suppl 1):S67-S78. doi: 10.1097/IAE.0000000000001836. Retina. 2018. PMID: 29016451 Free PMC article.
PURPOSE: To describe cases presenting with features of idiopathic macular telangiectasia (MacTel) Type 2 and central serous chorioretinopathy (CSC). ...Regarding the MacTel Type 2 findings, all subjects presented perifoveal telangiectasia on fluorescei …
PURPOSE: To describe cases presenting with features of idiopathic macular telangiectasia (MacTel) Type 2 and central serous ch …
Human genetics and molecular mechanisms of vein of Galen malformation.
Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, DiLuna ML, Matouk CC, Aagaard-Kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT. Duran D, et al. J Neurosurg Pediatr. 2018 Apr;21(4):367-374. doi: 10.3171/2017.9.PEDS17365. Epub 2018 Jan 19. J Neurosurg Pediatr. 2018. PMID: 29350590 Review.
Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1). However, the …
Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation …
Longitudinal Assessment of Curacao Criteria in Children with Hereditary Hemorrhagic Telangiectasia.
Pollak M, Gatt D, Shaw M, Hewko SL, Lamanna A, Santos S, Ratjen F. Pollak M, et al. J Pediatr. 2023 Dec;263:113665. doi: 10.1016/j.jpeds.2023.113665. Epub 2023 Aug 11. J Pediatr. 2023. PMID: 37572862
OBJECTIVE: To assess the utility of the Curacao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This was a single-center, retrospective analysis of patients attending the HHT clinic at the Hospital for Sic …
OBJECTIVE: To assess the utility of the Curacao criteria by age over time in children with hereditary hemorrhagic telangiec …
66 results