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Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature.
Dupuis O, Delagrange L, Dupuis-Girod S. Dupuis O, et al. Orphanet J Rare Dis. 2020 Jan 7;15(1):5. doi: 10.1186/s13023-019-1286-z. Orphanet J Rare Dis. 2020. PMID: 31910869 Free PMC article. Review.
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) …
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 t …
Ado-trastuzumab emtansine associated spider telangiectasia.
Gursoy P, Acar A, Acikalin T. Gursoy P, et al. J Oncol Pharm Pract. 2022 Jun;28(4):986-988. doi: 10.1177/10781552211073878. Epub 2022 Jan 18. J Oncol Pharm Pract. 2022. PMID: 35040682
CASE REPORT: In our case, we reported our patient who developed mucosal and cutaneous telangiectasia after T-DM1 treatment and who had a complete response in metastases after skin lesions. MANAGEMENT AND OUTCOME: While no side effects were observed during the …
CASE REPORT: In our case, we reported our patient who developed mucosal and cutaneous telangiectasia after T-DM1 treatment and …
Focal cutaneous telangiectasia in a young dog of probable congenital origin.
Ueyama A, Hoshino T, Asakawa MG, Shimada T, Nagata M. Ueyama A, et al. Vet Med Sci. 2022 Nov;8(6):2277-2282. doi: 10.1002/vms3.940. Epub 2022 Sep 9. Vet Med Sci. 2022. PMID: 36084295 Free PMC article.
BACKGROUND: Idiopathic cutaneous telangiectasia has been rarely described in the dog. OBJECTIVES: We present the first case of idiopathic focal cutaneous telangiectasia in a young dog of probable congenital origin. ...RESULTS: Diascopy revealed a blanc …
BACKGROUND: Idiopathic cutaneous telangiectasia has been rarely described in the dog. OBJECTIVES: We present the first case of …
Variation in telangiectasia predisposing genes is associated with overall radiation toxicity.
Tanteles GA, Murray RJ, Mills J, Barwell J, Chakraborti P, Chan S, Cheung KL, Ennis D, Khurshid N, Lambert K, Machhar R, Meisuria M, Osman A, Peat I, Sahota H, Woodings P, Talbot CJ, Symonds RP. Tanteles GA, et al. Int J Radiat Oncol Biol Phys. 2012 Nov 15;84(4):1031-6. doi: 10.1016/j.ijrobp.2012.02.018. Epub 2012 Jun 6. Int J Radiat Oncol Biol Phys. 2012. PMID: 22677372
We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could predispose to such late, normal tissue vascular damage. METHODS AND MATERIALS: The relationship between cutaneous telangiectasia a …
We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could pred …
No evidence for constitutional ATM mutation in breast/gastric cancer families.
Bay JO, Grancho M, Pernin D, Presneau N, Rio P, Tchirkov A, Uhrhammer N, Verrelle P, Gatti RA, Bignon YJ. Bay JO, et al. Int J Oncol. 1998 Jun;12(6):1385-90. doi: 10.3892/ijo.12.6.1385. Int J Oncol. 1998. PMID: 9592204
Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disease characterised by cutaneous telangiectasia, cerebellar ataxia, immunodeficiency, high sensitivity to ionising radiation, chromosomal instability and an increased risk of cancer. ...In order to give ano …
Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disease characterised by cutaneous telangiectasia, cerebellar ataxia …
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
Alonazi NA, Hundallah KJ, Al Hashem AM, Mohamed S. Alonazi NA, et al. Neurosciences (Riyadh). 2018 Apr;23(2):162-164. doi: 10.17712/nsj.2018.2.20170463. Neurosciences (Riyadh). 2018. PMID: 29664460 Free PMC article.
Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections ar …
Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic im …
Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?
Moretti-Ferreira D, Koiffmann CP, Souza DH, Diament AJ, Wajntal A. Moretti-Ferreira D, et al. Am J Med Genet. 1989 Dec;34(4):548-51. doi: 10.1002/ajmg.1320340419. Am J Med Genet. 1989. PMID: 2624267
We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular cafe-au-lait spots, and cutaneous telangiectasia on large parts of …
We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hyp …
Therapy for essential cutaneous telangiectasia.
Alderman DB. Alderman DB. Postgrad Med. 1977 Jan;61(1):91-5. doi: 10.1080/00325481.1977.11714509. Postgrad Med. 1977. PMID: 834688
A method of treatment of essential cutaneous telangiectasia is described which has been used successfully in more than 150 cases. ...Before any physician attempts to treat telangiectasia by this method, he or she should observe its performanace by an experien …
A method of treatment of essential cutaneous telangiectasia is described which has been used successfully in more than 150 cas …