Results 191 to 200 of about 99,459 (305)

THE ATAXIA-TELANGIECTASIA MUTATED (ATM) GENE PLAYS A PIVOTAL ROLE IN THE REPAIR OF DNA IN CASES OF MYELODYSPLASTIC NEOPLASM

JVC Goes, LR Sampaio, RTG Oliveira, DP Borges, RDB Dias, César Erineudo Tavares de Araújo, PRC Passos, HLR Junior, SMM Magalhães, RF Pinheiro   +9 more
openalex   +1 more source

Ovarian and uterine carcinosarcomas are sensitive in vitro and in vivo to elimusertib, a novel ataxia-telangiectasia and Rad3-related (ATR) kinase inhibitor

, 2022
Diego Manavella, Blair McNamara, Justin Harold, Stefania Bellone, Tobias M.P. Hartwich, Yang Yang‐Hartwich, Levent Mutlu, Margherita Zipponi, Cem Demirkiran, Miguel Skyler Z. Verzosa, Gary Altwerger, Elena Ratner, Gloria S. Huang, Mitchell Clark, Vaagn Andikyan, Masoud Azodi, Peter E. Schwartz, Peter Dottino, Jungmin Choi, Ludmil B. Alexandrov, Natália Buza, Pei Hui, Alessandro D. Santin   +22 more
openalex   +2 more sources

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Widespread Progressive Telangiectasia in a 54-Year-Old Caucasian Male. [PDF]

Cureus
Kikina S, Ali L, Audet S, Koleva E, Imran A, Morley G, Alhameedi HN.   +6 more
europepmc   +1 more source

Simultaneous Intracranial and Spinal Hemorrhage Following Tenecteplase Thrombolysis for ST‐Elevation Myocardial Infarction: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Central nervous system (CNS) hemorrhage is a serious complication of intravenous thrombolysis. Tenecteplase, a fibrin‐specific thrombolytic agent, has a lower risk of hemorrhage than other agents. We report the first documented case of simultaneous intracranial and spinal hemorrhage following intravenous administration of tenecteplase.
Thamalee Palliyaguru, Pramith Ruwanpathirana, Praveen Weeratunga, Mythily Aravinthan, Thashi Chang   +4 more
wiley   +1 more source

Hæmorrhagic Telangiectasia [PDF]

Proceedings of the Royal Society of Medicine, 1945
openaire   +2 more sources

In vivo color Doppler optical coherence tomography of mucocutaneous telangiectases in hereditary hemorrhagic telangiectasia

, 2003
Shou‐jiang Tang, Maggie L. Gordon, Victor X. D. Yang, Marie E. Faughnan, Maria Circco, Bing Qi, Emily Seng Yue, Geoffrey W. Gardiner, Gregory Haber, Paul Kortan, Gabor Kandel, I. Alex Vitkin, Brian C. Wilson, Norman E. Marcon   +13 more
openalex   +1 more source

Dermoscopy of Lichen Planus Follicularis Tumidus: A Case Report With Pattern Analysis and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Lichen planus follicularis tumidus (LPFT) is a rare variant of lichen planus presenting as erythematous to violaceous plaques with significant follicular involvement, most commonly in the retroauricular area. We report a case demonstrating a novel dermoscopic pattern reminiscent of a follicular galaxy, composed of variably sized comedo‐like ...
Vahidehsadat Azhari, Mina Saber
wiley   +1 more source

Clinical phenotype and genetic characteristics of ataxia - telangiectasia: four cases report

, 2017
Lan Zheng, Xiaoli Liu, Li Cao
openalex   +1 more source

A missed case of hereditary hemorrhagic telangiectasia: A case report

, 2022
Jia Zhang, Pan Gaoyun, Yingying Zou, Xiaoshu Chen, Jingye Pan, Yi Wang, Shichao Quan, He Zou   +7 more
openalex   +1 more source