Results 71 to 80 of about 61,429 (293)

Ataxia-Telangiectasia and variants [PDF]

, 2002
Deep insight on Ataxia-Telangiectasia and ...
JO Bay, S Perlman, Uhrhammer, N, Perlman, S, RA Gatti, N Uhrhammer, Bay, JO, Gatti, RA   +7 more
core   +1 more source

“A DNA Damage Response (DDR) –independent Role for the Ataxia-Telangiectasia Mutated (ATM) Gene Product"

, 2010
Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes.
Palazzo, Luca
core  

Ataxia Telangiectasia: A Case Report

, 2017
Ataxia telangiectasia (AT) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and occulo-cutaneous telangiectasia.
SC Mojumder, Mohammad Sayeed Hassan, Ferdous Ara, Sheikh Farjana Sonia, Abdullah Yusuf   +4 more
core   +1 more source

Unilateral Nevoid Telangiectasia

, 2004
PubMedID: 15160864Unilateral nevoid telangiectasia is a cutaneous condition consisting of congenital or acquired patches of superficial telangiectases in a unilateral linear distribution.
Gümürdülü D., Sönmezoglu S., Durdu M., Akman A., Karakaş M.   +4 more
core   +1 more source

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

, 2023
Background/Objectives: Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aimed to
Lobna Mansour, Elizabeth McDermott, Claudio Pignata, Dandapani, Madhumita, Gilbert, Donald L, Tischkowitz, Marc, Dückers, Gregor, Coman, David J, Gregor Dückers, Perlman, Susan L, Wainwright, Claire, Gilbert, Donald L., Suri, Mohnish, Dineen, Robert A, De Dios Perez, Blanca, Pignata, Claudio, Whitehouse, William, Dineen, Robert, Pauni, Micaela, Bhatt, Jayesh, Sophie Wilne, Panek, Rafal, McDermott, Elizabeth, Sumit Jagani, Oscar Porras, Bhatt, Jayesh M, Jayesh M. Bhatt, Susan L. Perlman, Pere Soler‐Palacin, Gilbert, Donald, Nick Russo, Sam, Micaela Pauni, Porto, Mariela Betina, Mahendra Bhatt, Jayesh, Donald L. Gilbert, Glazebrooke, Cristine, Wilne, Sophie, Katherine Schon, Masatoshi Takagi, Koenig, Mary Kay, Marc Tischkowitz, Coman, David J., Dineen, Robert A., Mary Kay Koenig, Perlman, Susan L., Blanca De Dios Perez, Emilia Cirillo, Whitehouse, William P., Renata Neves, Robert A. Dineen, Sam Nick Russo, Soler-Palacin, Pere, Claire Wainwright, Soler-Palacine, Pere, Madhumita Dandapani, DeDiosPerez, Blanca, McDermott, Elisabeth, Russo, Sam Nick, Caputi, Caterina, Kay Koenig, Mary, Dineen Robert A, Cristine Glazebrook, Glazebrook, Cristine, Rafal Panek, Neves, Renata, Caterina Caputi, Perlman, Susan, Cirillo, Emilia, Whitehouse, William P, Mohnish Suri, Coman, David, Mansour, Lobna, Mariela Betina Porto, David J. Coman, Schon, Katherine, Jagani, Sumit, Bhatt, Jayesh M., William P. Whitehouse, Takagi, Masatoshi, Porras, Oscar, Betina Porto, Mariela   +80 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Risk factors for facial telangiectasia [PDF]

, 2016
BackgroundTelangiectasia or red veins are one of the main features of facial skin aging. To date there are few studies investigating risk factors for telangiectasia.
Gunn, David A, Pardo, Luba M, Nijsten, Tamar, Hamer, Merel A   +3 more
core   +1 more source

Tumor‐Regional Immune Microenvironment: A Critical Factor in the Design of Radiotherapy–Immunotherapy Combination Trials

International Journal of Cancer, EarlyView.
ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang, Hui Wang, Weiyan Tang, Kai Kang, Kateryna Onyshchenko, Taotao Huang, Dan Liu, Jianxin Xue, You Lu, Gabriele Niedermann, Ren Luo   +10 more
wiley   +1 more source

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Children
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Brasi   +11 more
doaj   +1 more source

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

, 2009
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with
Carrillo, F, Bhatia, KP, Kapoor, R, Taylor, Alexander, Schneider, SA, Srinivasan, Venkataramanan   +5 more
core   +1 more source