Results 101 to 110 of about 53,382 (220)

Frequency of the IVS10-6T→G variant in Australian multiple-case breast cancer families [PDF]

, 2004
BACKGROUND: Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer.
Geoffrey J Lindeman, Melody Hiew, Jane E Visvader, Jennifer Leary, Michael Field, Clara L Gaff, RJ McKinlay Gardner, Kevin Trainor, Glenice Cheetham, Graeme Suthers, Judy Kirk, D Ford, AC Antoniou, KK Khanna, Y Shiloh, D Cortez, M Gatei, K Savitsky, RA Gatti, M Swift, M Swift, P Athma, HM Inskip, N Janin, B Geoffroy-Perez, JH Olsen, I Vorechovsky, MG FitzGerald, J Chen, G Chenevix-Trench, H Lei, CI Szabo, A Broeks, JL Bernstein, National Health and Medical Research Council, DA Berry, OT Johannsson, JE Armes, G Chenevix-Trench, T Dörk, A Broeks, N Foray, SS Sommer   +42 more
core   +2 more sources

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, EarlyView.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 more
wiley   +1 more source

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia

NeuroImage: Clinical, 2020
Background: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Rob A Dineen, Felix Raschke, Hannah L McGlashan, Stefan Pszczolkowski, Lorna Hack, Andrew D Cooper, Manish Prasad, Gabriel Chow, William P Whitehouse, Dorothee P Auer   +9 more
doaj   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +1 more source

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Role of DNA repair in class switch recombination and somatic hypermutation [PDF]

, 2011
Class switch recombination (CSR) and somatic hypermutation (SHM), occurring in the germinal center, are two important processes for B cell development.
Du, Likun
core   +1 more source

Management of Primary Refractory Diffuse Large B‐Cell Lymphoma in Patients Unsuitable for CAR T‐Cell Therapy

European Journal of Haematology, EarlyView.
ABSTRACT Primary refractory Diffuse Large B‐Cell Lymphoma is associated with poor outcomes and limited responsiveness to conventional salvage therapies. Although CAR T‐cell therapy represents the standard of care in this setting, a substantial proportion of patients cannot receive it despite meeting disease‐related criteria. In this review, “unsuitable”
Santino Caserta, Enrica Antonia Martino, Mamdouh Skafi, Maria Eugenia Alvaro, Antonella Bruzzese, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Ernesto Vigna, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

Journal of Gastroenterology and Hepatology, EarlyView.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard   +5 more
wiley   +1 more source

Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study

NeuroImage: Clinical, 2015
Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama, Kate Sinclair, Simona Fiori, James Doecke, Kerstin Pannek, Lee Reid, Martin Lavin, Stephen Rose   +7 more
doaj   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source