Results 21 to 30 of about 604,020 (263)

Familial Ménière's disease: clinical and genetic aspects [PDF]

, 2009
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Morrison, A W, Morrison, G A J, Bailey, M.E.S.   +2 more
core   +1 more source

Ethical, social and economic issues in familial breast cancer: a compilation of views from the EC biomed II demonstration project [PDF]

, 1999
: Demand for clinical services for familial breast cancer is continuing to rise across Europe. Service provision is far from uniform and, in most centres, its evolution has been determined by local conditions, specifically by local research ...
Hodgson, S, Haites, N., Stoppa-Lyonnet, D., Eccles, D, Stoppa-Lyonnet, D, Morrison, P., Eccles, D., Møller, P, Steel, M., Chang-Claude, J., Smyth, E., Moller, P., Evans, G.; id_orcid, Haites, N, Caligo, M., Steel, M, Hodgson, S., Vasen, H, Evans, G, Evans, G., Chang-Claude, J, Morrison, P, Smyth, E, Caligo, M, Vasen, H.   +24 more
core   +1 more source

A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer

Clinical Case Reports, 2023
Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to ...
Tahereh Soleimani, Corrie Bourdon, Jacquelyn Davis, Thais Fortes   +3 more
doaj   +1 more source

Haematological malignancies in relatives of patients affected with myeloproliferative neoplasms

eJHaem, 2022
In a cohort of 3131 patients with myeloproliferative neoplasms (MPNs), we identified 200 patients (6.4%) who reported a second case of haematological malignancies (HM) in first‐ or second‐degree relatives.
Daniele Vanni, Oscar Borsani, Yasuhito Nannya, Emanuela Sant'Antonio, Chiara Trotti, Ilaria Carola Casetti, Daniela Pietra, Anna Gallì, Silvia Zibellini, Virginia Valeria Ferretti, Luca Malcovati, Seishi Ogawa, Luca Arcaini, Elisa Rumi   +13 more
doaj   +1 more source

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. [PDF]

, 2002
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist.
P D P Pharoah, D F Easton, Peto, J, J Peto, Stratton, MR, Day, NE, McMullan, G, Antoniou, AC, Easton, DF, N E Day, M R Stratton, A C Antoniou, Pharoah, PDP, B J Ponder, Ponder, BJ, G McMullan   +15 more
core   +1 more source

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics, 2022
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M   +3 more
doaj   +1 more source

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia [PDF]

, 2002
Objectives To assess the cost effectiveness of strategies to screen for and treat familial hypercholesterolaemia. Design Cost effectiveness analysis.
Neil, H Andrew W, Lambert, H, Wonderling, David, Thorogood, Margaret, Wonderling, D, Humphries, SE, Neil, W, Marks, D, Humphries, Steve E, Marks, Dalya, Thorogood, M, Andrew, H, Humphries, Steve E., Lambert, Helen, Neil, H. A. W.   +14 more
core   +1 more source

Feasibility and effectiveness of telemedicine for adult patients with congenital heart disease: A one-year single-center experience-based studySummary table

International Journal of Cardiology Congenital Heart Disease
Introduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli, Nicola Grimaldi, Flavia Fusco, Antonio Orlando, Michela Palma, Maria Cristina Boccia, Sabrina Bassolino, Anna Iervolino, Berardo Sarubbi   +8 more
doaj   +1 more source

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) [PDF]

, 2018
Background and aims: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies.
EAS Familial Hypercholesterolaemia, EAS Familial Hypercholestero   +1 more
core   +1 more source

Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy

Zhongliu Fangzhi Yanjiu
ObjectiveTo analyze the proportion and clinicopathological characteristics of HER2-positive breast cancer patients with BRCA1/2 pathogenic variants, and their response to neoadjuvant anti-HER2 targeted therapy.
Xingyu LIAO, Huimin LIU, Jie SUN, Li HU, Juan ZHANG, Lu YAO, Ye XU, Yuntao XIE   +7 more
doaj   +1 more source