Results 11 to 20 of about 1,217,808 (321)

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

Medicina, 2023
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis   +16 more
doaj   +1 more source

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. [PDF]

Int J Mol Sci
Nagy P, Papp J, Grolmusz VK, Bozsik A, Pócza T, Oláh E, Patócs A, Butz H.   +7 more
europepmc   +3 more sources

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +10 more sources

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Frontiers in Genetics, 2021
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng, Melysia T. McCalman, Thomas P. Bossuyt, Tahsin Stefan Barakat   +3 more
doaj   +1 more source

Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]

, 2009
Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K, Currie G, Eisenhardt KM, Graeme Currie, Graham Martin, Martin GP, Paton C, Rachael Finn, Secretary of State for Health.   +8 more
core   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
core   +1 more source

The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases

罕见病研究, 2023
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
doaj   +1 more source

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]

, 2015
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris, A Trepanier, Astrid Weber, ATM Dierick-van Daele, B Zellerino, C Barnes, C Cordier, Caroline Benjamin, Catherine Houghton, Chris Edgar, CL Bennett, Claire Foo, D Evans, DH Peters, E McCann, G Martin, G Richardson, Gail Mannion, H Burton, H Skirton, H Skirton, Heather Skirton, Ian Ellis, Jan Birch, JGR Kromberg, JGR Kromberg, L Goldsmith, M Kirk, M McAllister, M McAllister, MD Schwartz, P Craig, R Iredale, RN Battista, S Cohen, SA Cohen, T Rigter, Türem Delikurt, V Hannig   +38 more
core   +1 more source

Association of pulse wave velocity with single nucleotide polymorphisms related to parathyroid hormone

Blood Pressure, 2018
Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng, Qian-Hui Guo, Dong-Yan Zhang, Ying Wang, Qi-Fang Huang, Chang-Sheng Sheng, Ji-Guang Wang, Jan A. Staessen, Yan Li   +8 more
doaj   +1 more source