Results 41 to 50 of about 1,774,415 (209)

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
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A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy. [PDF]

, 2019
Rosette-forming glioneuronal tumor (RGNT) most commonly occurs adjacent to the fourth ventricle and therefore rarely presents with epilepsy. Recent reports describe RGNT occurrence in other anatomical locations with considerable morphologic and genetic ...
Corless, Christopher L, Ferris, Sean P, Grafe, Marjorie, Gultekin, Sakir H, Halfpenny, Aaron, Lawce, Helen, Lucas, Lora, Moore, Stephen, Nazemi, Kellie, Olson, Susan, Perry, Arie, Selden, Nathan, Solomon, David A, Woltjer, Randy, Wood, Matthew D   +14 more
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A metastatic secretory gastric plasmacytoma with aberrant CD3 expression in a dog [PDF]

, 2017
A 10-year-old crossbred dog was presented with a 6-week history of hematemesis, melena, anorexia, and lethargy. Clinical evaluation revealed a gastric mass with a regional lymphadenomegaly as well as a monoclonal gammopathy manifesting as ...
Atherton, Matthew J., Morris, Joanna S., Sharpe, Sam, Vazquez-Sanmartin, Samantha, Waugh, Elspeth M.   +4 more
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Molecular Diagnosis of Mycobacteria [PDF]

Clinical Chemistry, 2001
AbstractTuberculosis is one of the leading infectious diseases in the world and is responsible for more than 2 million deaths and 8 million new cases annually. Because of the slow growth rate of the causative agent Mycobacterium tuberculosis, isolation, identification, and drug susceptibility testing of this organism and other clinically important ...
H, Soini, J M, Musser
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Comparative analysis of aldosterone and renin assays for primary aldosteronism screening

Scientific Reports
The transition from radioimmunoassay (RIA) to chemiluminescent enzyme immunoassay (CLEIA) for plasma aldosterone concentration (PAC) assays has raised concerns over its impact on primary aldosteronism (PA) diagnosis.
Yuki Taki, Takashi Kono, Kyoko Teruyama, Takamasa Ichijo, Ikki Sakuma, Hidekazu Nagano, Hiroka Miyagawa, Satomi Kono, Masanori Fujimoto, Naoko Hashimoto, Masataka Yokoyama, Eiryo Kawakami, Takashi Miki, Tomoaki Tanaka   +13 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
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Gene rearrangements in bone marrow cells of patients with acute myelogenous leukemia [PDF]

, 2000
At diagnosis, clonal gene rearrangement probes {[}retinoic acid receptor (RAR)-alpha, major breakpoint cluster region (M-bcr), immunoglobulin (Ig)-JH, T cell receptor (TcR)-beta, myeloid lymphoid leukemia (MLL) or cytokine genes (GM-CSF, G-CSF, IL-3 ...
Braun, S., Duell, T., Gerhartz, Helmut Heinrich, Mittermueller, J., Schmetzer, Helga Maria, Wiesner, D.   +5 more
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Molecular diagnosis of parasites

Experientia, 1991
New developments in molecular biology have generated exciting possibilities for improved diagnosis of parasitic diseases. Through gene cloning and expression and peptide synthesis, defined parasite antigens can be produced in vitro for use in serodiagnosis, while nuclear hybridization techniques offer a vastly improved approach to identification of ...
openaire   +3 more sources

Research progress and application status of organoid in breast cancer subtypes

Biomolecules & Biomedicine
Breast cancer (BC) is a prevalent malignant tumor that poses a significant health risk to women. The complexity of basic BC research and clinical treatment is influenced by multiple factors, including age, fertility, hormone metabolism, molecular ...
Qiuxia Zhang, Min Wang, Li You, Chen Chen, Jia Feng, Miao Song, Kui Yang, Xuexue Liu, Guangrong Li, Jinbo Liu   +9 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
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