Results 41 to 50 of about 101,532 (231)

BfArM’s ADR-database analysis: Stratified analysis of anatomical areas affected by ACEi-associated angioedemas.

, 2020
BfArM’s ADR-database analysis: Stratified analysis of anatomical areas affected by ACEi-associated angioedemas.
Diana Dubrall (8626530), Bernhardt Sachs (8613639), Matthias Schmid (51150), Julia Carolin Stingl (4872463)   +3 more
core   +1 more source

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M., Lohse, P., Muders, M., Müller-Koch, Y., Daum, J., Mussack, T., Baretton, G., Kopp, R., Schiemann, Uwe, Holinski-Feder, E.   +9 more
core   +1 more source

Complex analysis of the national Hereditary angioedema cohort in Slovakia – Identification of 12 novel variants in SERPING1 gene

World Allergy Organization Journal
Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.
Adam Markocsy, MD, Katarina Hrubiskova, MD, Martin Hrubisko, MD, PhD, Tomas Freiberger, MD, PhD, Hana Grombirikova, MSc, Lenka Dolesova, MSc, PhD, Ludmila Slivka Vavrova, MSc, PhD, Regina Lohajova Behulova, MSc, PhD, Martina Ondrusova, MSc, PhD, MPH, Peter Banovcin, MD, PhD, Karolina Vorcakova, MD, PhD, Milos Jesenak, MD, MSc, PhD, MBA, MHA, FAAAAI   +11 more
doaj   +1 more source

Bee pollen as functional food and environmental bioindicator: current evidence and future challenges

Journal of the Science of Food and Agriculture, EarlyView.
Abstract Bee pollen (BP), a plant‐derived product collected by honey bees, is increasingly promoted as a functional food due to its content of proteins, essential amino acids, lipids, vitamins, minerals, and bioactive compounds such as polyphenols and flavonoids.
Luigi Parrotta, Stefano Del Duca
wiley   +1 more source

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

Reply to “A Case Report about the Management of Hereditary Angioedema with Normal Complement Levels during Pregnancy”

Acta Médica Portuguesa
N/A.
Ana Luísa Moura, Ângela Gaspar, Luís Miguel Borrego   +2 more
doaj   +1 more source

Impact of Chronic Urticaria on Major Life‐Changing Decisions: Greater Burden in Social, Physical, and Job/Career Domains

JEADV Clinical Practice, EarlyView.
The 32‐item Major Life‐Changing Decision Profile was validated and applied to 111 Turkish‐speaking chronic urticaria patients. Overall, 79.3% reported at least one affected major life‐changing decision, most commonly in social (69.4%), physical (56.8%) and job/career (36.9%) domains. Higher impact was observed in patients with disease onset ≤ 45 years (
Sinem Ornek Ozdemir, Kubra Cure, Defne Baskurt, Rabia Oztas Kara, Muhammed Burak Yucel, Esra Sarac, Pelin Kuteyla Can, Bahar Sevimli Dikicier, Ragip Ertas, Andac Salman, Murat Türk, Utkan Kızıltac, Faraz Mahmood Ali, Sam Salek, Andrew Y. Finlay, Emek Kocaturk   +15 more
wiley   +1 more source

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]

, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]

, 2009
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro, GHELLI, ANNA MARIA, Mattioli Stefano, Pala M., Barbieri, Anna, Vidoni S., Torroni Antonio, Carelli Valerio, Anna Barbieri, Vidoni, Sara, Valerio Carelli, Carelli, Valerio, Ghelli, Anna, Mattioli, Stefano, Torroni, Antonio, Iommarini, Luisa, Zanna, Claudia, Pala, Maria, Vidoni Sara, Stefano Mattioli, Antonio Torroni, Achilli A., ZANNA C, Porcelli Anna Maria, Zanna Claudia, Pala Maria, MATTIOLI S, Luisa Iommarini, GHELLI A, Achilli, Alessandro, IOMMARINI L, Rugolo, Michela, Torroni A., Porcelli, Anna Maria, CARELLI V., Ghelli Anna, Rugolo Michela, BARBIERI A, RUGOLO M, PORCELLI AM, Anna Ghelli, Barbieri Anna, Sara Vidoni, Maria Pala, Alessandro Achilli, Anna Maria Porcelli, Michela Rugolo, Claudia Zanna, Iommarini Luisa, VIDONI S   +49 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source