Results 181 to 190 of about 58,203 (304)

Haemochromatosis - a modern clinician's guide. [PDF]

Intern Med J
Fiori JG, Olynyk JK.
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Faroese whole genomes provide insight into ancestry and recent selection. [PDF]

Elife
Hamid I, Mortensen Ó, Refoyo-Martínez A, Lydersen LN, Emde AK, Hendershott M, Apol KD, Andorsdóttir G, Meisner J, Wasik KA, Racimo F, Castel SE, Gregersen NO.   +12 more
europepmc   +1 more source

Genomic Survey of Selection Footprints in Three Buffalo Breeds from Eastern Europe. [PDF]

Animals (Basel)
Saleh MS, Zaghloul AR, Carpio MG, Pierini C, De Palo P, Landi V.   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A reappraisal of APOE genetic effects on Alzheimer's disease risk in the Japanese population: a meta-analysis. [PDF]

Mol Neurodegener
Miyashita A, Hara N, Obinata A, Tsukie T, Hasegawa M, Ishiguro T, Kasuga K, Kikuchi M, Hashimoto T, Kanekiyo T, Ikeuchi T.   +10 more
europepmc   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

An increased number of heterozygous calls in the AxiomTM Equine Genotyping Array. [PDF]

G3 (Bethesda)
Gmel AI, Pirani A, McInnis L, Neuditschko M.   +3 more
europepmc   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Genome-wide assessment of runs of homozygosity and inbreeding in Inner Mongolia cashmere goats reveals candidate genes for economic traits. [PDF]

Front Vet Sci
Qi Y, Rong Y, Zhang M, Wang X, Ao X, Shang F, Zhang Y, Wang R.   +7 more
europepmc   +1 more source