Results 181 to 190 of about 214,100 (302)

Germline HLA heterozygosity is associated with decreased lung cancer risk. [PDF]

HGG Adv
Tan T, Shaw VR, Byun J, Lee HS, Han Y, Li Y, Hung RJ, Christiani DC, Wang XA, Johansson M, Xiao X, Zaridze D, Bojesen SE, Shete S, Albanes D, Aldrich MC, Tardon A, Fernandez-Tardon G, Le Marchand L, Rennert G, Bickeböller H, Wichmann HE, Risch A, Field JK, Davies M, Woll P, Kiemeney LA, Haugen A, Zienolddiny S, Lam S, Johansson M, Grankvist K, Schabath MB, Andrew A, Lazarus P, Arnold SM, Zhu D, Landi MT, McKay J, Amos C, Cheng C.   +40 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

PSMC-FAC: Automated Optimization of False-Negative Rate Corrections for Low-Coverage PSMC-Based Demographic Inference. [PDF]

Biology (Basel)
Iglesias-Santos F, Nieto A, Casillas S, Barbadilla A, Sarabia C.   +4 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Genetic Diversity and Clonal Structure of Small-Leaved Lime (<i>Tilia cordata</i> Mill.) in Lithuanian Protected Forest Areas. [PDF]

Plants (Basel)
Verbylaitė R, Lynikienė J, Gedminas A, Mishcherikova V, Baliuckas V, Suchockas V.   +5 more
europepmc   +1 more source

Compound Heterozygosity for Hemoglobin S and Hemoglobin LuLu Island

American Journal of Hematology, EarlyView.
Dana Lewis, Thomas Lofaro, Laura Fraser, Sheana Wijemanne, Barbara J. Bain   +4 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Empirical Validation of the Nearly Neutral Theory at Divergence and Population-Genomic Scales Using 144 Placental Mammal Genomes. [PDF]

Genome Biol Evol
Bastian M, Enard D, Lartillot N.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Population Structure and Genetic Diversity Among Lipizzan Mare Families in Hungary Based on Microsatellite Genotyping. [PDF]

Animals (Basel)
Kovács M, Hegedűs B, Mihók S, Knop R, Szabó C, Posta J.   +5 more
europepmc   +1 more source