Results 311 to 320 of about 350,738 (380)

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada

open access: yesClinical Genetics, EarlyView.
Using haplotype analysis, we characterized PMS2 c.2117del, identified in 22 families, as a founder variant in the French‐Canadian population of Quebec. It is the most frequent cancer‐associated founder variant in French‐Canadians, with over‐representation in five regions of Quebec. The variant contributed to colorectal and endometrial cancer incidence.
Anne‐Laure Chong   +15 more
wiley   +1 more source

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

open access: yesClinical Genetics, EarlyView.
Accurately diagnosing Beckwith–Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS ...
Iacopo Bellani   +8 more
wiley   +1 more source

Haplotype-based insights into seminal root angle in barley. [PDF]

open access: yesPlant Genome
Aldiss Z   +11 more
europepmc   +1 more source

Phylogeography of the Anaspides richardsoni species clade (Anaspidacea, Anaspidesidae): glaciation and recolonization of the Tasmanian Central Plateau and the question of paraphyletic species

open access: yesCladistics, EarlyView.
Abstract We herein present a phylogenetic and population genetic analysis of a Tasmanian Mountain Shrimp clade, based on ddRAD and cytochrome oxidase subunit‐1 data sets. Our data show that the morphologically well‐delineated and widespread Anaspides richardsoni Ahyong, 2016 is paraphyletic with respect to four other species (A. eberhardi Ahyong, 2016,
Christoph G. Höpel   +4 more
wiley   +1 more source

Persisting plasma proinsulin levels in a cohort of 482 individuals with long‐standing type 1 diabetes mellitus

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Aims As compared with C‐peptide, plasma proinsulin levels in individuals with long‐standing type 1 diabetes mellitus are relatively understudied, but may serve as a marker of stressed, yet alive β‐cells. Materials and Methods We measured proinsulin and C‐peptide levels (detection limit <0.15 pmol/L and <0.05 nmol/L, respectively) in a cross ...
Douwe Frank de Wit   +12 more
wiley   +1 more source

Invasive insect genetics: Start codon targeted (SCoT) markers provide superior data to describe genetic diversity of brown marmorated stink bug, Halyomorpha halys, in a newly colonized region

open access: yesEntomologia Experimentalis et Applicata, EarlyView.
In this study, we assessed the genetic diversity of Halyomorpha halys, an invasive agricultural pest, in Türkiye using start codon targeted (SCoT) markers and mitochondrial cytochrome c oxidase subunit I (COI) sequences. SCoT markers revealed high polymorphism (91.4%) and six genetic clusters among 71 specimens from 12 provinces, with Trabzon showing ...
Ismail Oguz Ozdemir   +5 more
wiley   +1 more source

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