Results 261 to 270 of about 290,368 (328)

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. [PDF]

, 1996
Susan L. Neuhausen, Sylvie Mazoyer, Lori S. Friedman, Michael R. Stratton, Kenneth Offit, Maria A. Caligo, Gail E. Tomlinson, Lisa Cannon‐Albright, D. Timothy Bishop, David P. Kelsell, E Solomon, B Weber, F Couch, Jeffery P. Struewing, Patricia N. Tonin, Francine Durocher, Steven A. Narod, Mark H. Skolnick, Gilbert Lenoir, O Serova, B Ponder, Dominique Stoppa‐Lyonnet, D Easton, Mary‐Claire King, David E. Goldgar   +24 more
openalex  

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

, 1998
S. W. Knight, T. Vulliamy, Nina S. Heiss, Gert Matthijs, Koenraad Devriendt, J. M. Connor, Michele D’Urso, Annemarie Poustka, Philip J. Mason, Inderjeet Dokal   +9 more
openalex   +1 more source

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

Clinical 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, Alejandro Mejia‐Garcia, Supriya Behl, Zaki El Haffaf, Sébastien Chénier, Bruno Maranda, Valérie Désilets, Sébastien Lévesque, Lysanne Castonguay, Anne‐Marie Mes‐Masson, Sylvie Giroux, François Rousseau, Nancy Hamel, George Chong, Simon Gravel, William D. Foulkes   +15 more
wiley   +1 more source

Haplotypic resolution of the challenging genomic regions of MHC and KIR using a combination of targeted sequencing and a novel assembly pipeline. [PDF]

Nucleic Acids Res
Mosbruger TL, Dinou A, Duke JL, Ferriola D, Li Y, Hayeck TJ, Monos DS.   +6 more
europepmc   +1 more source

Multipla: Multiscale Pangenomic Locus Analysis

Computer Graphics Forum, EarlyView.
Abstract Comparing gene organization across genomic sequences reveals insights into evolutionary and functional diversity among different organisms and varieties. Performing this task across many sequences, such as from a pangenome, is challenging because of the scale, the density of information, and the inherent variation. Often, analyses are centered
A. van den Brandt, E. Ståhlbom, F.J.M. van Workum, H. van de Wetering, C. Lundström, S. Smit, A. Vilanova   +6 more
wiley   +1 more source

Population data of 23 Y chromosome STR loci for Kyrgyz population from Kyrgyzstan. [PDF]

Data Brief
Isakova Z, Bukayev A, Irsaliev M, Sabitov Z, Zhabagin M.   +4 more
europepmc   +1 more source

Biochemical genetics of a natural population of Escherichia coli: seasonal changes in alleles and haplotypes

, 1995
Gulietta M. Pupo, Benjamin J. Richardson
openalex   +1 more source

Phylogenetic reconstruction and species delimitation in Stipeae with special reference to Stipa (Poaceae, Pooideae) using mitochondrial genomes

Cladistics, EarlyView.
Compared to plastid genomes, plant mitochondrial genomes have been less frequently used for species discrimination and phylogenetic studies due to assembly challenges, lower substitution rates and rapid structural evolution. However, this study demonstrates that mitochondrial genome fragments can be valuable for both molecular species identification ...
Katarzyna Krawczyk, Mateusz Maździarz, Łukasz Paukszto, Marcin Nobis, Jakub Sawicki   +4 more
wiley   +1 more source

Genome-wide association study reveals significant loci and candidate genes for fruit branch length in upland cotton. [PDF]

Plant Genome
Chang H, Ji H, Liu R, Feng J, Wang J, Zhao S, Li W, Qiu Z, Elsheery NI, Yu S, Li L, Feng Z.   +11 more
europepmc   +1 more source

Gluten‐related skin disorders: clinical presentation, diagnostic and treatments

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Gluten‐related disorders (GRDs) encompass a spectrum of clinical manifestations triggered by gluten ingestion in genetically susceptible individuals. These disorders include celiac disease (CD) and non‐celiac gluten sensitivity (NCGS) and present with both intestinal and extraintestinal symptoms, including skin manifestations.
Dario Didona, Roberto Maglie, Farzan Solimani   +2 more
wiley   +1 more source