Results 231 to 240 of about 118,231 (380)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

A high-resolution crossover landscape in Drosophila santomea reveals rapid and concerted evolution of multiple properties of crossing over control. [PDF]

PLoS Genet
Llopart A, Pettie N, Ryon A, Comeron JM.
europepmc   +1 more source

Estimating rate of gene-centromere recombination at electrophoretic and thermostability variation loci of isozymes in the brook trout.

, 1989
Kazuo Fujino, Tomoyuki Hosaka, Katsutoshi Arai, Muneo Kawamura   +3 more
openalex   +2 more sources

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Distinct evolutionary trajectories of subgenomic centromeres in polyploid wheat. [PDF]

Genome Biol
Huang Y, Liu Y, Liu C, Yi C, Lai J, Ling H, Su H, Han F.   +7 more
europepmc   +1 more source

Centromere mapping and orientation of the molecular linkage map of rice (Oryza sativa L.). [PDF]

, 1996
Kuldeep Singh, Takashige Ishii, Arnold Parco, N. Huang, D. S. Brar, G. S. Khush   +5 more
openalex   +1 more source

Sclerosing diseases of the skin

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Sclerosing skin diseases comprise a group of distinct dermatological conditions characterized by fibrotic changes that may severely impair patients’ quality of life. These conditions often present with cutaneous manifestations and, in some cases, may extend to extracutaneous tissues, potentially resulting in significant morbidity and mortality.
Yasamin Kalantari, Katharina Meier, Kamran Ghoreschi, Maria Kinberger, Farzan Solimani   +4 more
wiley   +1 more source

CENP-A is diluted during bovine spermatogenesis and is maintained at internally positioned centromere clusters in mature bull sperm. [PDF]

Chromosome Res
Štiavnická M, Ní Nualláin A, Collins CM, Dunleavy EM.   +3 more
europepmc   +1 more source

Topoisomerase I identified by scleroderma 70 antisera: enrichment of topoisomerase I at the centromere in mouse mitotic cells before anaphase.

, 1986
Gerd G. Maul, Bernard T. French, Walther J. van Venrooij, Sergio A. Jiménez   +3 more
openalex   +1 more source

A novel centromere monospecific serum to a human autoepitope on the histone H3‐like protein CENP‐A [PDF]

, 1998
Manuel M. Valdivia, Javier Figueroa, Concepción Iglesias, Manuela Ortı́z   +3 more
openalex   +1 more source