Results 151 to 160 of about 51,411 (295)

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

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

ZSCAN4 functions as a safeguard to maintain centromere integrity during oocyte meiosis. [PDF]

Genome Biol
Choi DY, Leem J, Lee C, Oh JS.
europepmc   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Pancentromere analysis of Allium species reveals diverse centromere positions in onion and gigantic centromeres in garlic. [PDF]

Plant Cell
Nagaki K, Ushijima K, Akagi T, Tanaka K, Kobayashi H.   +4 more
europepmc   +1 more source

Location of Centromere and Interchange Breakpoints in the Pachytene Chromosome of Rice. : Genetical studies on rice plant, LXXI.

, 1980
Shigetoshi SATO, Toshiro KlNOSHITA, Man-emon Takahashi   +2 more
openalex   +2 more sources

Maintenance of sister-chromatid cohesion at the centromere by the Drosophila MEI-S332 protein [PDF]

, 1998
Tracy Tzu-Ling Tang, Sharon E. Bickel, Lynn Young, Terry L. Orr‐Weaver   +3 more
openalex   +1 more source

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

CENP-A and centromere evolution in equids. [PDF]

Chromosome Res
Cappelletti E, Piras FM, Biundo M, Bellone RR, Finno CJ, Kalbfleisch TS, Petersen JL, Nergadze SG, Giulotto E.   +8 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