Search Results - "Burssed B"

Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretation.

Authors: Burssed B Oliveira ARCP Bellucco FT et al.

Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2026 Jul 20; Vol. 34 (1). Date of Electronic Publication: 2026 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9313452 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6849 (Electronic) Linking ISSN: 09673849 NLM ISO Abbreviation: Chromosome Res Subsets: MEDLINE

Phenotypic Spectrum in Three Romanian Patients with 8q23–q24 Deletions.

Authors: Caramizaru, Alexandru Streata, Ioana Pirvu, Andrei et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 3, p1249. 10p.

Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.

Authors: Burssed B Zamariolli M Favilla BP et al.

Source: Molecular syndromology [Mol Syndromol] 2026 Mar 26. Date of Electronic Publication: 2026 Mar 26.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol

ALK Knock-In Reporter Reveals APE1 as a Negative Regulator of EML4-ALK Formation.

Authors: Murashko, Matvey M. Stasevich, Ekaterina M. Korneev, Kirill V. et al.

Source: International Journal of Molecular Sciences. Jul2026, Vol. 27 Issue 13, p5676. 15p.

Cancer mutations in RAD51 and its paralogues.

Authors: Valentine, Anna L. Huth, Isabella L. Duff, Nika M. et al.

Source: PLoS ONE. 5/14/2026, Vol. 21 Issue 5, p1-16. 16p.

Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.

Authors: Chong ML Burssed B Zhao C et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Nov 19; Vol. 4, pp. 103475. Date of Electronic Publication: 2025 Nov 19 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation‐Dependent Probe Amplification.

Authors: Aguayo‐Orozco, Thania Alejandra Rivera, Horacio Figuera, Luis E. et al.

Source: Molecular Genetics & Genomic Medicine. Nov2025, Vol. 13 Issue 11, p1-9. 9p.

Template switching between the leading and lagging strands at replication forks generates inverted copy number variants through hairpin-capped extrachromosomal DNA.

Authors: Martin, Rebecca Espinoza, Claudia Y. Large, Christopher R. L. et al.

Source: PLoS Genetics. 1/4/2024, Vol. 20 Issue 1, p1-27. 27p.

Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats.

Authors: Guo, Jiazhong Huang, Qingsi Xiang, Qiunan et al.

Source: BMC Genomics. 9/29/2025, Vol. 26 Issue 1, p1-10. 10p.

Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.

Authors: Czakó, Márta Szabó, András Till, Ágnes et al.

Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 18, p8886. 16p.

Cytogenomic characterization of karyotypes with additional autosomal material.

Authors: Rodrigues PS Burssed B Bellucco F et al.

Source: Scientific reports [Sci Rep] 2025 Apr 09; Vol. 15 (1), pp. 12191. Date of Electronic Publication: 2025 Apr 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Tumor evolution: signaling pathways, molecular mechanisms and therapeutic targets.

Authors: Zhang KY Zhu XZ Yan YX et al.

Source: Signal transduction and targeted therapy [Signal Transduct Target Ther] 2026 Jul 20; Vol. 11 (1). Date of Electronic Publication: 2026 Jul 20.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101676423 Publication Model: Electronic Cited Medium: Internet ISSN: 2059-3635 (Electronic) Linking ISSN: 20593635 NLM ISO Abbreviation: Signal Transduct Target Ther Subsets: MEDLINE

A FAM8A1 frameshift variant is associated with REM sleep behavior disorder, urinary retention, and mydriasis in Russian Blue cats.

Authors: Stee, Kimberley Van Poucke, Mario Huguet, Jaume Alomar et al.

Source: Animal Genetics. Jun2025, Vol. 56 Issue 3, p1-9. 9p.

Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.

Authors: Yang, Jingxin Liu, Chao Geng, Qian et al.

Source: Fetal & Pediatric Pathology. Mar/Apr2025, Vol. 44 Issue 2, p157-165. 9p.

ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation.

Authors: Xia, Xin Song, Wenjie Zhang, Fuyu et al.

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1297. 18p.

Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.

Authors: Xing, Xiao‐Liang Zeng, Ziqiang Wang, Yana et al.

Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-11. 11p.

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation.

Authors: Zhang, Qinxin Wang, Yan Zhou, Jing et al.

Source: Molecular Genetics & Genomic Medicine. Oct2023, Vol. 11 Issue 10, p1-12. 12p.

A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.

Authors: Berkay, Ezgi Gizem Karaman, Birsen Başaran, Seher

Source: Systems Biology in Reproductive Medicine. Oct2023, Vol. 69 Issue 5, p387-393. 7p.

Tandem and inverted duplications in haemophilia A: Breakpoint characterisation provides insight into possible rearrangement mechanisms.

Authors: Li, Yang Ding, Biying Mao, Yinqi et al.

Source: Haemophilia. Jul2023, Vol. 29 Issue 4, p1121-1134. 14p. 6 Diagrams, 1 Chart.

Chromoplexy: A Pathway to Genomic Complexity and Cancer Development.

Authors: Pellestor, Franck Ganne, Benjamin Gaillard, Jean Baptiste et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 8, p3826. 14p.