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

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

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

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

Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15.

Authors: Burssed B Zamariolli M Favilla BP et al.

Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2023 Feb 24; Vol. 31 (1), pp. 10. Date of Electronic Publication: 2023 Feb 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.

Authors: Favilla BP Burssed B Yamashiro Coelho ÉM et al.

Source: Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (1-2), pp. 46-54. Date of Electronic Publication: 2022 Mar 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.

Authors: Zamariolli M Burssed B Moysés-Oliveira M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 2056-2064. Date of Electronic Publication: 2021 Apr 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Mechanisms of structural chromosomal rearrangement formation.

Authors: Burssed B Zamariolli M Bellucco FT et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2022 Jun 14; Vol. 15 (1), pp. 23. Date of Electronic Publication: 2022 Jun 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE