Search Results - "Besnard T"

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Authors: Küry S Stanton JE van Woerden GM et al.

Source: Nature communications [Nat Commun] 2025 Nov 26; Vol. 16 (1), pp. 10545. Date of Electronic Publication: 2025 Nov 26.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Perioperative Coagulation Dynamics Assessed by ROTEM and Conventional Assays: A Prospective Longitudinal Study with Focus on Fibrinogen in Major Non-Cardiac Surgery.

Authors: Hosala, Michal Osinova, Denisa Sukenik, Matej et al.

Source: Journal of Clinical Medicine. Jun2026, Vol. 15 Issue 11, p4264. 12p.

Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment.

Authors: Parmar, Aditya Srinivasan, Anjali Krockenberger, Lena et al.

Source: PLoS Genetics. 9/29/2025, Vol. 21 Issue 9, p1-34. 34p.

Ciliary Beat Frequency and Pattern: An Accessible Tool for the Screening of Primary Ciliary Dyskinesia.

Authors: Kaspi, Elise Mazenq, Julie Pagin, Adrien et al.

Source: Diagnostics (2075-4418). Mar2026, Vol. 16 Issue 5, p704. 12p.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Authors: Leitão E Santini A Cogne B et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 782-797. Date of Electronic Publication: 2026 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart Defects.

Authors: Damnjanovic, Tatjana Maksimovic, Nela Djuranovic Uklein, Ana et al.

Source: Cardiogenetics. Jun2026, Vol. 16 Issue 2, p13. 18p.

Author index.

Source: Fundamental & Clinical Pharmacology. Jun2008 Supplement, Vol. 22, p103-116. 14p.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Authors: Uguen K Bergot T Scott-Boyer MP et al.

Source: Nature communications [Nat Commun] 2026 Jan 23; Vol. 17 (1), pp. 1569. Date of Electronic Publication: 2026 Jan 23.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Authors: Cuinat S Rouaud T Besnard T et al.

Source: Neurogenetics [Neurogenetics] 2026 Jan 08; Vol. 27 (1), pp. 6. Date of Electronic Publication: 2026 Jan 08.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Authors: Bou-Rouphael J Cospain A Courtin T et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2605-2624. Date of Electronic Publication: 2025 Sep 22.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Authors: Buisine MP Bellanne-Chantelot C Calmels N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1219-1227. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study.

Authors: Ølnes, Åsa Schawlann Teigen, Marianne Strøm, Thea Bismo et al.

Source: PLoS ONE. 4/20/2026, Vol. 21 Issue 4, p1-18. 18p.

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

Authors: Camarillo-Benitez, Saul Mendez-Catala, Claudia Fabiola Chima-Galan, Maria del Carmen et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 4, p1891. 22p.

GWAS and 3D chromatin mapping identifies multicancer risk genes associated with hormone-dependent cancers.

Authors: Rivera, Isela Sarahi French, Juliet D. Bitar, Mainá et al.

Source: PLoS Genetics. 11/25/2024, Vol. 20 Issue 11, p1-14. 14p.

RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing Patterns.

Authors: Sebai, Molka Tang, Roseline Adnani, Yahia et al.

Source: Cancers. Oct2025, Vol. 17 Issue 20, p3320. 15p.

A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.

Authors: Farr III, Gist H. Reid, Whitaker Hasegawa, Eva H. et al.

Source: PLoS Genetics. 8/26/2025, Vol. 21 Issue 8, p1-26. 26p.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Authors: Leitão E Santini A Cogne B et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Sep 04. Date of Electronic Publication: 2025 Sep 04.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Authors: Vignard V Maillasson M Bigot A et al.

Source: EBioMedicine [EBioMedicine] 2025 Sep; Vol. 119, pp. 105864. Date of Electronic Publication: 2025 Aug 20.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Proteome Profiling of Rabies-Infected and Uninfected Dog Brain Tissues, Cerebrospinal Fluids and Serum Samples.

Authors: Eze, Ukamaka U. Mokoena, Rethabile Ogbu, Kenneth I. et al.

Source: Proteomes. Dec2025, Vol. 13 Issue 4, p66. 22p.

Postoperative Blood Pressure Does Not Affect Lactate Clearance in Cardiac Surgery: A Retrospective Observational Cohort Study.

Authors: Hall, James Elkomos-Botros, George Khilkin, Michael

Source: Surgeries (2673-4095). Dec2025, Vol. 6 Issue 4, p112. 8p.