Search Results - "Besnard T"

Climatologic Influences on Photovoltaic Production.

Authors: BESNARD, T. GILLOTAY, D. COLLET, M.

Source: International Environmental Technology. Jun2011, Vol. 21 Issue 3, p20-20. 1p. 1 Color Photograph, 1 Graph.

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

Authors: Vuillaume, M.-L. Jeanne, M. Laumonnier, F. et al.

Source: Clinica Chimica Acta. Oct2018, Vol. 485, p218-223. 6p.

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Authors: Chiu, A. T. G. Pei, S. L. C. Mak, C. C. Y. et al.

Source: Clinical Genetics. Apr2018, Vol. 93 Issue 4, p880-890. 12p. 1 Color Photograph, 3 Diagrams, 7 Charts.

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

Authors: Nizon, M. Küry, S. Péréon, Y. et al.

Source: Clinical Genetics. Jan2018, Vol. 93 Issue 1, p169-172. 4p. 1 Color Photograph, 1 Graph.

Audiological findings in 100 USH2 patients.

Authors: Abadie, C Blanchet, C Baux, D et al.

Source: Clinical Genetics. Nov2012, Vol. 82 Issue 5, p433-438. 6p. 1 Diagram, 1 Chart, 2 Graphs.

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

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Authors: Smith E Faundes V Zhao X et al.

Source: Clinical genetics [Clin Genet] 2026 Jul; Vol. 110 (1), pp. 29-35. Date of Electronic Publication: 2026 Mar 06.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Authors: Alabdi L Cogne B Almasood AS et al.

Source: Clinical genetics [Clin Genet] 2026 Jul; Vol. 110 (1), pp. 84-89. Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Authors: Civit A Ronce N Cogné B et al.

Source: Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 231-233. Date of Electronic Publication: 2024 Nov 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Authors: Jury J Benoist JF Joubert M et al.

Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 776-781. Date of Electronic Publication: 2024 Sep 02.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81.

Authors: Le Calvez B Besnard T Cogne B et al.

Source: American journal of hematology [Am J Hematol] 2024 Nov; Vol. 99 (11), pp. 2215-2218. Date of Electronic Publication: 2024 Apr 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

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

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Authors: Bradbrook SM Graham G Carter MT et al.

Corporate Authors: Bradbrook SM Graham G Carter MT et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 244-252. Date of Electronic Publication: 2025 Sep 11.

Publication Type: Case Reports; Journal Article

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

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Authors: Deb W Besnard T Desprez F et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Dec 12. Date of Electronic Publication: 2025 Dec 12.

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

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

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Authors: Sjøstrøm E Studniarczyk D Dou X et al.

Source: Clinical genetics [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 553-565. Date of Electronic Publication: 2025 May 20.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Authors: Rinaldi B Bayat A Zachariassen LG et al.

Source: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Authors: Jury J Besnard T Deb W et al.

Source: Journal of medical genetics [J Med Genet] 2025 Oct 17. Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE