Search Results - "Sharp LN"

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.

Authors: Murray Leech J Arni AM Chundru VK et al.

Source: Diabetologia [Diabetologia] 2026 Jul; Vol. 69 (7), pp. 1951-1961. Date of Electronic Publication: 2026 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

Age-based risk estimates for C9orf72^RE-related diseases: Theoretical developments and added value for genetic counseling.

Authors: de Vienne, Dominique de Vienne, Damien M.

Source: PLoS Genetics. 7/13/2026, Vol. 22 Issue 7, p1-11. 11p.

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.

Authors: Sharp LN Colclough K Murray Leech J et al.

Source: EBioMedicine [EBioMedicine] 2026 May; Vol. 127, pp. 106255. Date of Electronic Publication: 2026 Apr 18.

Publication Type: Journal Article; Observational Study

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

Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.

Authors: Zagaroli, Luca Di Berardino, Alessio Petragnano, Francesco et al.

Source: Diabetes Therapy. Jul2026, Vol. 17 Issue 7, p959-983. 25p.

Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

Authors: Kentistou KA Lim BEM Kaisinger LR et al.

Source: Nature communications [Nat Commun] 2025 Jan 14; Vol. 16 (1), pp. 648. Date of Electronic Publication: 2025 Jan 14.

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

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.

Authors: Murray Leech J Beaumont RN Arni AM et al.

Source: Nature metabolism [Nat Metab] 2025 Sep; Vol. 7 (9), pp. 1819-1829. Date of Electronic Publication: 2025 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature Country of Publication: Germany NLM ID: 101736592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2522-5812 (Electronic) Linking ISSN: 25225812 NLM ISO Abbreviation: Nat Metab Subsets: MEDLINE

Polygenic scores as modifiers in Mendelian diseases.

Authors: Schmidt, Axel Ludwig, Kerstin U. Heyne, Henrike O.

Source: Medizinische Genetik. Jul2026, Vol. 38 Issue 3, p231-239. 9p.

Revisiting penetrance in an era of genomic screening.

Authors: Jackson L Wright CF

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr 21. Date of Electronic Publication: 2026 Apr 21.

Publication Type: Journal Article

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

The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.

Authors: Giannopoulou EZ Moawia A Högel J et al.

Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2026 Apr 10; Vol. 13 (1). Date of Electronic Publication: 2026 Apr 10.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Authors: Pagnamenta AT Fasham J Beaumont RN et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 12. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article

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 spectrum and treatment implications of maturity-onset diabetes of the young in the eastern Black Sea region of Türkiye: a combined adult and pediatric cohort of 296 patients with identification of rare and novel variants.

Authors: Doğan Ç Andaç B Navdar Başaran M et al.

Source: Molecular biology reports [Mol Biol Rep] 2026 Jul 18; Vol. 53 (1). Date of Electronic Publication: 2026 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.

Authors: Aydogan C Kanca-Demirci D Gul N et al.

Source: Journal of endocrinological investigation [J Endocrinol Invest] 2026 Jun; Vol. 49 (6), pp. 1421-1431. Date of Electronic Publication: 2026 Feb 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.

Authors: Silva Rodriguez, Maël Mulot, Margaux Chéry, Céline et al.

Source: Hepatology Research. Jul2025, Vol. 55 Issue 7, p1075-1092. 18p.

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).

Authors: Dubois-Laforgue D Donadille B Ciangura C et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 31; Vol. 17 (Suppl 1). Date of Electronic Publication: 2026 Mar 31.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Early gestational prediction of spontaneous preterm birth using a validated three-protein serum biomarker panel.

Authors: Luo Q Wei J Ding Y et al.

Source: BMC medicine [BMC Med] 2026 Feb 02; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 02.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE

Current Development of Lanthanide Complexes for Biomedical Applications.

Authors: Wang, Mengfei Kitagawa, Yuichi Hasegawa, Yasuchika

Source: Chemistry - An Asian Journal. 4/2/2024, Vol. 19 Issue 7, p1-12. 12p.

Diabetes UK 2024 Author Index.

Source: Diabetic medicine: a journal of the British Diabetic Association Apr2024 Supplement 1; Vol. 41.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0742-3071

Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing.

Authors: Chun-Kan Chen Blanco, Mario Jackson, Constanza et al.

Source: Science (pre-March 2025). 10/28/2016, Vol. 354 Issue 6311, p468-472. 5p. 4 Graphs.

Predictors of malignancy in EUS-guided FNA for mediastinal lymphadenopathy in patients without history of lung cancer.

Authors: Luz, Leticia P. Moreira, Daniel M. Khan, Mahboob et al.

Source: Annals of Thoracic Medicine. Jul-Sep2011, Vol. 6 Issue 3, p126-130. 5p. 3 Color Photographs, 5 Charts, 1 Graph.