Search Results - "Stuart HM"

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Authors: LaFlamme CW Clarkson C Ibañez K et al.

Source: Genome medicine [Genome Med] 2026 Jul 22. Date of Electronic Publication: 2026 Jul 22.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

Authors: Kabir, Mitra Hartill, Verity Farr III, Gist H. et al.

Source: PLoS Genetics. 2/10/2026, Vol. 22 Issue 2, p1-31. 31p.

Detection of Alport gene variants in children and young people with persistent haematuria.

Authors: Ng NSL Yamamura T Shenoy M et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2025 Mar; Vol. 40 (3), pp. 719-729. Date of Electronic Publication: 2024 Oct 01.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Over half of threatened species require targeted recovery actions to avert human‐induced extinction.

Authors: Bolam, Friederike C Ahumada, Jorge Akçakaya, H Reşit et al.

Source: Frontiers in Ecology & the Environment. Mar2023, Vol. 21 Issue 2, p64-70. 7p.

Seasonal snow depth dataset over flat terrains in the Northern Hemisphere based on ICESat-2 data from 2018 to 2020.

Authors: Feng, Dongdong Che, Tao Wang, Guigang et al.

Source: International Journal of Digital Earth. Dec2025, Vol. 18 Issue 1, p1-22. 22p.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Authors: Beaman GM Lopes FM Hofmann A et al.

Source: Frontiers in genetics [Front Genet] 2022 Jun 23; Vol. 13, pp. 896125. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Clinical characteristics and prognosis of steroid-resistant nephrotic syndrome in children: a multi-center retrospective study.

Authors: Li, Sheng He, Chao Sun, Yu et al.

Source: Italian Journal of Pediatrics. 11/13/2024, Vol. 50 Issue 1, p1-8. 8p.

Genetic podocytopathies.

Authors: Hermle, Tobias Lang, Konrad Milosavljevic, Julian

Source: Medizinische Genetik. Feb2026, Vol. 38 Issue 1, p29-38. 10p.

Angiomotin mutation causes glomerulopathy and renal cysts by upregulating hepatocyte nuclear factor transcriptional activity.

Authors: Zhang, Yaochun Lu, Liangjian Hu, Zhenhua et al.

Source: Clinical & Translational Medicine. Jun2022, Vol. 12 Issue 6, p1-7. 7p.

Molecular mechanisms in podocytopathies: finding suitable targets for a new era of glomerular gene therapy.

Authors: Tavakolidakhrabadi, Nadia Ding, Wen Y Welsh, Gavin I et al.

Source: Clinical Kidney Journal. Jan2026, Vol. 19 Issue 1, p1-19. 19p.

Nephrotic syndrome, skin involvement, and chronic lung disease: Answers.

Authors: Atmis, Bahriye Cevizli, Derya Cagli, Cagla et al.

Source: Pediatric Nephrology. May2023, Vol. 38 Issue 5, p1481-1483. 3p.

Novel mutation patterns in children with steroid-resistant nephrotic syndrome.

Authors: Prasad, Narayan Meyyappan, Jeyakumar Dhanorkar, Manoj et al.

Source: Clinical Kidney Journal. Aug2024, Vol. 17 Issue 8, p1-10. 10p.

Molecular mechanisms of hotspot variants in cytoskeletal β‐actin associated with Baraitser–Winter syndrome.

Authors: Greve, Johannes N. Manstein, Dietmar J.

Source: FEBS Journal. 9/15/2025, Vol. 292 Issue 18, p4898-4917. 20p.

Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.

Authors: Del Valle-Peréz M Mejía-García A Echeverri-López D et al.

Source: Journal of applied genetics [J Appl Genet] 2025 Sep; Vol. 66 (3), pp. 637-646. Date of Electronic Publication: 2024 Aug 16.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE

Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.

Authors: Cheng, Xueting Chen, Jiahuan Yang, Xueying et al.

Source: Italian Journal of Pediatrics. 4/23/2024, Vol. 50 Issue 1, p1-14. 14p.

Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.

Authors: Fahlevi R Trihono PP Muktiarti D et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Early diagnosis and intervention in congenital lower urinary tract obstruction: time to revise our approach?

Authors: Mulder J Kohl S Fontanella F et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2026 Jul; Vol. 41 (7), pp. 1937-1950. Date of Electronic Publication: 2025 Nov 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome — implications for resource-constrained settings.

Authors: Kaur, Anit Banday, Aaqib Zaffar Dawman, Lesa et al.

Source: Pediatric Nephrology. Nov2023, Vol. 38 Issue 11, p3663-3670. 8p. 1 Chart.

Identification of a basement membrane-related genes signature with immune correlation in bladder urothelial carcinoma and verification in vitro.

Authors: Li, Yanze Xu, Kai Zhang, Ye et al.

Source: BMC Cancer. 10/23/2023, Vol. 23 Issue 1, p1-15. 15p.