These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome. Taşdemir S; Güzel-Ozantürk A; Marshall JD; Collin GB; Ozgül RK; Narin N; Dündar M; Naggert JK Clin Genet; 2013 Jan; 83(1):96-8. PubMed ID: 22533542 [No Abstract] [Full Text] [Related]
24. Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model. Patel L; Roy A; Barlow J; O'Shea C; Nieves D; Azad AJ; Hall C; Davies B; Rath P; Pavlovic D; Chikermane A; Geberhiwot T; Steeds RP; Gehmlich K Mol Genet Metab; 2024; 143(1-2):108575. PubMed ID: 39243575 [TBL] [Abstract][Full Text] [Related]
25. Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. Ye Y; Wang X; Li G; Xiao X; Ji X J Int Med Res; 2023 Jul; 51(7):3000605231184100. PubMed ID: 37439038 [TBL] [Abstract][Full Text] [Related]
26. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. Shurygina MF; Parker MA; Schlechter CL; Chen R; Li Y; Weleber RG; Yang P; Pennesi ME BMC Ophthalmol; 2019 Dec; 19(1):246. PubMed ID: 31810438 [TBL] [Abstract][Full Text] [Related]
27. Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome. Liu L; Dong B; Chen X; Li J; Li Y Eye (Lond); 2009 May; 23(5):1210-2. PubMed ID: 18654604 [TBL] [Abstract][Full Text] [Related]
28. Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome. Wang C; Luo X; Wang Y; Liu Z; Wu S; Wang S; Lan X; Xu Q; Xu W; Yuan F; Wang A; Zeng F; Jia J; Chen Y Intern Med; 2021 Dec; 60(23):3721-3728. PubMed ID: 34148947 [TBL] [Abstract][Full Text] [Related]
29. Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report. Jiang P; Xiao L; Guo Y; Hu R; Zhang BY; He Y World J Clin Cases; 2022 Mar; 10(7):2330-2335. PubMed ID: 35321175 [TBL] [Abstract][Full Text] [Related]
30. New variants of ALMS1 gene and familial Alström syndrome case series. Queiroz IC; Carasek N; Ferreira LCV; Oliveira LAT; Correia FM; Elias TGA; Bahmad F Braz J Otorhinolaryngol; 2024; 90(3):101402. PubMed ID: 38428329 [TBL] [Abstract][Full Text] [Related]
31. A very early diagnosis of Alstrӧm syndrome by next generation sequencing. Gatticchi L; Miertus J; Maltese PE; Bressan S; De Antoni L; Podracká L; Piteková L; Rísová V; Mällo M; Jaakson K; Joost K; Colombo L; Bertelli M BMC Med Genet; 2020 Sep; 21(1):173. PubMed ID: 32867697 [TBL] [Abstract][Full Text] [Related]
32. Five novel ALMS1 gene mutations in six patients with Alström syndrome. Kılınç S; Yücel-Yılmaz D; Ardagil A; Apaydın S; Valverde D; Özgül RK; Güven A J Pediatr Endocrinol Metab; 2018 Jun; 31(6):681-687. PubMed ID: 29715191 [TBL] [Abstract][Full Text] [Related]
33. Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes. Bakar AA; Kamal NM; Alsaedi A; Turkistani R; Aldosari D Medicine (Baltimore); 2017 Mar; 96(10):e6192. PubMed ID: 28272210 [TBL] [Abstract][Full Text] [Related]
34. Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report. Rossoni L; Lugani F; Orsi SM; Verrina EE; Ghiggeri GM; Angeletti A; Caridi G; La Porta E Nephron; 2024; 148(5):345-348. PubMed ID: 36746137 [TBL] [Abstract][Full Text] [Related]
35. Alström syndrome with acanthosis nigricans: a case report and literature review. Akdeniz N; Bilgili SG; Aktar S; Yuca S; Calka O; Kilic A; Kosem M Genet Couns; 2011; 22(4):393-400. PubMed ID: 22303800 [TBL] [Abstract][Full Text] [Related]
36. Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. Hu M; Chen S; Wu J; Wang R BMC Pediatr; 2024 Aug; 24(1):494. PubMed ID: 39095761 [TBL] [Abstract][Full Text] [Related]
37. New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome. Cheng WY; Ma MJ; Yuan SQ; Qi XL; Rong WN; Sheng XL BMC Ophthalmol; 2022 Sep; 22(1):386. PubMed ID: 36162988 [TBL] [Abstract][Full Text] [Related]
39. Caloric restriction in Alström syndrome prevents hyperinsulinemia. Lee NC; Marshall JD; Collin GB; Naggert JK; Chien YH; Tsai WY; Hwu WL Am J Med Genet A; 2009 Feb; 149A(4):666-8. PubMed ID: 19283853 [TBL] [Abstract][Full Text] [Related]
40. Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. Chakroun A; Ben Said M; Ennouri A; Achour I; Mnif M; Abid M; Ghorbel A; Marshall JD; Naggert JK; Masmoudi S Eur J Med Genet; 2016 Sep; 59(9):444-51. PubMed ID: 27523285 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]