147 related articles for article (PubMed ID: 36537469)
21. Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.
Dassie F; Favaretto F; Bettini S; Parolin M; Valenti M; Reschke F; Danne T; Vettor R; Milan G; Maffei P
Endocrine; 2021 Mar; 71(3):618-625. PubMed ID: 33566311
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Rethanavelu K; Fung JLF; Chau JFT; Pei SLC; Chung CCY; Mak CCY; Luk HM; Chung BHY
Am J Med Genet A; 2020 Feb; 182(2):279-288. PubMed ID: 31755649
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. [Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome].
Bai Z; Li G; Wu Q; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1124-1127. PubMed ID: 37643959
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Identification of
Huang L; Guo M; Zhou Y; Liang T; Li N
Ophthalmic Genet; 2022 Aug; 43(4):573-575. PubMed ID: 35786123
[No Abstract] [Full Text] [Related]
27. Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H; Yu H; Zhang R; Peng D; Yan D; Gu Y; Bao Y; Jia W; Zhang H; Hu C
J Mol Cell Biol; 2023 Nov; 15(6):. PubMed ID: 37327085
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Rare Compound Heterozygous Frameshift Mutations in
Tsai MC; Yu HW; Liu T; Chou YY; Chiou YY; Chen PC
Front Genet; 2018; 9():110. PubMed ID: 29720996
[TBL] [Abstract][Full Text] [Related]
31. Diabetes in the young - a case of Alström syndrome with myopathy.
Bronson SC; Anand Moses CR; Periyandavar I; Dharmarajan P; Suresh E; Shanmugam A; Vasuki R; Venkatesh D; Amudha J
J R Coll Physicians Edinb; 2015 Mar; 45(1):33-7. PubMed ID: 25874828
[TBL] [Abstract][Full Text] [Related]
32. Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.
Long PA; Evans JM; Olson TM
Am J Med Genet A; 2015 Apr; 167A(4):886-90. PubMed ID: 25706677
[TBL] [Abstract][Full Text] [Related]
33. Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.
Weiss S; Cohen L; Ben-Yosef T; Ehrenberg M; Goldenberg-Cohen N
Ophthalmic Genet; 2019 Feb; 40(1):7-11. PubMed ID: 30600744
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Abosabie SAS; Abosabie SA; Alfaifi J; Alqahtani YA; Shati AA; Alotaibi NA; Alghamdi OA; Alotaibi GN; Baabdullah AA; Kabrah LK; Kamal NM; Oshi MAM; Abdallah EAA
Mol Genet Genomic Med; 2024 Jan; 12(1):e2314. PubMed ID: 37937857
[TBL] [Abstract][Full Text] [Related]
36. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.
Casey J; McGettigan P; Brosnahan D; Curtis E; Treacy E; Ennis S; Lynch SA
Eur J Med Genet; 2014 Feb; 57(2-3):55-9. PubMed ID: 24503146
[TBL] [Abstract][Full Text] [Related]
37. Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.
Mihai CM; Catrinoiu D; Marshall J; Stoicescu R; Tofolean IT
J Med Life; 2008; 1(3):254-61. PubMed ID: 20108502
[TBL] [Abstract][Full Text] [Related]
38. Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
Kuburović V; Marshall JD; Collin GB; Nykamp K; Kuburović N; Milenković T; Rakić S; Djuric M; Ječmenica J; Milenković S; Naggert JK
Clin Dysmorphol; 2013 Jan; 22(1):7-12. PubMed ID: 23188138
[TBL] [Abstract][Full Text] [Related]
39. Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
Nesmith JE; Hostelley TL; Leitch CC; Matern MS; Sethna S; McFarland R; Lodh S; Westlake CJ; Hertzano R; Ahmed ZM; Zaghloul NA
Hum Mol Genet; 2019 Jul; 28(13):2212-2223. PubMed ID: 31220269
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
