BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

384 related articles for article (PubMed ID: 25846608)

  • 1. Alström Syndrome: Mutation Spectrum of ALMS1.
    Marshall JD; Muller J; Collin GB; Milan G; Kingsmore SF; Dinwiddie D; Farrow EG; Miller NA; Favaretto F; Maffei P; Dollfus H; Vettor R; Naggert JK
    Hum Mutat; 2015 Jul; 36(7):660-8. PubMed ID: 25846608
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
    Ozantürk A; Marshall JD; Collin GB; Düzenli S; Marshall RP; Candan Ş; Tos T; Esen İ; Taşkesen M; Çayır A; Öztürk Ş; Üstün İ; Ataman E; Karaca E; Özdemir TR; Erol İ; Eroğlu FK; Torun D; Parıltay E; Yılmaz-Güleç E; Karaca E; Atabek ME; Elçioğlu N; Satman İ; Möller C; Muller J; Naggert JK; Özgül RK
    J Hum Genet; 2015 Jan; 60(1):1-9. PubMed ID: 25296579
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel ALMS1 mutations in Chinese patients with Alström syndrome.
    Liang X; Li H; Li H; Xu F; Dong F; Sui R
    Mol Vis; 2013; 19():1885-91. PubMed ID: 24049434
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.
    Torkamandi S; Rezaei S; Mirfakhraei R; Askari M; Piltan S; Gholami M
    Gene; 2020 Feb; 727():144228. PubMed ID: 31669637
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
    Yang L; Li Z; Mei M; Fan X; Zhan G; Wang H; Huang G; Wang M; Tian W; Zhou W
    BMC Med Genet; 2017 Jul; 18(1):75. PubMed ID: 28724398
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of
    Yang HJ; Li D; Bai HL; Zhang M; Huang J; Yuan XQ
    Yi Chuan; 2022 Dec; 44(12):1148-1157. PubMed ID: 36927560
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
    Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
    Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Novel Alu retrotransposon insertion leading to Alström syndrome.
    Taşkesen M; Collin GB; Evsikov AV; Güzel A; Özgül RK; Marshall JD; Naggert JK
    Hum Genet; 2012 Mar; 131(3):407-13. PubMed ID: 21877133
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
    Zhao Y; Wang LK; Eskin A; Kang X; Fajardo VM; Mehta Z; Pineles S; Schmidt RJ; Nagiel A; Satou G; Garg M; Federman M; Reardon LC; Lee SL; Biniwale R; Grody WW; Halnon N; Khanlou N; Quintero-Rivera F; Alejos JC; Nakano A; Fishbein GA; Van Arsdell GS; Nelson SF; Touma M
    J Mol Med (Berl); 2021 Nov; 99(11):1623-1638. PubMed ID: 34387706
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.
    Zulato E; Favaretto F; Veronese C; Campanaro S; Marshall JD; Romano S; Cabrelle A; Collin GB; Zavan B; Belloni AS; Rampazzo E; Naggert JK; Abatangelo G; Sicolo N; Maffei P; Milan G; Vettor R
    PLoS One; 2011 Apr; 6(4):e19081. PubMed ID: 21541333
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.
    Zhou C; Xiao Y; Xie H; Liu S; Wang J
    Mol Med Rep; 2020 Oct; 22(4):3271-3276. PubMed ID: 32945434
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
    Waldman M; Han JC; Reyes-Capo DP; Bryant J; Carson KA; Turkbey B; Choyke P; Naggert JK; Gahl WA; Marshall JD; Gunay-Aygun M
    Mol Genet Metab; 2018 Sep; 125(1-2):181-191. PubMed ID: 30064963
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
    Hearn T
    J Mol Med (Berl); 2019 Jan; 97(1):1-17. PubMed ID: 30421101
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.