225 related articles for article (PubMed ID: 24049434)
1. 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]
2. 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]
3. 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]
4. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
Katagiri S; Yoshitake K; Akahori M; Hayashi T; Furuno M; Nishino J; Ikeo K; Tsuneoka H; Iwata T
Mol Vis; 2013; 19():2393-406. PubMed ID: 24319333
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Piñeiro-Gallego T; Cortón M; Ayuso C; Baiget M; Valverde D
Mol Vis; 2012; 18():1794-802. PubMed ID: 22876109
[TBL] [Abstract][Full Text] [Related]
17. Alström Syndrome with Early Vision and Hearing Impairement.
Beqiri-Jashari A; Janchevska A; Ahmeti I; Doksimovski F; Cipanovska M; Teov B; Stefanovska ES; Plaseska-Karanfilska D; Gucev Z
Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2022 Jul; 43(2):159-162. PubMed ID: 35843912
[TBL] [Abstract][Full Text] [Related]
18. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.
Laxer C; Rahman SA; Sherif M; Tahir S; Cayir A; Demirbilek H; Hussain K
J Pediatr Endocrinol Metab; 2016 May; 29(5):585-9. PubMed ID: 26910739
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
Zou X; Yao F; Liang X; Xu F; Li H; Sui R; Dong F
Ophthalmic Genet; 2015 Mar; 36(1):21-6. PubMed ID: 24001014
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
