214 related articles for article (PubMed ID: 36162988)
1. 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]
2. Ocular findings and genetic test in Alström syndrome in childhood.
Wang Y; Huang L; Sun L; Li S; Zhang Z; Zhang T; Lai Y; Ding X
Exp Eye Res; 2022 Dec; 225():109277. PubMed ID: 36206858
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. Alström syndrome: Two clinical cases with two novel pathogenic variants.
Herranz-Heras JC; Barceló A; Quesada-Espinosa JF; Dorado-Lopez-Rosado AM; Tejada-Palacios P; Muñoz-Gallego A
Eur J Ophthalmol; 2023 Jul; 33(4):NP27-NP31. PubMed ID: 36112829
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of ALMS1 gene variants in seven patients with Alström syndrome].
Ding Y; Zhang Q; He Y; Zhang L; Li N; Chang G; Chen Y; Wang J; Wu J; Fu L; Wang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):112-116. PubMed ID: 33565060
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]