201 related articles for article (PubMed ID: 32944671)
1. Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.
Etheridge T; Kellom ER; Sullivan R; Ver Hoeve JN; Schmitt MA
Am J Ophthalmol Case Rep; 2020 Dec; 20():100873. PubMed ID: 32944671
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.
Yen B; Ciftci MD; Afrashi F; Onay H; Goksen D
Retin Cases Brief Rep; 2024 Apr; ():. PubMed ID: 38569205
[TBL] [Abstract][Full Text] [Related]
4. Alström syndrome--a case report and literature review.
Karska-Basta I; Kubicka-Trzaska A; Filemonowicz-Skoczek A; Romanowska-Dixon B; Kobylarz J
Klin Oczna; 2008; 110(4-6):188-92. PubMed ID: 18655459
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature.
Konstantinou EK; Shaikh N; Ramsey DJ
Ophthalmic Genet; 2023 Apr; 44(2):175-181. PubMed ID: 34353225
[TBL] [Abstract][Full Text] [Related]
7. A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
Racine J; Golden R
Doc Ophthalmol; 2021 Aug; 143(1):75-83. PubMed ID: 33548032
[TBL] [Abstract][Full Text] [Related]
8. Retinal dysfunction in a presymptomatic patient with Huntington's disease.
Knapp J; VanNasdale DA; Ramsey K; Racine J
Doc Ophthalmol; 2018 Jun; 136(3):213-221. PubMed ID: 29691705
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in
Chang MY; Borchert MS; Schmidt R; Nagiel A
Am J Ophthalmol Case Rep; 2022 Jun; 26():101506. PubMed ID: 35355858
[TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report.
Liu Z; Chen X
Transl Pediatr; 2022 Apr; 11(4):589-594. PubMed ID: 35558979
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in
Mauring L; Porter LF; Pelletier V; Riehm A; Leuvrey AS; Gouronc A; Studer F; Stoetzel C; Dollfus H; Muller J
Front Genet; 2020; 11():938. PubMed ID: 32973878
[TBL] [Abstract][Full Text] [Related]
15. Morphological and functional findings in Alström syndrome: a study of two families.
Castro ÁBBS; Coronado BNL; Costa RHA; Chalita MR; Cella WP; Avila MP
Arq Bras Oftalmol; 2018 Nov./Dec.; 81(6):524-528. PubMed ID: 30328943
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Coronary artery disease in Alström syndrome.
Jatti K; Paisey R; More R
Eur J Hum Genet; 2012 Jan; 20(1):117-8. PubMed ID: 21897446
[TBL] [Abstract][Full Text] [Related]
19. [Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications].
Mendioroz J; Bermejo E; Marshall JD; Naggert JK; Collin GB; Martínez-Frías ML
Med Clin (Barc); 2008 Nov; 131(19):741-6. PubMed ID: 19091203
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]