166 related articles for article (PubMed ID: 36927560)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
Minton JA; Owen KR; Ricketts CJ; Crabtree N; Shaikh G; Ehtisham S; Porter JR; Carey C; Hodge D; Paisey R; Walker M; Barrett TG
J Clin Endocrinol Metab; 2006 Aug; 91(8):3110-6. PubMed ID: 16720663
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. [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]
17. 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]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]