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Items: 1 to 20 of 181


Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.

Kamal NM, Sahly AN, Banaganapalli B, Rashidi OM, Shetty PJ, Al-Aama JY, Shaik NA, Elango R, Saadah OI.

Saudi J Biol Sci. 2020 Jan;27(1):271-278. doi: 10.1016/j.sjbs.2019.09.006. Epub 2019 Sep 11.


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 7;19(1):246. doi: 10.1186/s12886-019-1259-y.


Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Rethanavelu K, Fung JLF, Chau JFT, Pei SLC, Chung CCY, Mak CCY, Luk HM, Chung BHY.

Am J Med Genet A. 2020 Feb;182(2):279-288. doi: 10.1002/ajmg.a.61412. Epub 2019 Nov 22.


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 15;727:144228. doi: 10.1016/j.gene.2019.144228. Epub 2019 Oct 26.


Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.

Lodh S.

Yale J Biol Med. 2019 Sep 20;92(3):471-480. eCollection 2019 Sep. Review.


Prognostic 4-lncRNA-based risk model predicts survival time of patients with head and neck squamous cell carcinoma.

Xing L, Zhang X, Chen A.

Oncol Lett. 2019 Sep;18(3):3304-3316. doi: 10.3892/ol.2019.10670. Epub 2019 Jul 26.


Identification of alternative splicing and lncRNA genes in pathogenesis of small cell lung cancer based on their RNA sequencing.

Lei Y, Shi Y, Duan J, Liu Y, Lv G, Shi R, Zhang F, Yang Q, Zhao W.

Adv Clin Exp Med. 2019 Aug;28(8):1043-1050. doi: 10.17219/acem/94392.


Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.

Nesmith JE, Hostelley TL, Leitch CC, Matern MS, Sethna S, McFarland R, Lodh S, Westlake CJ, Hertzano R, Ahmed ZM, Zaghloul NA.

Hum Mol Genet. 2019 Jul 1;28(13):2212-2223. doi: 10.1093/hmg/ddz053.


Alström Syndrome.

Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Feb 7 [updated 2019 Jun 13].


Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Rodríguez-Contreras FJ, Marbán-Calzón M, Vallespín E, Del Pozo Á, Solís-López M, Lobato-Vidal N, Fernández-Elvira M, Del Valle Rex-Romero M, Heath KE, González-Casado I, Campos-Barros Á.

Am J Med Genet A. 2019 Aug;179(8):1591-1597. doi: 10.1002/ajmg.a.61201. Epub 2019 May 23.


Bone marrow-derived macrophage contributes to fibrosing steatohepatitis through activating hepatic stellate cells.

Han J, Zhang X, Lau JK, Fu K, Lau HC, Xu W, Chu ES, Lan H, Yu J.

J Pathol. 2019 Aug;248(4):488-500. doi: 10.1002/path.5275. Epub 2019 May 7.


Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.

Weiss S, Cohen L, Ben-Yosef T, Ehrenberg M, Goldenberg-Cohen N.

Ophthalmic Genet. 2019 Feb;40(1):7-11. doi: 10.1080/13816810.2018.1561900. Epub 2019 Jan 2.


Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.

Aldrees A, Abdelkader E, Al-Habboubi H, Alrwebah H, Rahbeeni Z, Schatz P.

Ophthalmic Genet. 2019 Feb;40(1):77-79. doi: 10.1080/13816810.2018.1551495. Epub 2018 Nov 29. No abstract available.


Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.

Nerakh G, Ranganath P.

Indian J Pediatr. 2019 Mar;86(3):296-298. doi: 10.1007/s12098-018-2807-9. Epub 2018 Nov 28.


Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.

Baig S, Veeranna V, Bolton S, Edwards N, Tomlinson JW, Manolopoulos K, Moran J, Steeds RP, Geberhiwot T.

BMC Endocr Disord. 2018 Nov 26;18(1):88. doi: 10.1186/s12902-018-0315-6.


ALMS1-NKCC2 interactions.

Allison SJ.

Nat Rev Nephrol. 2019 Feb;15(2):62. doi: 10.1038/s41581-018-0084-5. No abstract available.


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. doi: 10.1007/s00109-018-1714-x. Epub 2018 Nov 12. Review.


Role of Alström syndrome 1 in the regulation of blood pressure and renal function.

Jaykumar AB, Caceres PS, King-Medina KN, Liao TD, Datta I, Maskey D, Naggert JK, Mendez M, Beierwaltes WH, Ortiz PA.

JCI Insight. 2018 Nov 2;3(21). pii: 95076. doi: 10.1172/jci.insight.95076.


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. doi: 10.5935/0004-2749.20180102. Epub 2018 Oct 11.


Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.

Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2018 Oct 4.

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