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Items: 1 to 20 of 59

1.

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK.

Mol Genet Genomic Med. 2017 May 15;5(4):390-404. doi: 10.1002/mgg3.296. eCollection 2017 Jul.

2.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Brofferio A, Sachdev V, Hannoush H, Marshall JD, Naggert JK, Sidenko S, Noreuil A, Sirajuddin A, Bryant J, Han JC, Arai AE, Gahl WA, Gunay-Aygun M.

Mol Genet Metab. 2017 Aug;121(4):336-343. doi: 10.1016/j.ymgme.2017.05.017. Epub 2017 May 30.

PMID:
28610912
3.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Lindsey S, Brewer C, Stakhovskaya O, Kim HJ, Zalewski C, Bryant J, King KA, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M.

Am J Med Genet A. 2017 Aug;173(8):2210-2218. doi: 10.1002/ajmg.a.38316. Epub 2017 Jun 1.

PMID:
28573831
4.

Proteomic profiling of human intraschisis cavity fluid.

Sudha D, Kohansal-Nodehi M, Kovuri P, Manda SS, Neriyanuri S, Gopal L, Bhende P, Chidambaram S, Arunachalam JP.

Clin Proteomics. 2017 Apr 24;14:13. doi: 10.1186/s12014-017-9148-y. eCollection 2017.

5.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

6.

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.

Braune K, Volkmer I, Staege MS.

PLoS One. 2017 Jan 30;12(1):e0170694. doi: 10.1371/journal.pone.0170694. eCollection 2017.

7.

Ciliopathies.

Braun DA, Hildebrandt F.

Cold Spring Harb Perspect Biol. 2017 Mar 1;9(3). pii: a028191. doi: 10.1101/cshperspect.a028191. Review.

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. doi: 10.1016/j.ejmg.2016.08.004. Epub 2016 Aug 12.

9.

Primary cilia in energy balance signaling and metabolic disorder.

Lee H, Song J, Jung JH, Ko HW.

BMB Rep. 2015 Dec;48(12):647-54. Review.

10.

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R.

PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015.

11.

Truncation of POC1A associated with short stature and extreme insulin resistance.

Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium, Savage DB, O'Rahilly S, Semple RK, Barroso I.

J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090.

12.

Histopathology of the human inner ear in Alström's syndrome.

Nadol JB Jr, Marshall JD, Bronson RT.

Audiol Neurootol. 2015;20(4):267-72. doi: 10.1159/000381935. Epub 2015 Jun 24.

13.

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Lazar CH, Kimchi A, Namburi P, Mutsuddi M, Zelinger L, Beryozkin A, Ben-Simhon S, Obolensky A, Ben-Neriah Z, Argov Z, Pikarsky E, Fellig Y, Marks-Ohana D, Ratnapriya R, Banin E, Sharon D, Swaroop A.

Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.

14.

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.

Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P, Marshall JD, Paisey C, Steeds RP, Edwards NC, Bunce S, Geberhiwot T.

J Clin Endocrinol Metab. 2015 Aug;100(8):E1116-24. doi: 10.1210/jc.2015-1577. Epub 2015 Jun 11.

15.

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. doi: 10.1002/humu.22796. Epub 2015 May 18.

16.

Genetic & epigenetic approach to human obesity.

Rao KR, Lal N, Giridharan NV.

Indian J Med Res. 2014 Nov;140(5):589-603. Review.

17.

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.

Favaretto F, Milan G, Collin GB, Marshall JD, Stasi F, Maffei P, Vettor R, Naggert JK.

PLoS One. 2014 Oct 9;9(10):e109540. doi: 10.1371/journal.pone.0109540. eCollection 2014.

18.

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. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

19.

Rare variants in NR2F2 cause congenital heart defects in humans.

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF; UK10K Consortium, Wilson DI, Mital S, Hurles ME.

Am J Hum Genet. 2014 Apr 3;94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007. Erratum in: Am J Hum Genet. 2016 Mar 3;98(3):592. Low, Jacoba [corrected to Louw, Jacoba]. Am J Hum Genet. 2014 Jul 3;95(1):126.

20.

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 Nov 24;19:2393-406. eCollection 2013.

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