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Items: 1 to 20 of 64

1.

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.

PMID:
27523285
2.

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.

Safieh LA, Al-Otaibi HM, Lewis RA, Kozak I.

Middle East Afr J Ophthalmol. 2016 Jan-Mar;23(1):139-41. doi: 10.4103/0974-9233.171779.

3.

Pituitary morphovolumetric changes in Alström syndrome.

Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R.

J Neuroradiol. 2016 Jun;43(3):195-9. doi: 10.1016/j.neurad.2015.10.005. Epub 2015 Dec 17.

PMID:
26704672
4.

Extensive Admixture and Selective Pressure Across the Sahel Belt.

Triska P, Soares P, Patin E, Fernandes V, Cerny V, Pereira L.

Genome Biol Evol. 2015 Nov 26;7(12):3484-95. doi: 10.1093/gbe/evv236.

5.

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.

6.

Rare coding variants and X-linked loci associated with age at menarche.

Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, Huffman JE, Mihailov E, Porcu E, Robino A, Rose LM, Schick UM, Stolk L, Teumer A, Thompson DJ, Traglia M, Wang CA, Yerges-Armstrong LM, Antoniou AC, Barbieri C, Coviello AD, Cucca F, Demerath EW, Dunning AM, Gandin I, Grove ML, Gudbjartsson DF, Hocking LJ, Hofman A, Huang J, Jackson RD, Karasik D, Kriebel J, Lange EM, Lange LA, Langenberg C, Li X, Luan J, Mägi R, Morrison AC, Padmanabhan S, Pirie A, Polasek O, Porteous D, Reiner AP, Rivadeneira F, Rudan I, Sala CF, Schlessinger D, Scott RA, Stöckl D, Visser JA, Völker U, Vozzi D, Wilson JG, Zygmunt M; EPIC-InterAct Consortium.; Generation Scotland., Boerwinkle E, Buring JE, Crisponi L, Easton DF, Hayward C, Hu FB, Liu S, Metspalu A, Pennell CE, Ridker PM, Strauch K, Streeten EA, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Wellons M, Franceschini N, Chasman DI, Thorsteinsdottir U, Murray A, Stefansson K, Murabito JM, Ong KK, Perry JR.

Nat Commun. 2015 Aug 4;6:7756. doi: 10.1038/ncomms8756. Erratum in: Nat Commun. 2015;6:10257.

7.

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.

8.

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.

9.

Follicular variant of papillary thyroid cancer in Alström syndrome.

Papadakis M, Meyer A, Schuster F, Weyerbrock N, Corinth C, Dotzenrath C.

Fam Cancer. 2015 Dec;14(4):599-602. doi: 10.1007/s10689-015-9816-x.

PMID:
26048691
10.

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. doi: 10.4997/JRCPE.2015.108.

PMID:
25874828
11.

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.

12.

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

Long PA, Evans JM, Olson TM.

Am J Med Genet A. 2015 Apr;167A(4):886-90. doi: 10.1002/ajmg.a.36994. Epub 2015 Feb 23.

13.

Temporal endogenous gene expression profiles in response to lipid-mediated transfection.

Martin TM, Plautz SA, Pannier AK.

J Gene Med. 2015 Jan-Feb;17(1-2):14-32. doi: 10.1002/jgm.2821.

PMID:
25663588
14.

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.

15.

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.

PMID:
25296579
16.

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

Louw JJ, Corveleyn A, Jia Y, Iqbal S, Boshoff D, Gewillig M, Peeters H, Moerman P, Devriendt K.

Eur J Med Genet. 2014 Sep;57(9):532-5. doi: 10.1016/j.ejmg.2014.06.004. Epub 2014 Jun 24.

PMID:
24972238
17.

Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.

Rajasagi M, Shukla SA, Fritsch EF, Keskin DB, DeLuca D, Carmona E, Zhang W, Sougnez C, Cibulskis K, Sidney J, Stevenson K, Ritz J, Neuberg D, Brusic V, Gabriel S, Lander ES, Getz G, Hacohen N, Wu CJ.

Blood. 2014 Jul 17;124(3):453-62. doi: 10.1182/blood-2014-04-567933. Epub 2014 Jun 2.

18.

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.

Bahmad Jr F, Costa CS, Teixeira MS, Barros Filho Jd, Viana LM, Marshall J.

Braz J Otorhinolaryngol. 2014 Apr;80(2):99-104. English, Portuguese.

19.

Syndromic obesity: clinical implications of a correct diagnosis.

Milani D, Cerutti M, Pezzani L, Maffei P, Milan G, Esposito S.

Ital J Pediatr. 2014 Apr 2;40(1):33. doi: 10.1186/1824-7288-40-33.

20.

Basal body proteins regulate Notch signaling through endosomal trafficking.

Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA.

J Cell Sci. 2014 Jun 1;127(Pt 11):2407-19. doi: 10.1242/jcs.130344. Epub 2014 Mar 28.

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