Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 602

1.

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

2.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Campeau PM, Hennekam RC; DOORS syndrome collaborative group.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28.

PMID:
25169651
3.

Phenotype-genotype complexities: opening DOORS.

Berkovic SF, Gecz J.

Lancet Neurol. 2014 Jan;13(1):24-5. doi: 10.1016/S1474-4422(13)70237-0. Epub 2013 Nov 29. No abstract available.

4.

Applications of next-generation whole exome sequencing.

Harding KE, Robertson NP.

J Neurol. 2014 Jun;261(6):1244-6. doi: 10.1007/s00415-014-7372-1. No abstract available.

PMID:
24838538
5.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB.

Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.

6.

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.

Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.

7.

TBC1D24-Related Disorders.

Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Feb 26.

8.

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.

Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.

Clin Dysmorphol. 2012 Jul;21(3):152-4. doi: 10.1097/MCD.0b013e3283518f1e. No abstract available.

PMID:
22473152
9.

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH.

Childs Nerv Syst. 2013 Apr;29(4):525-9. doi: 10.1007/s00381-013-2047-2. Epub 2013 Feb 12.

PMID:
23400866
10.

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.

Zhang L, Hu L, Chai Y, Pang X, Yang T, Wu H.

Hum Mutat. 2014 Jul;35(7):814-8. doi: 10.1002/humu.22558. Epub 2014 May 6.

PMID:
24729547
11.

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G.

Epilepsy Res. 2015 Mar;111:72-7. doi: 10.1016/j.eplepsyres.2015.01.008. Epub 2015 Jan 25.

PMID:
25769375
12.

TBC1D24 truncating mutation resulting in severe neurodegeneration.

Guven A, Tolun A.

J Med Genet. 2013 Mar;50(3):199-202. doi: 10.1136/jmedgenet-2012-101313. Epub 2013 Jan 23.

PMID:
23343562
13.

Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.

Fernandes AC, Uytterhoeven V, Kuenen S, Wang YC, Slabbaert JR, Swerts J, Kasprowicz J, Aerts S, Verstreken P.

J Cell Biol. 2014 Nov 24;207(4):453-62. doi: 10.1083/jcb.201406026.

14.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.

Am J Med Genet A. 2014 Mar;164A(3):648-54. doi: 10.1002/ajmg.a.36323. Epub 2013 Dec 19.

PMID:
24357154
15.

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I.

Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49.

16.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

PMID:
24916641
17.

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A.

Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12.

PMID:
23526554
18.

Mutations in EZH2 cause Weaver syndrome.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ.

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q.

Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7. doi: 10.1167/iovs.13-11606.

PMID:
23661368
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk