Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 83

1.

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E.

Am J Hum Genet. 2011 Aug 12;89(2):302-7. doi: 10.1016/j.ajhg.2011.07.004. Epub 2011 Aug 4.

2.

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.

Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E.

Br J Dermatol. 2014 Dec;171(6):1521-4. doi: 10.1111/bjd.13176. Epub 2014 Oct 26.

PMID:
24909267
3.

Analysis of two candidate genes for Basan syndrome.

Marks KC, Banks WR 3rd, Cunningham D, Witman PM, Herman GE.

Am J Med Genet A. 2014 May;164A(5):1188-91. doi: 10.1002/ajmg.a.36438. Epub 2014 Mar 24.

PMID:
24664640
4.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X.

Mol Vis. 2008 Mar 4;14:378-86.

5.

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L.

Mol Vis. 2010 Feb 5;16:154-60.

6.

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

Am J Med Genet A. 2006 Mar 15;140(6):558-66.

PMID:
16470690
7.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.

Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.

8.

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Wang K, Wang B, Wang J, Zhou S, Yun B, Suo P, Cheng J, Ma X, Zhu S.

Mol Vis. 2009 Dec 16;15:2813-20.

9.

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS.

Hum Mol Genet. 1999 Jun;8(6):971-6.

PMID:
10332028
10.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.

Mol Vis. 2008 Apr 18;14:727-31.

11.

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D.

Am J Hum Genet. 2002 Apr;70(4):943-54. Epub 2002 Feb 26.

12.

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.

Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K.

Am J Med Genet A. 2005 Feb 15;133A(1):13-7.

PMID:
15637712
14.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21.

PMID:
15277496
15.

SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases.

Adra CN, Donato JL, Badovinac R, Syed F, Kheraj R, Cai H, Moran C, Kolker MT, Turner H, Weremowicz S, Shirakawa T, Morton CC, Schnipper LE, Drews R.

Genomics. 2000 Oct 15;69(2):162-73.

PMID:
11031099
16.

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY.

Mol Cell Endocrinol. 2009 Dec 10;313(1-2):50-6. doi: 10.1016/j.mce.2009.08.021. Epub 2009 Sep 4. Erratum in: Mol Cell Endocrinol. 2010 Apr 12;317(1-2):168-9.

PMID:
19733620
17.

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.

Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J, Walter N, Moreira AT, Clancy K, Spence MA.

Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3278-85.

PMID:
11006214
18.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF.

Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12.

19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
20.

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z.

Eur J Hum Genet. 2016 Aug;24(9):1367-70. doi: 10.1038/ejhg.2016.15. Epub 2016 Mar 2.

Supplemental Content

Support Center