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Items: 1 to 20 of 22

1.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Li N, Wang L, Cui L, Zhang L, Dai S, Li H, Chen X, Zhu L, Hejtmancik JF, Zhao K.

Mol Vis. 2008 Apr 18;14:733-8.

2.

[Molecular genetics advances of congenital idiopathic nystagmus].

Wang XJ, Zhao KX.

Zhonghua Yan Ke Za Zhi. 2011 Nov;47(11):1038-42. Review. Chinese.

PMID:
22336070
3.

Aetiology of infantile nystagmus.

Gottlob I, Proudlock FA.

Curr Opin Neurol. 2014 Feb;27(1):83-91. doi: 10.1097/WCO.0000000000000058. Review.

PMID:
24346039
4.

A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.

Zhang H, Quan C, Sun LD, Lv HL, Gao M, Zhou FS, Xiao FL, Fang QY, Shen YJ, Zhou L, Yang S, Zhang XJ.

Clin Exp Dermatol. 2009 Jan;34(1):74-6. doi: 10.1111/j.1365-2230.2008.02844.x. Epub 2008 Aug 12. Review.

PMID:
18702659
5.

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).

Self J, Lotery A.

Ophthalmic Genet. 2007 Dec;28(4):187-91. Review.

PMID:
18161616
6.

Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China.

Liang YH, Gao M, Sun LD, Liu LJ, Cui Y, Yang S, Fan X, Wang J, Xiao FL, Zhang XJ.

Br J Dermatol. 2005 Dec;153(6):1213-5. Review. No abstract available.

PMID:
16307661
7.

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.

Zhao XY, Yang S, Zhou HL, Zhu YG, Wei L, Du WH, Ren YQ, Liang YH, Hou YX, Chen JJ, Zhang XJ.

Br J Dermatol. 2006 Nov;155(5):1070-3. Review. No abstract available.

PMID:
17034546
8.

[Albinism, frequent etiology of the congenital nystagmus].

Duncombe-Poulet C.

Oftalmologia. 2010;54(3):21-8. Review. French. No abstract available.

PMID:
21137186
9.

Infantile and acquired nystagmus in childhood.

Ehrt O.

Eur J Paediatr Neurol. 2012 Nov;16(6):567-72. doi: 10.1016/j.ejpn.2012.02.010. Epub 2012 Mar 28. Review.

PMID:
22459007
10.

A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.

Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S.

Arch Neurol. 2001 Jun;58(6):1004-7. Review.

PMID:
11405816
11.

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A.

J Am Acad Dermatol. 2007 Sep;57(3):407-12. Epub 2007 Apr 8. Review.

PMID:
17420068
12.

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP, Andria G, Sebastio G.

Hum Mutat. 2008 Jan;29(1):14-21. Review.

PMID:
17764084
13.

Molecular advances in thyroglobulin disorders.

Rivolta CM, Targovnik HM.

Clin Chim Acta. 2006 Dec;374(1-2):8-24. Epub 2006 Jun 7. Review.

PMID:
16870170
14.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
15.

BTKbase: the mutation database for X-linked agammaglobulinemia.

Väliaho J, Smith CI, Vihinen M.

Hum Mutat. 2006 Dec;27(12):1209-17. Review.

PMID:
16969761
16.

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.

Liang Y, Shen D, Cai W.

J Pediatr Surg. 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. Review.

PMID:
18280297
17.

[Genetic aspects of valvulopathies].

Kyndt F, Le Scouarnec S, Jaafar P, Gueffet JP, Legendre A, Trochu JN, Jousseaume V, Chaventré A, Schott JJ, Le Marec H, Probst V.

Arch Mal Coeur Vaiss. 2007 Dec;100(12):1013-20. Review. French.

PMID:
18223515
18.

The molecular genetics of congenital idiopathic nystagmus.

Self J, Lotery A.

Semin Ophthalmol. 2006 Apr-Jun;21(2):87-90. Review.

PMID:
16702075
20.

Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.

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

Clin Exp Dermatol. 2016 Oct;41(7):757-60. doi: 10.1111/ced.12889. Review.

PMID:
27663151

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