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Results: 1 to 20 of 28

1.

Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.

Wu H, Luo J, Yu H, Rattner A, Mo A, Wang Y, Smallwood PM, Erlanger B, Wheelan SJ, Nathans J.

Neuron. 2014 Jan 8;81(1):103-19. doi: 10.1016/j.neuron.2013.10.051.

PMID:
24411735
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A family with Wagner syndrome with uveitis and a new versican mutation.

Rothschild PR, Brézin AP, Nedelec B, Burin des Roziers C, Ghiotti T, Orhant L, Boimard M, Valleix S.

Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013.

PMID:
24174867
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Multi-functional norrin is a ligand for the LGR4 receptor.

Deng C, Reddy P, Cheng Y, Luo CW, Hsiao CL, Hsueh AJ.

J Cell Sci. 2013 May 1;126(Pt 9):2060-8. doi: 10.1242/jcs.123471. Epub 2013 Feb 26.

PMID:
23444378
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Romaniello R, Arrigoni F, Citterio A, Tonelli A, Sforzini C, Rizzari C, Pessina M, Triulzi F, Bassi MT, Borgatti R.

J Child Neurol. 2013 Dec;28(12):1702-8. doi: 10.1177/0883073812467849. Epub 2012 Dec 5.

PMID:
23220793
[PubMed - indexed for MEDLINE]
5.

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.

McNeill B, Mazerolle C, Bassett EA, Mears AJ, Ringuette R, Lagali P, Picketts DJ, Paes K, Rice D, Wallace VA.

Hum Mol Genet. 2013 Mar 1;22(5):1005-16. doi: 10.1093/hmg/dds505. Epub 2012 Nov 30.

PMID:
23201751
[PubMed - indexed for MEDLINE]
Free Article
6.

Norrie disease: extraocular clinical manifestations in 56 patients.

Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL.

Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11.

PMID:
22786811
[PubMed - indexed for MEDLINE]
7.

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Ghosh M, Sharma S, Shastri S, Arora S, Shukla R, Gupta N, Deka D, Kabra M.

Indian J Pediatr. 2012 Nov;79(11):1529-31. doi: 10.1007/s12098-012-0788-7. Epub 2012 Jun 7.

PMID:
22674248
[PubMed - indexed for MEDLINE]
8.

Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.

Yang H, Li S, Xiao X, Guo X, Zhang Q.

Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.

PMID:
22563645
[PubMed - indexed for MEDLINE]
9.

Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus.

Xu S, Cheng F, Liang J, Wu W, Zhang J.

PLoS Biol. 2012;10(3):e1001286. doi: 10.1371/journal.pbio.1001286. Epub 2012 Mar 20.

PMID:
22448144
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.

Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W.

Hum Mol Genet. 2012 Jun 15;21(12):2619-30. doi: 10.1093/hmg/dds087. Epub 2012 Mar 6.

PMID:
22394677
[PubMed - indexed for MEDLINE]
Free Article
11.

Macular epiretinal membrane peeling treatment outcomes in young children.

Ferrone PJ, Chaudhary KM.

Retina. 2012 Mar;32(3):530-6. doi: 10.1097/IAE.0B013E318233AD26.

PMID:
22374156
[PubMed - indexed for MEDLINE]
12.

Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses.

Jakobiec FA, Zakka FR, D'Amato R, Deangelis MM, Walton DS, Rao RC.

J AAPOS. 2011 Dec;15(6):579-86. doi: 10.1016/j.jaapos.2011.08.009.

PMID:
22153404
[PubMed - indexed for MEDLINE]
13.

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

Chamney S, McLoone E, Willoughby CE.

Eye (Lond). 2011 Dec;25(12):1658. doi: 10.1038/eye.2011.226. Epub 2011 Sep 30. No abstract available.

PMID:
21960066
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Preterm treatment of Norrie disease.

Drenser KA, Walsh MK, Capone A Jr, Trese MT, Luo CK.

Ophthalmology. 2011 Aug;118(8):1694-5; author reply 1695,1695.e1. doi: 10.1016/j.ophtha.2011.03.001. No abstract available.

PMID:
21813101
[PubMed - indexed for MEDLINE]
15.

Norrie disease vs familial exudative vitreoretinopathy.

Walsh MK, Drenser KA, Capone A Jr, Trese MT.

Arch Ophthalmol. 2011 Jun;129(6):819-20. doi: 10.1001/archophthalmol.2011.131. No abstract available.

PMID:
21670366
[PubMed - indexed for MEDLINE]
16.

Molecular and clinical studies of X-linked deafness among Pakistani families.

Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.

J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. Erratum in: J Hum Genet. 2011 Oct;56(10):752. Binder, Munir A [corrected to Bhinder, Munir A].

PMID:
21633365
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, Pan Q, Xia K.

Mol Vis. 2010 Dec 8;16:2653-8.

PMID:
21179243
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.

Hiraoka M, Takahashi H, Orimo H, Hiraoka M, Ogata T, Azuma N.

Mol Vis. 2010 Dec 5;16:2572-7.

PMID:
21151595
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

In utero diagnosis of Norrie disease and early laser preserves visual acuity.

Kiernan DF, Blair MP, Shapiro MJ.

Arch Ophthalmol. 2010 Oct;128(10):1382. doi: 10.1001/archophthalmol.2010.207. No abstract available.

PMID:
20938020
[PubMed - indexed for MEDLINE]
20.

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Staropoli JF, Xin W, Sims KB.

J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.

PMID:
20679667
[PubMed - indexed for MEDLINE]

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