PubMed

Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex.

Bridge H, Cowey A, Ragge N, Watkins K.

Brain. 2009 Nov 5. [Epub ahead of print]PMID: 19892766 [PubMed - as supplied by publisher]Related articles

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK.

Hum Mutat. 2009 Oct;30(10):1378-86.PMID: 19708017 [PubMed - in process]Related articles

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.

Hum Genet. 2009 Aug 14. [Epub ahead of print]PMID: 19685247 [PubMed - as supplied by publisher]Related articles

MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.

Wyatt AW, Ragge N.

Mol Vis. 2009 Jul 28;15:1445-8.PMID: 19641633 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.

Kaur K, Ragge NK, Ragoussis J.

Mol Vis. 2009 Jul 13;15:1366-73.PMID: 19626132 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.

Hum Mutat. 2008 Nov;29(11):E278-83.PMID: 18781617 [PubMed - indexed for MEDLINE]Related articles

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7.PMID: 18553518 [PubMed - indexed for MEDLINE]Related articles

Neurofibromatosis type 2 in twins.

Abbott J, Sivaraj RR, Ng A, Cole TR, MacPherson LK, Ragge NK.

J Pediatr Ophthalmol Strabismus. 2008 May-Jun;45(3):190-1. No abstract available. PMID: 18524203 [PubMed - indexed for MEDLINE]Related articles

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.

Am J Hum Genet. 2008 Feb;82(2):304-19. Epub 2008 Jan 31.PMID: 18252212 [PubMed - indexed for MEDLINE]Related articlesFree article

A practical guide to the management of anophthalmia and microphthalmia.

Ragge NK, Subak-Sharpe ID, Collin JR.

Eye (Lond). 2007 Oct;21(10):1290-300. Review.PMID: 17914432 [PubMed - indexed for MEDLINE]Related articles

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.

Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23.PMID: 17522144 [PubMed - indexed for MEDLINE]Related articles

Early midline interactions are important in mouse optic chiasm formation but are not critical in man: a significant distinction between man and mouse.

Neveu MM, Holder GE, Ragge NK, Sloper JJ, Collin JR, Jeffery G.

Eur J Neurosci. 2006 Jun;23(11):3034-42.PMID: 16819992 [PubMed - indexed for MEDLINE]Related articles

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR.

Epilepsia. 2006 Mar;47(3):534-42.PMID: 16529618 [PubMed - indexed for MEDLINE]Related articles

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.

Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA.

Br J Ophthalmol. 2005 Aug;89(8):988-91.PMID: 16024850 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. PMID: 15846561 [PubMed - indexed for MEDLINE]Related articlesFree article

SOX2 anophthalmia syndrome.

Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR.

Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8.PMID: 15812812 [PubMed - indexed for MEDLINE]Related articles

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Aijaz S, Clark BJ, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, Collin R, Ragge N, Christoforou A, Brown A, Hanson I.

Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3871-6.PMID: 15505031 [PubMed - indexed for MEDLINE]Related articlesFree article

Orbitotemporal neurofibromatosis. Clinical features and surgical management.

Lee V, Ragge NK, Collin JR.

Ophthalmology. 2004 Feb;111(2):382-8.PMID: 15019395 [PubMed - indexed for MEDLINE]Related articles

The surgical management of childhood orbito-temporal neurofibromatosis.

Lee V, Ragge NK, Collin JR.

Br J Plast Surg. 2003 Jun;56(4):380-7.PMID: 12873467 [PubMed - indexed for MEDLINE]Related articles

The management of orbital cysts associated with congenital microphthalmos and anophthalmos.

McLean CJ, Ragge NK, Jones RB, Collin JR.

Br J Ophthalmol. 2003 Jul;87(7):860-3.PMID: 12812886 [PubMed - indexed for MEDLINE]Related articlesFree article

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C.

Am J Med Genet A. 2003 May 15;119A(1):1-8.PMID: 12707950 [PubMed - indexed for MEDLINE]Related articles

Mutations in SOX2 cause anophthalmia.

Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.

Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.PMID: 12612584 [PubMed - indexed for MEDLINE]Related articles

Ocular tilt reaction due to a mesencephalic lesion in juvenile polyarteritis nodosa.

Ragge NK, Harris CM, Dillon MJ, Chong WK, Elston J, Taylor DS.

Am J Ophthalmol. 2003 Feb;135(2):249-51.PMID: 12566042 [PubMed - indexed for MEDLINE]Related articles

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus.

Ragge NK, Hartley C, Dearlove AM, Walker J, Russell-Eggitt I, Harris CM.

J Med Genet. 2003 Jan;40(1):37-41.PMID: 12525540 [PubMed - indexed for MEDLINE]Related articlesFree article

Statins, fibrates, and ocular myasthenia.

Parmar B, Francis PJ, Ragge NK.

Lancet. 2002 Aug 31;360(9334):717. No abstract available. PMID: 12241896 [PubMed - indexed for MEDLINE]Related articles

Dominant inheritance of optic pits.

Ragge NK, Ravine D, Wilkie AO.

Am J Ophthalmol. 1998 Jan;125(1):124-5. No abstract available. PMID: 9437334 [PubMed - indexed for MEDLINE]Related articles

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO.

Am J Med Genet. 1997 Oct 17;72(2):227-36.PMID: 9382148 [PubMed - indexed for MEDLINE]Related articles

The ocular presentation of neurofibromatosis 2.

Ragge NK, Baser ME, Riccardi VM, Falk RE.

Eye (Lond). 1997;11 ( Pt 1):12-8.PMID: 9246269 [PubMed - indexed for MEDLINE]Related articles

Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations.

Baser ME, Mautner VF, Ragge NK, Nechiporuk A, Riccardi VM, Klein J, Sainz J, Pulst SM.

Neurology. 1996 Nov;47(5):1269-77.PMID: 8909442 [PubMed - indexed for MEDLINE]Related articles

Phenotypic variability in monozygotic twins with neurofibromatosis 2.

Baser ME, Ragge NK, Riccardi VM, Janus T, Gantz B, Pulst SM.

Am J Med Genet. 1996 Sep 6;64(4):563-7.PMID: 8870923 [PubMed - indexed for MEDLINE]Related articles

Iris mammillations: significance and associations.

Ragge NK, Acheson J, Murphree AL.

Eye (Lond). 1996;10 ( Pt 1):86-91.PMID: 8763309 [PubMed - indexed for MEDLINE]Related articles

Ocular abnormalities in neurofibromatosis 2.

Ragge NK, Baser ME, Klein J, Nechiporuk A, Sainz J, Pulst SM, Riccardi VM.

Am J Ophthalmol. 1995 Nov;120(5):634-41.PMID: 7485365 [PubMed - indexed for MEDLINE]Related articles

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM.

Hum Mol Genet. 1994 Jun;3(6):885-91.PMID: 7951231 [PubMed - indexed for MEDLINE]Related articles

Ancient neurofibromatosis.

Ragge NK, Munier FL.

Nature. 1994 Apr 28;368(6474):815. No abstract available. PMID: 8159238 [PubMed - indexed for MEDLINE]Related articles

Loss of alleles in vestibular schwannomas: use of microsatellite markers on chromosome 22.

Sainz J, Baser ME, Ragge NK, Nelson RA, Pulst SM.

Arch Otolaryngol Head Neck Surg. 1993 Dec;119(12):1285-8.PMID: 17431981 [PubMed - indexed for MEDLINE]Related articles

Clinical and genetic patterns of neurofibromatosis 1 and 2.

Ragge NK.

Br J Ophthalmol. 1993 Oct;77(10):662-72. Review. No abstract available. PMID: 8218038 [PubMed - indexed for MEDLINE]Related articlesFree article

Localised Wegener's granulomatosis presenting as an orbital pseudotumour with extension into the posterior cranial fossa.

Diamond JP, Bloom PA, Ragge N, Easty DL, Laszlo G.

Eur J Ophthalmol. 1993 Jul-Sep;3(3):143-6.PMID: 8219737 [PubMed - indexed for MEDLINE]Related articles

Phakomatosis pigmentovascularis type IIb with iris mammillations.

Gilliam AC, Ragge NK, Perez MI, Bolognia JL.

Arch Dermatol. 1993 Mar;129(3):340-2.PMID: 8447671 [PubMed - indexed for MEDLINE]Related articles

Infrequent mutation of the p53 gene in fibrous tumors of infancy and childhood.

Boman F, Peters J, Ragge N, Triche T.

Diagn Mol Pathol. 1993 Mar;2(1):14-22.PMID: 8287221 [PubMed - indexed for MEDLINE]Related articles

Images of Lisch nodules across the spectrum.

Ragge NK, Falk RE, Cohen WE, Murphree AL.

Eye (Lond). 1993;7 ( Pt 1):95-101.PMID: 8325432 [PubMed - indexed for MEDLINE]Related articles

Midbrain myasthenia: fatigable ptosis, 'lid twitch' sign, and ophthalmoparesis from a dorsal midbrain glioma.

Ragge NK, Hoyt WF.

Neurology. 1992 Apr;42(4):917-9.PMID: 1565251 [PubMed - indexed for MEDLINE]Related articles

Nettleship collaterals: circumpapillary cilioretinal anastomoses after occlusion of the central retinal artery.

Ragge NK, Hoyt WF.

Br J Ophthalmol. 1992 Mar;76(3):186-8.PMID: 1540571 [PubMed - indexed for MEDLINE]Related articlesFree article

Multiple cilioretinal arteries and dysplasia of the optic disc.

Barroso LH, Ragge NK, Hoyt WF.

J Clin Neuroophthalmol. 1991 Dec;11(4):278-9. No abstract available. PMID: 1838549 [PubMed - indexed for MEDLINE]Related articles

Isolated congenital hemianopia caused by prenatal injury to the optic radiation.

Ragge NK, Barkovich AJ, Hoyt WF, Lambert SR.

Arch Neurol. 1991 Oct;48(10):1088-91.PMID: 1929905 [PubMed - indexed for MEDLINE]Related articles

Big discs with optic nerve hypoplasia.

Ragge NK, Hoyt WF, Lambert SR.

J Clin Neuroophthalmol. 1991 Jun;11(2):137. No abstract available. PMID: 1832688 [PubMed - indexed for MEDLINE]Related articles

A case of fungal keratitis caused by Scopulariopsis brevicaulis: treatment with antifungal agents and penetrating keratoplasty.

Ragge NK, Hart JC, Easty DL, Tyers AG.

Br J Ophthalmol. 1990 Sep;74(9):561-2.PMID: 2168203 [PubMed - indexed for MEDLINE]Related articlesFree article

Septicaemia due to Neisseria lactamica--initial confusion with Neisseria meningitidis.

Brown NM, Ragge NK, Speller DC.

J Infect. 1987 Nov;15(3):243-5.PMID: 3121756 [PubMed - indexed for MEDLINE]Related articles

Chronic dermal sinuses as a manifestation of histiocytosis X.

Sacks SH, Hall I, Ragge N, Pritchard J.

Br Med J (Clin Res Ed). 1986 Apr 26;292(6528):1097-8.PMID: 3084014 [PubMed - indexed for MEDLINE]Related articlesFree article

Human syncytiotrophoblast membrane proteins defined using a heterologous antiserum.

Whyte A, Ragge N, Loke YW, Thiry L.

Clin Exp Immunol. 1985 Jan;59(1):227-34.PMID: 3971597 [PubMed - indexed for MEDLINE]Related articlesFree article