"Isolation of a candidate gene for Norrie disease by positional cloning."
Berger W. , Meindl A. , van de Pol T.J.R. , Cremers F.P.M. , Ropers H.-H. , Doerner C. , Monaco A. , Bergen A.A.B. , Lebo R. , Warburg M. , Zergollern L. , Lorenz B. , Gal A. , Bleeker-Wagemakers E.M. , Meitinger T.
Nat. Genet.1:199-203(1992) [PubMed] [Europe PMC] [Abstract]

Berger W. , Meindl A. , van de Pol T.J.R. , Cremers F.P.M. , Ropers H.-H. , Doerner C. , Monaco A. , Bergen A.A.B. , Lebo R. , Warburg M. , Zergollern L. , Lorenz B. , Gal A. , Bleeker-Wagemakers E.M. , Meitinger T.
Nat. Genet.2:84-84(1992) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of a candidate gene for Norrie disease."
Chen Z.-Y. , Hendriks R.W. , Jobling M.A. , Powell J.F. , Breakfield X.O. , Sims K.B. , Craig I.W.
Nat. Genet.1:204-208(1992) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix."
Perez-Vilar J. , Hill R.L.
J. Biol. Chem.272:33410-33415(1997) [PubMed] [Europe PMC] [Abstract]

"Localization of the Norrie disease gene mRNA by in situ hybridization."
Hartzer M.K. , Cheng M. , Liu X. , Shastry B.S.
Brain Res. Bull.49:355-358(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure."
Meitinger T. , Meindl A. , Bork P. , Rost B. , Sander C. , Haasemann M. , Murken J.
Nat. Genet.5:376-380(1993) [PubMed] [Europe PMC] [Abstract]

"Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex."
Ke J. , Harikumar K.G. , Erice C. , Chen C. , Gu X. , Wang L. , Parker N. , Cheng Z. , Xu W. , Williams B.O. , Melcher K. , Miller L.J. , Xu H.E.
Genes Dev.27:2305-2319(2013) [PubMed] [Europe PMC] [Abstract]

"Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families."
Fuentes J.J. , Volpini V. , Fernandez-Toral F. , Coto E. , Estivill X.
Hum. Mol. Genet.2:1953-1955(1993) [PubMed] [Europe PMC] [Abstract]

"A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease."
Fuchs S. , Xu S.Y. , Caballero M. , Salcedo M. , Lo A.L. , Wedemann H. , Gal A.
Hum. Mol. Genet.3:655-656(1994) [PubMed] [Europe PMC] [Abstract]

"Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene."
Joos K.M. , Kimura A.E. , Vandenburgh K. , Bartley J.A. , Stone E.M.
Arch. Ophthalmol.112:1574-1579(1994) [PubMed] [Europe PMC] [Abstract]

"Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins."
Meindl A. , Berger W. , Meitinger T. , van de Pol D. , Achatz H. , Dorner C. , Haasemann M. , Hellebrand H. , Gal A. , Cremers F.P.M. , Ropers H.-H.
Nat. Genet.2:139-143(1992) [PubMed] [Europe PMC] [Abstract]

"Mutations in the candidate gene for Norrie disease."
Berger W. , van de Pol D. , Warburg M. , Gal A. , Bleeker-Wagemakers L. , de Silva H. , Meindl A. , Meitinger T. , Cremers F.P.M. , Ropers H.-H.
Hum. Mol. Genet.1:461-465(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of a mutation within the NDP gene in a family with a manifesting female carrier."
Chen Z.-Y. , Battinelli E.M. , Woodruff G. , Young I. , Breakefield X.O. , Craig I.W.
Hum. Mol. Genet.2:1727-1729(1993) [PubMed] [Europe PMC] [Abstract]

"A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy."
Chen Z.-Y. , Battinelli E.M. , Fielder A. , Bundey S. , Sims K. , Breakefield X.O. , Craig I.W.
Nat. Genet.5:180-183(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in the Norrie disease gene: a new mutation in a Japanese family."
Isashiki Y. , Ohba N. , Yanagita T. , Hokita N. , Hotta Y. , Hayakawa M. , Fujiki K. , Tanabe U.
Br. J. Ophthalmol.79:703-704(1995) [PubMed] [Europe PMC] [Abstract]

"Mutations in the Norrie disease gene."
Schuback D.E. , Chen Z.Y. , Craig I.W. , Breakefield X.O. , Sims K.B.
Hum. Mutat.5:285-292(1995) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the NDP gene in patients with a less severe course of Norrie disease."
Meindl A. , Lorenz B. , Achatz H. , Hellebrand H. , Schmitz-Valckenberg P. , Meitinger T.
Hum. Mol. Genet.4:489-490(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif."
Strasberg P. , Liede H.A. , Stein T. , Warren I. , Sutherland J. , Ray P.N.
Hum. Mol. Genet.4:2179-2180(1995) [PubMed] [Europe PMC] [Abstract]

"Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype."
Gal A. , Veske A. , Jojart G. , Grammatico B. , Huber B. , Gu S. , del Porto G. , Senyi K.
Acta Ophthalmol. Scand. Suppl.219:13-16(1996) [PubMed] [Europe PMC] [Abstract]

"X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein."
Johnson K. , Mintz-Hittner H.A. , Conley Y.P. , Ferrell R.E.
Clin. Genet.50:113-115(1996) [PubMed] [Europe PMC] [Abstract]

"Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome."
Fuchs S. , van de Pol D. , Beudt U. , Kellner U. , Meire F. , Berger W. , Gal A.
Hum. Mutat.8:85-88(1996) [PubMed] [Europe PMC] [Abstract]

"Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy."
Torrente I. , Mangino M. , Gennarelli M. , Novelli G. , Giannotti A. , Vadala P. , Dallapiccola B.
Am. J. Med. Genet.72:242-244(1997) [PubMed] [Europe PMC] [Abstract]

"Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively."
Walker J.L. , Dixon J. , Fenton C.R. , Hungerford J. , Lynch S.A. , Stenhouses S.A.R. , Christian A. , Craig I.W.
Hum. Mutat.9:53-56(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy."
Shastry B.S. , Hejtmancik J.F. , Trese M.T.
Hum. Mutat.9:396-401(1997) [PubMed] [Europe PMC] [Abstract]

"Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency."
Rehm H.L. , Gutierrez-Espeleta G.A. , Garcia R. , Jimenez G. , Khetarpal U. , Priest J.M. , Sims K.B. , Keats B.J.B. , Morton C.C.
Hum. Mutat.9:402-408(1997) [PubMed] [Europe PMC] [Abstract]

"Norrie disease and exudative vitreoretinopathy in families with affected female carriers."
Shastry B.S. , Hiraoka M. , Trese D.C. , Trese M.T.
Eur. J. Ophthalmol.9:238-242(1999) [PubMed] [Europe PMC] [Abstract]

"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis."
Black G.C.M. , Perveen R. , Bonshek R. , Cahill M. , Clayton-Smith J. , Lloyd I.C. , McLeod D.
Hum. Mol. Genet.8:2031-2035(1999) [PubMed] [Europe PMC] [Abstract]

"Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier."
Yamada K. , Limprasert P. , Ratanasukon M. , Tengtrisorn S. , Yingchareonpukdee J. , Vasiknanonte P. , Kitaoka T. , Ghadami M. , Niikawa N. , Kishino T.
Am. J. Med. Genet.100:52-55(2001) [PubMed] [Europe PMC] [Abstract]

"NDP gene mutations in 14 French families with Norrie disease."
Royer G. , Hanein S. , Raclin V. , Gigarel N. , Rozet J.-M. , Munnich A. , Steffann J. , Dufier J.-L. , Kaplan J. , Bonnefont J.-P.
Hum. Mutat.22:499-499(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense Norrie disease mutation associated with a severe ocular phenotype."
Khan A.O. , Shamsi F.A. , Al-Saif A. , Kambouris M.
J. Pediatr. Ophthalmol. Strabismus41:361-363(2004) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR."
Riveiro-Alvarez R. , Trujillo-Tiebas M.J. , Gimenez-Pardo A. , Garcia-Hoyos M. , Cantalapiedra D. , Lorda-Sanchez I. , Rodriguez de Alba M. , Ramos C. , Ayuso C.
Mol. Vis.11:705-712(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity."
Dickinson J.L. , Sale M.M. , Passmore A. , FitzGerald L.M. , Wheatley C.M. , Burdon K.P. , Craig J.E. , Tengtrisorn S. , Carden S.M. , Maclean H. , Mackey D.A.
Clin. Exp. Ophthalmol.34:682-688(2006) [PubMed] [Europe PMC] [Abstract]

"Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein."
Allen R.C. , Russell S.R. , Streb L.M. , Alsheikheh A. , Stone E.M.
Eye20:234-241(2006) [PubMed] [Europe PMC] [Abstract]

"Gene symbol: NDP. Disease: Norrie disease."
Riveiro-Alvarez R. , Trujillo M.J. , Gimenez A. , Cantalapiedra D. , Vallespin E. , Villaverde C. , Ayuso C.
Hum. Genet.119:675-675(2006) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms."
Lev D. , Weigl Y. , Hasan M. , Gak E. , Davidovich M. , Vinkler C. , Leshinsky-Silver E. , Lerman-Sagie T. , Watemberg N.
Am. J. Med. Genet. A143:921-924(2007) [PubMed] [Europe PMC] [Abstract]

"Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene."
Wu W.-C. , Drenser K. , Trese M. , Capone A. Jr. , Dailey W.
Arch. Ophthalmol.125:225-230(2007) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy."
Kondo H. , Qin M. , Kusaka S. , Tahira T. , Hasebe H. , Hayashi H. , Uchio E. , Hayashi K.
Invest. Ophthalmol. Vis. Sci.48:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]

"Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
Nikopoulos K. , Venselaar H. , Collin R.W.J. , Riveiro-Alvarez R. , Boonstra F.N. , Hooymans J.M. , Mukhopadhyay A. , Shears D. , van Bers M. , de Wijs I.J. , van Essen A.J. , Sijmons R.H. , Tilanus M.A.D. , van Nouhuys C.E. , Ayuso C. , Hoefsloot L.H. , Cremers F.P.M.
Hum. Mutat.31:656-666(2010) [PubMed] [Europe PMC] [Abstract]