|1.||Berger, Wolfgang: 6 articles (05/2008 - 06/2002)|
|2.||Shastry, B S: 4 articles (01/2001 - 07/2000)|
|3.||Trese, M T: 4 articles (01/2001 - 07/2000)|
|4.||Rehm, Heidi L: 3 articles (08/2012 - 06/2002)|
|5.||Barros, Elizabete Ribeiro: 3 articles (12/2011 - 08/2008)|
|6.||Lazaretti-Castro, Marise: 3 articles (12/2011 - 08/2008)|
|7.||Trese, Michael T: 3 articles (04/2010 - 02/2003)|
|8.||Halpin, Chris: 3 articles (11/2008 - 06/2002)|
|9.||Luhmann, Ulrich F O: 3 articles (05/2008 - 08/2005)|
|10.||Feil, Silke: 3 articles (05/2008 - 09/2002)|
08/18/2006 - "Our data suggest an important component of the skeletal fragility phenotype in individuals affected with osteoporosis-pseudoglioma is inadequate processing of signals derived from mechanical stimulation and that PTH might be an effective treatment for improving bone mass in these patients."
01/01/2015 - "[889dupA]; [2827 + 1G > A]) confirming a diagnosis of osteoporosis-pseudoglioma (OPPG) syndrome. "
01/01/2014 - "Lrp5/LRP5 deficiency results in osteoporosis-pseudoglioma (OPPG), whereas Sost/SOST deficiency induces lifelong bone gain in mice and humans. "
12/01/2011 - "Osteoporosis Pseudoglioma (OPPG) is characterized by severe juvenile-onset osteoporosis and ocular abnormalities. "
08/01/2008 - "Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. "
|2.||Retinal Detachment (Retinal Detachments)
09/01/2006 - "In full-term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long-term outcome."
07/01/2000 - "The ocular changes of IP can have a very similar appearance to the retinal detachment of X-linked familial exudative vitreoretinopathy, which has been shown to be caused by the mutations in the Norrie disease gene. "
04/01/1997 - "A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed. "
03/01/1993 - "Obstetric ultrasonography of an obligate Norrie disease carrier revealed bilateral retinal detachments in a third trimester male fetus. "
04/01/2009 - "Lens-sparing vitrectomy effective for reattachment of newly developed falciform retinal detachment in a patient with Norrie disease."
|3.||Retinoblastoma (Glioblastoma, Retinal)
01/01/1985 - "This study helps to demonstrate the importance of echography in the diagnosis of retinoblastoma and in the differential diagnosis between retinoblastoma and pseudoglioma."
01/01/1984 - "This study helps to demonstrate the importance of echography in the diagnosis of retinoblastoma and in the differentiation between retinoblastoma and pseudoglioma ."
01/01/1953 - "[Retinal glioma (retinoblastoma) and pseudoglioma; clinical; genetic and therapeutic study; discussion]."
12/01/1999 - "The purpose of this work is to lay out three observations where the LDH dosage enabled to keep the retinoblastoma diagnosis in one 8-year old child and eliminate it in two children having pseudoglioma with spontaneous evolution allowing to confirm the non-tumoral nature of the affection. "
01/01/1995 - "The term "pseudoglioma" designates a heterogeneous group of diseases that may be confused clinically with retinoblastoma. "
|4.||Retinopathy of Prematurity (Retrolental Fibroplasia)
01/01/2009 - "To illustrate the effect of SNPs on gene function and phenotype, this minireview focuses on evidences revealing the impact of SNPs on the development and progression of three human eye disorders (Norrie disease, familial exudative vitreoretinopathy, and retinopathy of prematurity) that have overlapping clinical manifestations."
09/01/2006 - "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity."
07/14/2005 - "Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity."
07/01/2002 - "A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants."
12/01/2001 - "De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity."
|5.||Persistent Hyperplastic Primary Vitreous
03/01/1998 - "Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous."
09/01/1983 - "The three most common causes of pseudoglioma are persistent hyperplastic primary vitreous, Coats's disease and sclerosing endophthalmitis. "
01/01/1992 - "We believe that the retinal and other manifestations of Norrie disease are the result of a primary abnormality of vascular proliferation, probably in relation to persistent hyperplastic primary vitreous after approximately 14 weeks' gestation. "
|4.||Monoamine Oxidase (MAO)
|5.||LDL-Receptor Related Protein 1 (LDL-Receptor Related Protein)