Works matching DE "NORRIE'S disease"
Results: 30
Refractory epilepsy in Norrie disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader–Willi syndrome and Moebius syndrome.
- Published in:
- Journal of Sleep Research, 1999, v. 8, p. 14, doi. 10.1046/j.1365-2869.1999.00004.x
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- Publication type:
- Article
A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease.
- Published in:
- Audiology & Neurotology, 2014, v. 19, n. 3, p. 203, doi. 10.1159/000358866
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- Publication type:
- Article
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.503
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- Publication type:
- Article
Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204
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- Publication type:
- Article
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 4, p. 367, doi. 10.1111/j.1442-9071.2010.02245.x
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- Publication type:
- Article
Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 4, p. 178, doi. 10.1007/s100380170085
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- Publication type:
- Article
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 2, p. 53, doi. 10.1007/s100380170108
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- Publication type:
- Article
Heredo-Retinopathia Congenitalis (Monohybrida Recessiva Autosomalis) (Book).
- Published in:
- 1958
- By:
- Publication type:
- Book Review
Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages.
- Published in:
- Pediatrics International, 2001, v. 43, n. 2, p. 120, doi. 10.1046/j.1442-200x.2001.01361.x
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- Publication type:
- Article
Genetic Evaluation to Establish the Diagnosis of X-Linked Familial Exudative Vitreoretinopathy
- Published in:
- Ophthalmic Genetics, 2006, v. 27, n. 3, p. 75, doi. 10.1080/13816810600862402
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- Publication type:
- Article
Isolated Norrie disease in a female caused by a balanced translocationt(X,6).
- Published in:
- Ophthalmic Genetics, 1998, v. 19, n. 4, p. 203, doi. 10.1076/opge.19.4.203.2306
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- Publication type:
- Article
Intrafamilial variability of the ocular phenotype in a Polish familywith a missense mutation (A63D) in the Norrie disease gene.
- Published in:
- Ophthalmic Genetics, 1998, v. 19, n. 3, p. 157, doi. 10.1076/opge.19.3.157.2184
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- Publication type:
- Article
Report on Norrie's cytology.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 1, p. e81, doi. 10.1111/j.1755-3768.2010.02056.x
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- Publication type:
- Article
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
- Published in:
- Journal of Genetics, 2017, v. 96, n. 6, p. 1015, doi. 10.1007/s12041-017-0869-5
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- Publication type:
- Article
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
- Published in:
- Clinical & Experimental Ophthalmology, 2006, v. 34, n. 7, p. 682, doi. 10.1111/j.1442-9071.2006.01314.x
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- Publication type:
- Article
A C597→A Polymorphism in the Norrie Disease Gene Is Associated with Advanced Retinopathy of Prematurity in Premature Kuwaiti Infants.
- Published in:
- Journal of Biomedical Science, 2002, v. 9, n. 4, p. 365, doi. 10.1159/000065008
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- Publication type:
- Article
Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178753
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- Publication type:
- Article
Relationship between Retinopathy and Cognitive Impairment among Hypertensive Subjects.
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- European Neurology, 2004, v. 52, n. 3, p. 156, doi. 10.1159/000081855
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- Publication type:
- Article
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 6, p. 361, doi. 10.3928/01913913-20041101-10
- By:
- Publication type:
- Article
Audiologic Features of Norrie Disease.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2005, v. 114, n. 7, p. 533, doi. 10.1177/000348940511400707
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- Publication type:
- Article
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Familial cases of Norrie disease detected by copy number analysis.
- Published in:
- Japanese Journal of Ophthalmology, 2014, v. 58, n. 5, p. 448, doi. 10.1007/s10384-014-0334-4
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- Publication type:
- Article
Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease.
- Published in:
- Current Eye Research, 2012, v. 37, n. 8, p. 726, doi. 10.3109/02713683.2012.675615
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- Publication type:
- Article
A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 6, p. e516, doi. 10.1111/aos.12904
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- Publication type:
- Article
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 2, p. 229, doi. 10.1515/cclm-2017-0226
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- Publication type:
- Article
Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With CTC1 and NDP Mutations.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1702, doi. 10.1177/0883073812467849
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- Publication type:
- Article
Ectopic Norrin Induces Growth of Ocular Capillaries and Restores Normal Retinal Angiogenesis in Norrie Disease Mutant Mice.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 7, p. 1701, doi. 10.1523/JNEUROSCI.4756-04.2005
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- Publication type:
- Article