Detalhe da pesquisa
1.
Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases.
Clin Immunol
; 155(2): 209-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25264263
2.
Isolation and characterization of a candidate gene for Norrie disease.
Nat Genet
; 1(3): 204-8, 1992 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-1303236
3.
Monoamine oxidase deficiency in males with an X chromosome deletion.
Neuron
; 2(1): 1069-76, 1989 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-2483108
4.
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
Clin Genet
; 73(5): 430-40, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18312448
5.
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
Am J Med Genet
; 42(1): 127-34, 1992 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1308352
6.
Screen for MAOA mutations in target human groups.
Am J Med Genet
; 88(1): 25-8, 1999 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-10050962
7.
Norrie disease in a family with a manifesting female carrier.
Arch Ophthalmol
; 115(4): 517-9, 1997 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-9109762
8.
Vasoactive intestinal polypeptide (VIP) in mouse and rat brain: an immunocytochemical study.
Brain Res
; 186(1): 165-83, 1980 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-6986955
9.
Microtubule-associated protein 2 (MAP 2) immunoreactivity in human fetal neocortex.
Brain Res
; 449(1-2): 192-200, 1988 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-3293702
10.
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Genet Test
; 3(4): 323-8, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10627938
11.
Von Hippel-Lindau disease: gene to bedside.
Curr Opin Neurol
; 14(6): 695-703, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11723376
12.
Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy.
Ann Neurol
; 25(4): 413-5, 1989 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-2540694
13.
Mutations in the Norrie disease gene.
Hum Mutat
; 5(4): 285-92, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-7627181
14.
Quality of life assessment in adults with type 1 Gaucher disease.
Qual Life Res
; 8(3): 263-8, 1999 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10472157
15.
Physical fine-mapping of a deletion spanning the Norrie gene.
Hum Genet
; 84(1): 22-6, 1989 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-2606473
16.
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
Hum Mutat
; 9(5): 402-8, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9143918
17.
Structural features of human monoamine oxidase A elucidated from cDNA and peptide sequences.
J Neurochem
; 51(4): 1321-4, 1988 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-3418353
18.
Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.
J Neurochem
; 54(1): 242-7, 1990 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-2293615
19.
Norrie disease gene: characterization of deletions and possible function.
Genomics
; 16(2): 533-5, 1993 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8314592
20.
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Ophthalmology
; 103(12): 2128-34, 1996 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9003348