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Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P. Birtel J, et al. Clin Exp Ophthalmol. 2019 Aug;47(6):779-786. doi: 10.1111/ceo.13516. Epub 2019 May 8. Clin Exp Ophthalmol. 2019. PMID: 30977268
IMPORTANCE: Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clinical diagnosis or as yet unknown genetic causes resulting in specific retinal phenotypes. ...The other selection criteria alone or in combin …
IMPORTANCE: Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clin …
An evaluation of setmelanotide injection for chronic weight management in adult and pediatric patients with obesity due to Bardet-Biedl syndrome.
Lazareva J, Brady SM, Yanovski JA. Lazareva J, et al. Expert Opin Pharmacother. 2023 Apr;24(6):667-674. doi: 10.1080/14656566.2023.2199152. Epub 2023 Apr 6. Expert Opin Pharmacother. 2023. PMID: 37013719 Free PMC article.
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a rare, multisystemic ciliopathy with an incidence of obesity of 89%. Mutations in genes encoding BBS proteins are linked to reduced leptin sensitivity of hypothalamic POMC neurons and reduced activation of the melanocortin-4 re …
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a rare, multisystemic ciliopathy with an incidence of obesity of 89%. Mutations in genes …
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B. Schuster A, et al. Br J Ophthalmol. 2005 Oct;89(10):1258-64. doi: 10.1136/bjo.2004.063933. Br J Ophthalmol. 2005. PMID: 16170112 Free PMC article.
AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. ...Eigh …
AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and descripti …
Association between genotype and phenotype in families with mutations in the ABCA4 gene.
Kjellström U. Kjellström U. Mol Vis. 2014 Jan 7;20:89-104. eCollection 2014. Mol Vis. 2014. PMID: 24453473 Free PMC article.
She was diagnosed with cone rod dystrophy (CRD) while her aunt (age 69) was compound heterozygote for the c768 G>T and c2894 A>G mutations and had autosomal recessive retinitis pigmentosa (arRP). The father (age 61) and the mother (age 60) of the proband were …
She was diagnosed with cone rod dystrophy (CRD) while her aunt (age 69) was compound heterozygote for the c768 G>T and c2894 A>G mutat …
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.
Furu T, Kääriäinen H, Sankila EM, Norio R. Furu T, et al. Clin Genet. 1993 Mar;43(3):160-5. doi: 10.1111/j.1399-0004.1993.tb04463.x. Clin Genet. 1993. PMID: 8500262
As prenatal diagnosis was possible for choroideremia (C), but not for retinitis pigmentosa (RP) in 1988-89, we used a questionnaire to compare the attitudes of C and RP patients, their relatives and C carriers to prenatal diagnosis. ...
As prenatal diagnosis was possible for choroideremia (C), but not for retinitis pigmentosa (RP) in 1988-89, we used a q …
Tapeto-retinal degeneration in four Norwegian counties, II. Diagnostic evaluation of 407 relatives and genetic evaluation of 87 families.
Grøndahl J. Grøndahl J. Clin Genet. 1986 Jan;29(1):17-41. Clin Genet. 1986. PMID: 3948428
After completion of the examinations the mode of inheritance differed from that previously estimated in 50% of the families. Of the 48 families with "classical" retinitis pigmentosa, 8% showed autosomal dominant, 50% autosomal recessive and 2% X-linked recessive inh …
After completion of the examinations the mode of inheritance differed from that previously estimated in 50% of the families. Of the 48 famil …