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Quoted phrase not found in phrase index: "Myopia 23, autosomal recessive"
Page 1
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. ...The patients had …
Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel …
Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.
Yang Z, Xiao X, Li S, Zhang Q. Yang Z, et al. Mol Vis. 2009;15:312-8. Epub 2009 Feb 9. Mol Vis. 2009. PMID: 19204786 Free PMC article.
PURPOSE: A linkage study on autosomal recessive high myopia (arHM) has not been reported, although several loci for autosomal dominant high myopia (adHM) have been mapped. ...RESULTS: The pedigree and clinical data of the family indicate that th …
PURPOSE: A linkage study on autosomal recessive high myopia (arHM) has not been reported, although several loci for …
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.
A defect of N- or N- plus O-glycosylation of serum transferrins and ApoCIII was observed in 10 patients. An unusual cobblestone-like cortical malformation over the frontal and parietal regions was seen in eight patients and cerebellar abnormalities, including two patients …
A defect of N- or N- plus O-glycosylation of serum transferrins and ApoCIII was observed in 10 patients. An unusual cobblestone-like …
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ. Khaliq S, et al. Am J Med Genet A. 2007 Dec 1;143A(23):2768-74. doi: 10.1002/ajmg.a.31739. Am J Med Genet A. 2007. PMID: 17975799
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. ...Previously germline mutations in COL18A1 (21q22.3) were detected in some families, but in other ki …
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal de …
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Nallasamy S, et al. Mol Vis. 2007 Feb 15;13:229-36. Mol Vis. 2007. PMID: 17327828 Free PMC article.
Autosomal dominant (AD) non-syndromic high-grade myopia has been mapped to chromosomes 18p11.31, 12q21-23, 17q21-23, 7q36, 2q37.1, 7p15.3, 15q12-13, 3q26, 4q12, 8p23, 4q22-q27, 1p36, and Xq23-q25. ...SimWalk2 software was used for multipoint linkage ba …
Autosomal dominant (AD) non-syndromic high-grade myopia has been mapped to chromosomes 18p11.31, 12q21-23, 17q21-23 …
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Ratnamala U, et al. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. doi: 10.1167/iovs.10-6815. Invest Ophthalmol Vis Sci. 2011. PMID: 21357393 Free PMC article.
The degree of myopia was variable in both families, ranging from -6 to -23 D (mean, -8.48 D) with the majority >7.0 D. ...RESULTS: Marker DXYS154, which is located within the pseudoautosomal region in distal Xq28 (PAR2; pseudoautosomal region 2), gave a combined …
The degree of myopia was variable in both families, ranging from -6 to -23 D (mean, -8.48 D) with the majority >7.0 D. ...R …
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.
Goyal S, Singh K, Uppal A, Vanita V. Goyal S, et al. BMC Ophthalmol. 2023 May 11;23(1):210. doi: 10.1186/s12886-023-02936-y. BMC Ophthalmol. 2023. PMID: 37170250 Free PMC article.
OBJECTIVE: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia. METHODS: Whole-exome sequencing (WES …
OBJECTIVE: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pig …