Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
暂无分享,去创建一个
D. Baralle | S. Bhattacharya | A. Moore | L. Messiaen | B. Loeys | E. Traboulsi | B. Leroy | G. Black | M. Reddy | B. Lafaut | F. Manson | B. Puech | J. de Laey | P. Kestelyn | R. Perveen | J. Laey | J. Yardley | N. Hart‐Holden | A. Moore | G. C. Black
[1] P. Campochiaro,et al. Analysis of the VMD2 Promoter and Implication of E-box Binding Factors in Its Regulation* , 2004, Journal of Biological Chemistry.
[2] A. Winterpacht,et al. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. , 2004, American journal of human genetics.
[3] U. Kellner,et al. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD) , 2003, Human mutation.
[4] W. Krivit,et al. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) , 2003, Human mutation.
[5] J. Nathans,et al. Structure-Function Analysis of the Bestrophin Family of Anion Channels* , 2003, Journal of Biological Chemistry.
[6] C. Wadelius,et al. Expression and localization of bestrophin during normal mouse development. , 2003, Investigative ophthalmology & visual science.
[7] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[8] F. Munier,et al. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family , 2003, The British journal of ophthalmology.
[9] C. Hayward,et al. Mutations in SOX2 cause anophthalmia , 2003, Nature Genetics.
[10] D. Baralle,et al. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay , 2003, Journal of medical genetics.
[11] S. Bhattacharya,et al. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma , 2003, The British journal of ophthalmology.
[12] J. Nathans,et al. The vitelliform macular dystrophy protein defines a new family of chloride channels , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[13] W. Spileers,et al. Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree , 2001, Graefe's Archive for Clinical and Experimental Ophthalmology.
[14] M. Boulton,et al. The role of the retinal pigment epithelium: Topographical variation and ageing changes , 2001, Eye.
[15] R. Mcinnes,et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 , 2000, Nature Genetics.
[16] M. Boehnke,et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. , 1998, American journal of human genetics.
[17] M. Metzker,et al. Identification of the gene responsible for Best macular dystrophy , 1998, Nature Genetics.
[18] R. Ferrell,et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD , 1998, Nature Genetics.
[19] A. Baldini,et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome , 1998, Nature Genetics.
[20] V. Sheffield,et al. Identification of a Gene That Causes Primary Open Angle Glaucoma , 1997, Science.
[21] J. Carey,et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome , 1996, Nature Genetics.
[22] I. Jackson,et al. The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina , 1995, Current Biology.
[23] A. Ferré-D’Amaré,et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences , 1994, Nature Genetics.
[24] I. Hanson,et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly , 1994, Nature Genetics.
[25] E. Traboulsi,et al. Autosomal dominant vitreoretinochoroidopathy. Report of the third family. , 1993, Archives of ophthalmology.
[26] D. Han,et al. Electro-oculography in autosomal dominant vitreoretinochoroidopathy. , 1992, Archives of ophthalmology.
[27] G. Fishman,et al. Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. , 1989, Ophthalmology.
[28] J. Ott,et al. Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.
[29] G. Fishman,et al. Autosomal dominant vitreoretinochoroidopathy (ADVIRC). , 1984, The British journal of ophthalmology.
[30] G. Fishman,et al. Autosomal dominant vitreoretinochoroidopathy. , 1982, Archives of ophthalmology.
[31] S. Nordström,et al. Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children , 1980, Clinical genetics.
[32] B. Kerr,et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. , 2002, Human molecular genetics.
[33] J. Hache,et al. Hérédo-dystrophie choriorétinovitréenne, microcornée, glaucome et cataracte. , 1993 .
[34] B. Delbosc,et al. Physiologie de la cornée : l'hydratation stromale et sa régulation , 1993 .
[35] M. Ashburner. A Laboratory manual , 1989 .