Literature DB >> 15466012

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.

B Pal, M D Mohamed, T J Keen, G A Williams, J A Bradbury, E Sheridan, C F Inglehearn.   

Abstract

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Year:  2004        PMID： 15466012      PMCID： PMC1735603          DOI： 10.1136/jmg.2004.020040

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.

Authors:  Hee Jung Yang; You Kyung Lee; Choun-Ki Joo; Jung Il Moon; Jee Won Mok; Myoung Hee Park
Journal:  Korean J Ophthalmol       Date:  2015-07-21

2.  Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.

Authors:  Juliette J Kahle; Natali Gulbahce; Chad A Shaw; Janghoo Lim; David E Hill; Albert-László Barabási; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2010-11-15       Impact factor: 6.150

3.  Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis.

Authors:  Rebecca A Shields; Kara M Cavuoto; Craig A McKeown; Ta C Chang
Journal:  Clin Case Rep       Date:  2015-06-13

4.  Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.

Authors:  Kinga Gołaszewska; Natalia Dub; Emil Saeed; Zofia Mariak; Joanna Konopińska
Journal:  BMC Ophthalmol       Date:  2021-03-29       Impact factor: 2.209

5.  The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

Authors:  Charlotte C Kruijt; Libe Gradstein; Arthur A Bergen; Ralph J Florijn; Benoit Arveiler; Eulalie Lasseaux; Xavier Zanlonghi; Laura Bagdonaite-Bejarano; Anne B Fulton; Claudia Yahalom; Anat Blumenfeld; Yonatan Perez; Ohad S Birk; Gerard C de Wit; Nicoline E Schalij-Delfos; Maria M van Genderen
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-01-03       Impact factor: 4.799

6.  Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6.

Authors:  Lisa S Andersson; Rytis Juras; David T Ramsey; Jessica Eason-Butler; Susan Ewart; Gus Cothran; Gabriella Lindgren
Journal:  BMC Genet       Date:  2008-12-19       Impact factor: 2.797

Review 7.  Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Authors:  James A Poulter; Musallam Al-Araimi; Ivan Conte; Maria M van Genderen; Eamonn Sheridan; Ian M Carr; David A Parry; Mike Shires; Sabrina Carrella; John Bradbury; Kamron Khan; Phillis Lakeman; Panagiotis I Sergouniotis; Andrew R Webster; Anthony T Moore; Bishwanath Pal; Moin D Mohamed; Anandula Venkataramana; Vedam Ramprasad; Rohit Shetty; Murugan Saktivel; Govindasamy Kumaramanickavel; Alex Tan; David A Mackey; Alex W Hewitt; Sandro Banfi; Manir Ali; Chris F Inglehearn; Carmel Toomes
Journal:  Am J Hum Genet       Date:  2013-11-27       Impact factor: 11.025

8.  Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Authors:  C C Kruijt; N E Schalij-Delfos; G C de Wit; R J Florijn; M M van Genderen
Journal:  Sci Rep       Date:  2021-06-02       Impact factor: 4.379

9.  A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.

Authors:  Musallam Al-Araimi; Bishwanath Pal; James A Poulter; Maria M van Genderen; Ian Carr; Tomas Cudrnak; Lawrence Brown; Eamonn Sheridan; Moin D Mohamed; John Bradbury; Manir Ali; Chris F Inglehearn; Carmel Toomes
Journal:  Mol Vis       Date:  2013-11-01       Impact factor: 2.367
  9 in total

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