Keyword

microphthalmia

Description: A congenital eye malformation in which one or both eyeballs are abnormally small, often studied in clinical genetics and ophthalmology.

Primary topic: Ocular Disorders and Treatments (47%)

Wikidata ID: wiki/Q1557239

OpenAlex ID: keywords/microphthalmia

Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006

2010 · Samantha E. Parker, Cara T. Mai, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 1,891

National population‐based estimates for major birth defects, 2010–2014

2019 · Cara T. Mai, Jennifer L. Isenburg, et al. · Birth Defects Research · 948

SOX2 is a dose-dependent regulator of retinal neural progenitor competence

2006 · Olena V. Taranova, Scott T. Magness, et al. · Genes & Development · 558

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Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation

1996 · Margit Burmeister, Jakub Novak, et al. · Nature Genetics · 522

Anophthalmia and microphthalmia

2007 · Amit S Verma, David R FitzPatrick · Orphanet Journal of Rare Diseases · 404

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Altered cell cycle regulation in the lens of HPV-16 E6 or E7 transgenic mice: implications for tumor suppressor gene function in development.

1994 · H Pan, A E Griep · Genes & Development · 404

Eye Morphogenesis and Patterning of the Optic Vesicle

2010 · Sabine Fuhrmann · Current topics in developmental biology/Current Topics in Developmental Biology · 401

Intrauterine herpes simplex virus infections

1987 · Cecelia Hutto, Ann Arvin, et al. · The Journal of Pediatrics · 372

Vascular Endothelial Growth Factor Expression in the Retinal Pigment Epithelium Is Essential for Choriocapillaris Development and Visual Function

2005 · Alexander G. Marneros, Jie Fan, et al. · American Journal Of Pathology · 358

Targeted Ablation of Connexin50 in Mice Results in Microphthalmia and Zonular Pulverulent Cataracts

1998 · Thomas W. White, Daniel A. Goodenough, et al. · The Journal of Cell Biology · 358

Anesthetics as tEratogens: Nitrous Oxide Is Fetotoxic, Xenon Is Not

1980 · Geoffrey A. Lane, Michael L. Nahrwold, et al. · Science · 346

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

2004 · David Ng, Nalin Thakker, et al. · Nature Genetics · 322

Different cis -Acting Elements Are Involved in the Regulation of TRP1 and TRP2 Promoter Activities by Cyclic AMP: Pivotal Role of M Boxes (GTCATGTGCT) and of Microphthalmia

1998 · Corine Bertolotto, Roser Buscà, et al. · Molecular and Cellular Biology · 317

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Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

2005 · Nicola K. Ragge, Alison G. Brown, et al. · The American Journal of Human Genetics · 310

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Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

1998 · Eva Bermejo, Mar�a-Luisa Mart�nez-Fr�as · American Journal of Medical Genetics · 308

Sox1 directly regulates the gamma -crystallin genes and is essential for lens development in mice

1998 · S. Nishiguchi, H. Wood, et al. · Genes & Development · 290

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

2000 · E. Ferda Percin, Lynda A. Ploder, et al. · Nature Genetics · 288

Haploinsufficient Phenotypes inBmp4Heterozygous Null Mice and Modification by Mutations inGli3andAlx4

1997 · N.Ray Dunn, Glenn E. Winnier, et al. · Developmental Biology · 286

Hyperthermia as a teratogen: A review of experimental studies and their clinical significance

1986 · M. J. Edwards · Teratogenesis Carcinogenesis and Mutagenesis · 274

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

2002 · D Morrison, D FitzPatrick, et al. · Journal of Medical Genetics · 272

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Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma

2002 · R. V. Jamieson · Human Molecular Genetics · 269

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The genetic architecture of microphthalmia, anophthalmia and coloboma

2014 · Kathleen A. Williamson, David R. FitzPatrick · European Journal of Medical Genetics · 266

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

2003 · Scott Houghtaling, Cynthia Timmers, et al. · Genes & Development · 260

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Review: Hyperthermia and fever during pregnancy

2006 · Marshall J. Edwards · Birth Defects Research Part A Clinical and Molecular Teratology · 254

Sequence of developmental alterations following acute ethanol exposure in mice: Craniofacial features of the fetal alcohol syndrome

1983 · Kathleen K. Sulik, Malcolm C. Johnston · American Journal of Anatomy · 251

Works count: 5,053

Citation count: 81,880