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Microphthalmos
Known as:
Simple microphthalmos
, Microphthalmia
, Microphthalmos [Disease/Finding]
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A congenital abnormality characterized by the presence of an abnormally small eye globe.
National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (10)
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Behrens Baumann Dust syndrome
Cataract, congenital, with microcornea or slight microphthalmia
Kaplowitz Bodurtha syndrome
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Adams Oliver syndrome
Aicardi's syndrome
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
Bilateral microphthalmos
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Broader (1)
Eye Abnormalities
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis
Agnes Roczniak-Ferguson
,
Constance S. Petit
,
+5 authors
S. Ferguson
Science Signaling
2012
Corpus ID: 18089088
The nuclear translocation of a transcription factor that promotes lysosomal biogenesis is inhibited when lysosomal function is…
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Highly Cited
2010
Highly Cited
2010
Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006.
Samantha E. Parker
,
Cara T Mai
,
+8 authors
A. Correa
Birth defects research. Clinical and molecular…
2010
Corpus ID: 42230476
BACKGROUND The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual…
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Review
2006
Review
2006
MITF: master regulator of melanocyte development and melanoma oncogene.
Carmit Levy
,
M. Khaled
,
D. Fisher
Trends in Molecular Medicine
2006
Corpus ID: 38685845
Highly Cited
2005
Highly Cited
2005
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
L. Garraway
,
H. Widlund
,
+15 authors
W. Sellers
Nature
2005
Corpus ID: 4315152
Systematic analyses of cancer genomes promise to unveil patterns of genetic alterations linked to the genesis and spread of human…
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Review
2005
Review
2005
Perivascular Epithelioid Cell Neoplasms of Soft Tissue and Gynecologic Origin: A Clinicopathologic Study of 26 Cases and Review of the Literature
A. Folpe
,
T. Mentzel
,
H. Lehr
,
C. Fisher
,
Bonnie L. Balzer
,
S. Weiss
American Journal of Surgical Pathology
2005
Corpus ID: 13544120
PEComas, occasionally associated with the tuberous sclerosis complex, are defined by the presence of perivascular epithelioid…
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Review
2004
Review
2004
Melanocytes and the microphthalmia transcription factor network.
E. Steingrímsson
,
N. Copeland
,
N. Jenkins
Annual Review of Genetics
2004
Corpus ID: 25513359
The first mouse microphthalmia transcription factor (Mitf ) mutation was discovered over 60 years ago, and since then over 24…
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Review
2000
Review
2000
Cyclic AMP a key messenger in the regulation of skin pigmentation.
R. Buscà
,
R. Ballotti
Pigment Cell Research
2000
Corpus ID: 9361648
Compelling evidence has been gathered indicating that pro-opiomelanocortin peptides, alpha-melanocyte stimulating hormone (alpha…
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Highly Cited
1999
Highly Cited
1999
nacre encodes a zebrafish microphthalmia-related protein that regulates neural-crest-derived pigment cell fate.
J. Lister
,
C. P. Robertson
,
T. Lepage
,
Stephen L. Johnson
,
D. Raible
Development
1999
Corpus ID: 9640001
We report the isolation and identification of a new mutation affecting pigment cell fate in the zebrafish neural crest…
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Highly Cited
1994
Highly Cited
1994
microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.
T. Hemesath
,
E. Steingrímsson
,
+7 authors
D. Fisher
Genes & Development
1994
Corpus ID: 7100178
The microphthalmia (mi) gene appears essential for pigment cell development and/or survival, based on its mutation in mi mice. It…
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Highly Cited
1993
Highly Cited
1993
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
C. Hodgkinson
,
K. J. Moore
,
+4 authors
H. Arnheiter
Cell
1993
Corpus ID: 19698441
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