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Presenile cataract
Known as:
Cataract, presenile
, Presenile cataracts
Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. [HPO:probinson, pmid:17030721…
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National Institutes of Health
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Related topics
Related topics
2 relations
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
FOVEAL HYPOPLASIA 1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Shery Thomas
,
Mervyn G. Thomas
,
+6 authors
I. Gottlob
European Journal of Human Genetics
2014
Corpus ID: 205134468
Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM…
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Highly Cited
2012
Highly Cited
2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
T. Webb
,
M. Matarin
,
+20 authors
A. Hardcastle
American journal of human genetics
2012
Corpus ID: 38131089
Highly Cited
2010
Highly Cited
2010
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
A. Savoia
,
D. De Rocco
,
+16 authors
A. Pecci
Thrombosis and haemostasis
2010
Corpus ID: 3819344
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young…
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Review
2009
Review
2009
MYH9-related platelet disorders.
K. Althaus
,
A. Greinacher
Seminars in thrombosis and hemostasis
2009
Corpus ID: 11787971
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes…
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Highly Cited
2008
Highly Cited
2008
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
A. Pecci
,
E. Panza
,
+23 authors
A. Savoia
Human mutation
2008
Corpus ID: 12650830
MYH9‐related disease (MYH9‐RD) is a rare autosomal‐dominant disorder caused by mutations in MYH9, the gene for the heavy chain of…
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Highly Cited
2005
Highly Cited
2005
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.
Matthew T. Lorincz
,
S. Rainier
,
Donald Thomas
,
J. Fink
Archives of neurology
2005
Corpus ID: 27339432
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurodegenerative disorder caused by 27-sterol…
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Highly Cited
2002
Highly Cited
2002
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
E. Pras
,
E. Levy-Nissenbaum
,
+6 authors
E. Pras
American journal of human genetics
2002
Corpus ID: 29626156
In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and…
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Highly Cited
1998
Highly Cited
1998
Incidence of cataract operations in Finnish male smokers unaffected by alpha tocopherol or beta carotene supplements.
J. Teikari
,
M. Rautalahti
,
+5 authors
O. Heinonen
Journal of epidemiology and community health
1998
Corpus ID: 26815965
OBJECTIVE: To examine the effect of alpha tocopherol and beta carotene supplementation on the incidence of age related cataract…
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1989
1989
Idiopathic presenile cataract formation and galactosaemia.
R. E. Stevens
,
M. Datiles
,
S. Srivastava
,
N. Ansari
,
A. E. Maumenee
,
W. Stark
The British journal of ophthalmology
1989
Corpus ID: 13336631
Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have…
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1982
1982
Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.
F. O'Donnell
,
H. Pappas
Archives of ophthalmology
1982
Corpus ID: 29952483
An autosomal dominant syndrome of mild foveal hypoplasia (visual acuity, 20/50), congenital nystagmus, corneal pannus, and…
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