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Congenital Epicanthus
Known as:
EPICANTHUS
, Epicanthal fold
, Epicanthic folds
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A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus…
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National Institutes of Health
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Related topics
Related topics
10 relations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
Hypoglossia-Hypodactylia
LYMPHEDEMA, HEREDITARY, III
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2004
Review
2004
Aging of Oocyte, Ovary, and Human Reproduction
C. Ottolenghi
,
M. Uda
,
+7 authors
A. Forabosco
Annals of the New York Academy of Sciences
2004
Corpus ID: 37741131
Abstract: We review age‐related changes in the ovary and their effect on female fertility, with particular emphasis on follicle…
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Highly Cited
2000
Highly Cited
2000
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.
L. Schibler
,
E. Cribiu
,
A. Oustry-Vaiman
,
J. Furet
,
Daniel Vaiman
Genome Research
2000
Corpus ID: 6083209
To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This…
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1994
1994
Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia
K. A. Ward
,
C. Moss
British Journal of Dermatology
1994
Corpus ID: 19968844
Summary A healthy 14‐month‐old boy had multiple, circular, scar‐like depressions on both temples, which had been present since…
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1991
1991
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3
S. Roberts
,
H. Hughes
,
S. Davies
,
A. Meredith
Journal of Medical Genetics
1991
Corpus ID: 27926833
A case of bilateral split hand and split foot malformation is reported in a boy with a complex rearrangement of chromosome 7…
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Review
1988
Review
1988
Infantile sialic acid storage disease associated with renal disease.
S. Pueschel
,
P. O'shea
,
+4 authors
E. Kolodny
Pediatric Neurology
1988
Corpus ID: 22931893
Review
1985
Review
1985
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
W. Dobyns
,
G. Dewald
,
R. O. Carlson
,
D. Mair
,
V. Michels
American journal of medical genetics
1985
Corpus ID: 45264931
The clinical manifestations and cytogenetic changes of a patient with 46,XY,del(8)(p21.1) are compared with those of nine other…
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1985
1985
Deletion of the distal long arm of chromosome 1: a definable syndrome.
V. P. Johnson
,
L. J. Heck
,
G. Carter
,
J. O. Flom
American journal of medical genetics
1985
Corpus ID: 41986631
Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations…
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1981
1981
Ring chromosome 14: a distinct clinical entity.
Lydia Eviatar
,
M. Harold
,
Nitowsky
,
Martha
,
Wong
Journal of Medical Genetics
1981
Corpus ID: 18158412
An infant girl with ring chromosome 14 is presented. The findings in this patient and in six previously reported cases of a ring…
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Highly Cited
1978
Highly Cited
1978
Partial Trisomies and Deletions of Chromosome 13
R. Coco
,
G. Rey
Pediatric Research
1978
Corpus ID: 46261086
With the advent of new banding techniques there have been increasing numbers of patients with trisomies and deletions for…
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Highly Cited
1978
Highly Cited
1978
A clefting syndrome with ocular anterior chamber defect and lid anomalies.
V. Michels
,
H. M. Hittner
,
A. Beaudet
Jornal de Pediatria
1978
Corpus ID: 31038405
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