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autosomal dominant trait
Known as:
autosomal dominant traits
National Institutes of Health
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Related topics
Related topics
20 relations
Achondroplasia
Alagille Syndrome
Craniofacial Dysostosis
Elliptocytosis, Hereditary
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Broader (1)
Phenotype
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Connexin Mutants and Cataracts
E. Beyer
,
L. Ebihara
,
V. M. Berthoud
Frontiers in Pharmacology
2013
Corpus ID: 6349371
The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing…
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Review
2005
Review
2005
Non-syndromic multiple supernumerary teeth transmitted as an autosomal dominant trait.
P. Batra
,
R. Duggal
,
H. Parkash
Journal of Oral Pathology & Medicine
2005
Corpus ID: 10707809
Supernumerary teeth are common in the general population and occur more frequently in-patients with family history of such teeth…
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Highly Cited
2003
Highly Cited
2003
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
G. Defazio
,
F. Brancati
,
+7 authors
B. Dallapiccola
Movement Disorders
2003
Corpus ID: 46118905
Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial…
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Highly Cited
2002
Highly Cited
2002
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11
L. Salehi
,
M. Mangino
,
+6 authors
B. Dallapiccola
Human Genetics
2002
Corpus ID: 29912776
Abstract. Idiopathic scoliosis (IS) is a spine deformity of unknown etiology. Family studies have suggested that IS may be…
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Highly Cited
2002
Highly Cited
2002
Regulation of Pancreatic β-Cell Glucokinase: From Basics to Therapeutics
F. Matschinsky
2002
Corpus ID: 43018651
Glucokinase (GK) serves as glucose sensor in pancreatic β-cells and in other glucose sensor cells in the body. Biochemical…
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Highly Cited
1999
Highly Cited
1999
Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families.
A. Govind
,
M. Obhrai
,
R. Clayton
Journal of Clinical Endocrinology and Metabolism
1999
Corpus ID: 24023696
The aim of this study was to obtain evidence for the genetic basis of polycystic ovaries (PCO) and premature male pattern…
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Highly Cited
1998
Highly Cited
1998
Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait.
F. Blei
,
Jeffrey W. Walter
,
S. Orlow
,
D. Marchuk
Archives of Dermatology
1998
Corpus ID: 20077019
BACKGROUND The pathogenesis of infantile hemangiomas is not yet understood. Growth factors and hormonal and mechanical influences…
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Review
1998
Review
1998
The genetics of psoriasis: a complex disorder of the skin and immune system.
J. Bhalerao
,
A. Bowcock
Human Molecular Genetics
1998
Corpus ID: 22033194
In the last few years, molecular genetics analyses have permitted novel insights into psoriasis, a disease characterized by…
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Highly Cited
1983
Highly Cited
1983
Familial cutaneous malignant melanoma: autosomal dominant trait possibly linked to the Rh locus.
M. Greene
,
L. Goldin
,
+6 authors
S. Rowe
Proceedings of the National Academy of Sciences…
1983
Corpus ID: 13762208
Segregation and linkage analyses were undertaken in families with multiple cases of cutaneous malignant melanoma (CMM) and a…
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Review
1979
Review
1979
Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.
A. Chosack
,
E. Eidelman
,
I. Wisotski
,
T. Cohen
Oral surgery, oral medicine, and oral pathology
1979
Corpus ID: 45393396
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