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Limb Deformities, Congenital
Known as:
Congenital deformity NOS of unspecified limb
, CONGENITAL ABNORMALITY OF LIMB
, LIMB MALFORMATION
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Congenital structural deformities of the upper and lower extremities collectively or unspecified.
National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (43)
ADULT SYNDROME
Acromegaloid facial appearance syndrome
Acromicric Dysplasia
Acropectoral syndrome
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Broader (2)
Abnormality of limbs
limb defects
In Blood
Unequal Limb Length
nursing therapy
prevention & control
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Literature Review on Needs of Upper Limb Prosthesis Users
F. Cordella
,
A. Ciancio
,
+4 authors
L. Zollo
Frontiers in Neuroscience
2016
Corpus ID: 6679204
The loss of one hand can significantly affect the level of autonomy and the capability of performing daily living, working and…
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Highly Cited
2015
Highly Cited
2015
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
D. G. Lupiáñez
,
K. Kraft
,
+19 authors
S. Mundlos
Cell
2015
Corpus ID: 15754842
Highly Cited
2010
Highly Cited
2010
Identification of a Primary Target of Thalidomide Teratogenicity
Takumi Ito
,
H. Ando
,
+5 authors
H. Handa
Science
2010
Corpus ID: 17575104
Thalidomide Teratogenicity Target In the late 1950s and early 1960s, thalidomide was prescribed to pregnant women as a cure for…
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Highly Cited
2004
Highly Cited
2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
H. Kulaga
,
C. C. Leitch
,
+7 authors
N. Katsanis
Nature Genetics
2004
Corpus ID: 5559722
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease…
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Highly Cited
2003
Highly Cited
2003
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
L. Lettice
,
S. Heaney
,
+7 authors
E. de Graaff
Human Molecular Genetics
2003
Corpus ID: 2929287
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements…
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Highly Cited
2002
Highly Cited
2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
L. Lettice
,
T. Horikoshi
,
+18 authors
S. Noji
Proceedings of the National Academy of Sciences…
2002
Corpus ID: 39396538
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that…
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Highly Cited
2001
Highly Cited
2001
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation
Y. Hiroi
,
S. Kudoh
,
+4 authors
I. Komuro
Nature Genetics
2001
Corpus ID: 13250085
The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause…
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Highly Cited
2001
Highly Cited
2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
M. Brockington
,
Y. Yuva
,
+19 authors
F. Muntoni
Human Molecular Genetics
2001
Corpus ID: 9615983
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic…
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Highly Cited
1999
Highly Cited
1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
C. Basson
,
Taosheng Huang
,
+18 authors
C. Seidman
Proceedings of the National Academy of Sciences…
1999
Corpus ID: 30291587
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied…
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Highly Cited
1997
Highly Cited
1997
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Craig T. Basson1
,
D. Bachinsky
,
+11 authors
C. Seidman
Nature Genetics
1997
Corpus ID: 30763654
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that…
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