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Limb Deformities, Congenital

Known as: Congenital deformity NOS of unspecified limb, CONGENITAL ABNORMALITY OF LIMB, LIMB MALFORMATION 
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of… Expand
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Highly Cited
2010
Highly Cited
2010
Thalidomide Teratogenicity Target In the late 1950s and early 1960s, thalidomide was prescribed to pregnant women as a cure for… Expand
Highly Cited
2004
Highly Cited
2004
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease… Expand
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Highly Cited
2004
Highly Cited
2004
Exogenous retinoic acid (RA) induces marked effects on limb patterning, but the precise role of endogenous RA in this process has… Expand
Highly Cited
2003
Highly Cited
2003
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements… Expand
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Highly Cited
2002
Highly Cited
2002
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that… Expand
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Highly Cited
2001
Highly Cited
2001
The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause… Expand
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Highly Cited
2001
Highly Cited
2001
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand
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Highly Cited
1999
Highly Cited
1999
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied… Expand
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Highly Cited
1997
Highly Cited
1997
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that… Expand