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Year Number of Results
1977 1
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1987 4
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1991 9
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1993 6
1994 11
1995 7
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1997 3
1998 4
1999 4
2000 7
2001 11
2002 6
2003 4
2004 6
2005 6
2006 6
2007 6
2008 10
2009 10
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236 results

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The following term was not found in PubMed: Holoprosencephaly-postaxial
Page 1
Polydactyly of the Hand.
Comer GC, Potter M, Ladd AL. Comer GC, et al. J Am Acad Orthop Surg. 2018 Feb 1;26(3):75-82. doi: 10.5435/JAAOS-D-16-00139. J Am Acad Orthop Surg. 2018. PMID: 29309292 Review.
It is most often found in isolation; however, rarely, it may be associated with genetic syndromes. Polydactyly is classified as postaxial, preaxial, or central depending on the radioulnar location of the duplicated digits. ...Central polydactyly is much less …
It is most often found in isolation; however, rarely, it may be associated with genetic syndromes. Polydactyly is classified a …
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J. Farrugia MC, et al. Neonatal Netw. 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. Neonatal Netw. 2016. PMID: 27194607 Review.
Polydactyly, also known as hyperdactyly, is a common congenital limb defect, which can present with various morphologic phenotypes. Apart from cosmetic and functional impairments, it can be the first indication of an underlying syndrome in the newborn. Usually, it f
Polydactyly, also known as hyperdactyly, is a common congenital limb defect, which can present with various morphologic phenotypes. A
GLI3-related polydactyly: a review.
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. Al-Qattan MM, et al. Clin Genet. 2017 Nov;92(5):457-466. doi: 10.1111/cge.12952. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28224613 Review.
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. ...These four entities are: the preaxi …
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, th …
Ciliopathy: Alstrom Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. ...There is no poly
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 d …
A review of polydactyly and its inheritance: Connecting the dots.
Bubshait DK. Bubshait DK. Medicine (Baltimore). 2022 Dec 16;101(50):e32060. doi: 10.1097/MD.0000000000032060. Medicine (Baltimore). 2022. PMID: 36550802 Free PMC article. Review.
OBJECTIVE: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. ...The phenotypic and genetic variability of polydactyly make …
OBJECTIVE: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactyli
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixe …
Townes-Brocks syndrome.
Powell CM, Michaelis RC. Powell CM, et al. J Med Genet. 1999 Feb;36(2):89-93. J Med Genet. 1999. PMID: 10051003 Free PMC article. Review.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. ...Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few....
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. ...Most patients …
Polydactyly a review and update of a common congenital hand difference.
Wessel LE, Daluiski A, Trehan SK. Wessel LE, et al. Curr Opin Pediatr. 2020 Feb;32(1):120-124. doi: 10.1097/MOP.0000000000000871. Curr Opin Pediatr. 2020. PMID: 31851054 Review.
Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions. ...The pediatrician should be aware of potential associated conditions, such as chondroectodermal dysplasia or Ellis-van Creveld syndrome for ulnar polydactyly. SUMMARY:
Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions. ...The pediatrician should be aware of pote
Preaxial polydactyly of the foot.
Burger EB, Baas M, Hovius SER, Hoogeboom AJM, van Nieuwenhoven CA. Burger EB, et al. Acta Orthop. 2018 Feb;89(1):113-118. doi: 10.1080/17453674.2017.1383097. Epub 2017 Sep 26. Acta Orthop. 2018. PMID: 28946786 Free PMC article. Review.
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. ...Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, …
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associa …
Inherited cerebrorenal syndromes.
Schurman SJ, Scheinman SJ. Schurman SJ, et al. Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124. Nat Rev Nephrol. 2009. PMID: 19701229 Review.
Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. ...Bardet-Biedl syndrome is a clinically var …
Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review ex …
236 results