Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1954 1
1975 1
1976 1
1977 3
1978 1
1979 2
1980 2
1981 1
1982 1
1983 2
1985 4
1987 3
1988 3
1989 3
1990 6
1991 3
1992 4
1993 6
1994 11
1995 11
1996 11
1997 9
1998 14
1999 16
2000 10
2001 9
2002 9
2003 13
2004 13
2005 13
2006 13
2007 21
2008 12
2009 14
2010 21
2011 23
2012 26
2013 16
2014 25
2015 31
2016 22
2017 22
2018 26
2019 33
2020 33
2021 42
2022 32
2023 29
2024 10

Text availability

Article attribute

Article type

Publication date

Search Results

551 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Short-rib thoracic dysplasia 6 with or without polydactyly"
Page 1
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. ...Mutations lead to defective cilia accounting in part for the pleiotropic …
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly …
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG. Soper JR, et al. Skeletal Radiol. 2019 Apr;48(4):517-525. doi: 10.1007/s00256-018-3086-2. Epub 2018 Oct 19. Skeletal Radiol. 2019. PMID: 30341712 Free PMC article. Review.
MATERIALS AND METHODS: We reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), comprising musculoskeletal histology slides from 30 children affected by thalidomide with radiographs of hands (19 cases) and feet (4 cases). RESULTS: …
MATERIALS AND METHODS: We reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), comprising …
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M. Perez-Lopez LM, et al. Curr Pediatr Rev. 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. Curr Pediatr Rev. 2018. PMID: 29366421 Review.
OBJECTIVE: Radial polydactyly is a common upper limb malformation. This paper is a comprehensive analysis of radial polydactyly, its genetic explanation, classification, surgical techniques, functional results, as well as present and future scientific evidence on th …
OBJECTIVE: Radial polydactyly is a common upper limb malformation. This paper is a comprehensive analysis of radial polydactyly …
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.
Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the fo …
Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observ …
Cleft hand.
Ogino T. Ogino T. Hand Clin. 1990 Nov;6(4):661-71. Hand Clin. 1990. PMID: 2176655 Review.
Typical cleft hand, central polydactyly, and syndactyly should be classified together as manifestations of the same entity, that is, failure of induction of finger rays. ...When the cleft is closed at approximately 1 year of age, spontaneous correction of the flexion defor …
Typical cleft hand, central polydactyly, and syndactyly should be classified together as manifestations of the same entity, that is, …
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. ...Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p1 …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retar …
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. ...In this review, we focus on skelet …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K, Li W, Rosenblum ND. McClelland K, et al. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):264-278. doi: 10.1002/ajmg.c.31999. Epub 2022 Sep 27. Am J Med Genet C Semin Med Genet. 2022. PMID: 36165461
Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic hamartoma, mesoaxial polydactyly and a truncating variant in the middle third of the GLI-Kruppel family member 3 (GLI3) gene. ...These results provide a foundation …
Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic hamartoma, mesoaxial polydac …
A multidisciplinary review of triphalangeal thumb.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. Potuijt JWP, et al. J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14. J Hand Surg Eur Vol. 2019. PMID: 30318985 Free PMC article. Review.
Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomali …
Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insig …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as …
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrosp …
551 results