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

Year Number of Results
1964 1
1968 2
1970 2
1971 5
1972 3
1973 1
1975 2
1977 4
1978 3
1980 2
1983 2
1985 3
1986 1
1987 5
1988 12
1989 12
1990 7
1991 3
1992 12
1993 8
1994 12
1995 13
1996 17
1997 12
1998 10
1999 14
2000 33
2001 43
2002 20
2003 21
2004 28
2005 36
2006 18
2007 23
2008 21
2009 25
2010 35
2011 39
2012 30
2013 35
2014 39
2015 46
2016 43
2017 32
2018 28
2019 27
2020 30
2021 39
2022 28
2023 24
2024 4

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836 results

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Page 1
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, e …
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced gro …
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ. Cerezo-Cayuelas M, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. Orphanet J Rare Dis. 2022. PMID: 36253866 Free PMC article. Review.
We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. ...The initial age of patients ranged from 34 months to 24 years. …
We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthope …
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Wright JT, et al. Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31. Am J Med Genet A. 2019. PMID: 30703280 Free PMC article. Review.
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a work …
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification syst …
Hemangioma-related syndromes.
Valdebran M, Wine Lee L. Valdebran M, et al. Curr Opin Pediatr. 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. Curr Opin Pediatr. 2020. PMID: 32692048 Review.
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR syndrome. In addition, the importance of recognizing visceral hemangiomatosis is highlighted. ...Segmental hemangiomas of the head and ne …
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR s …
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius s …
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibroma …
Hypohidrotic ectodermal dysplasia: clinical and molecular review.
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G. Reyes-Reali J, et al. Int J Dermatol. 2018 Aug;57(8):965-972. doi: 10.1111/ijd.14048. Epub 2018 May 31. Int J Dermatol. 2018. PMID: 29855039 Review.
Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. ...The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of …
Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. ...T …
p63-associated disorders.
Rinne T, Brunner HG, van Bokhoven H. Rinne T, et al. Cell Cycle. 2007 Feb 1;6(3):262-8. doi: 10.4161/cc.6.3.3796. Epub 2007 Feb 3. Cell Cycle. 2007. PMID: 17224651 Free article. Review.
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different synd …
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, or …
WNT10A, dermatology and dentistry.
Doolan BJ, Onoufriadis A, Kantaputra P, McGrath JA. Doolan BJ, et al. Br J Dermatol. 2021 Dec;185(6):1105-1111. doi: 10.1111/bjd.20601. Epub 2021 Sep 7. Br J Dermatol. 2021. PMID: 34184264 Review.
This review focuses on how variants in the WNT10A gene have been associated with various ectodermal disorders and how such changes may have clinical relevance to dermatologists and dentists. Germline mutations in WNT10A underlie several forms of autosomal recessive ecto …
This review focuses on how variants in the WNT10A gene have been associated with various ectodermal disorders and how such changes ma …
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
Linear ubiquitin chain-binding domains.
Fennell LM, Rahighi S, Ikeda F. Fennell LM, et al. FEBS J. 2018 Aug;285(15):2746-2761. doi: 10.1111/febs.14478. Epub 2018 Apr 30. FEBS J. 2018. PMID: 29679476 Free article. Review.
836 results