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Year Number of Results
1974 1
2001 1
2002 1
2003 1
2005 3
2009 2
2010 1
2015 1
2016 4
2017 1
2019 2
2020 1
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2022 2
2024 0

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Page 1
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 …
Treatment of pachyonychia congenita.
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C. Milstone LM, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):18-20. doi: 10.1111/j.1087-0024.2005.10203.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250205 Free article. Review.
Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management.
Kratochvilova L, Dostalova T, Schwarz M, Macek M Jr, Marek I, Malíková M, Míšová E. Kratochvilova L, et al. Eur J Paediatr Dent. 2022 Jun;23(2):140-146. doi: 10.23804/ejpd.2022.23.02.12. Eur J Paediatr Dent. 2022. PMID: 35722846 Free article.
AIM: Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal tissues such as skin, hair, teeth, nails, and sweat glands. Patients usually have sparse light hair, deformed nails, and dry s …
AIM: Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal …
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.
Liang J, Von den Hoff J, Lange J, Ren Y, Bian Z, Carels CE. Liang J, et al. Eur J Hum Genet. 2016 Dec;24(12):1663-1670. doi: 10.1038/ejhg.2016.78. Epub 2016 Jul 6. Eur J Hum Genet. 2016. PMID: 27381090 Free PMC article. Review.
In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease causing variants to phenotypic features to shed light on this hitherto unclear association. ...
In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease c …
Diagnosis and management of hair loss in children.
Castelo-Soccio L. Castelo-Soccio L. Curr Opin Pediatr. 2016 Aug;28(4):483-9. doi: 10.1097/MOP.0000000000000376. Curr Opin Pediatr. 2016. PMID: 27214199 Review.
PURPOSE OF REVIEW: Hair loss is common in infants and children and the ability to distinguish why a child is losing hair enables providers to distinguish hair loss that is related to infection, autoimmune conditions, nutrition, medications, trauma/traction, or underlying genetic …
PURPOSE OF REVIEW: Hair loss is common in infants and children and the ability to distinguish why a child is losing hair enables providers t …
Hair shaft abnormalities--clues to diagnosis and treatment.
Itin PH, Fistarol SK. Itin PH, et al. Dermatology. 2005;211(1):63-71. doi: 10.1159/000085582. Dermatology. 2005. PMID: 15983439 Review.
Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. ...Therapy of hair shaft disorders should focus on the cause. In addition, minimizing traumatic influences to hair shafts, such as drying hair with an electric dryer or perman …
Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. ...Therapy of hair shaft disorders …
Ectodermal dysplasia: otolaryngologic manifestations and management.
Daniel E, McCurdy EA, Shashi V, McGuirt WF Jr. Daniel E, et al. Laryngoscope. 2002 Jun;112(6):962-7. doi: 10.1097/00005537-200206000-00005. Laryngoscope. 2002. PMID: 12160292
METHODS: A review of the head and neck manifestations of the spectrum ectodermal dysplasia was undertaken by a retrospective chart review performed at a tertiary care children's hospital combined with a multidisciplinary evaluation by specialties of genetics, dermat …
METHODS: A review of the head and neck manifestations of the spectrum ectodermal dysplasia was undertaken by a retrospective chart re …
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, Dentici ML, Buonuomo PS, Rana I, Colafati GS, Digilio MC, Novelli A, Bartuli A. Vecchio D, et al. Clin Genet. 2022 Aug;102(2):142-148. doi: 10.1111/cge.14150. Epub 2022 May 21. Clin Genet. 2022. PMID: 35575217 Free PMC article.
Oligodontia ectodermal dysplasia--on signs, symptoms, genetics, and outcomes of dental treatment.
Bergendal B. Bergendal B. Swed Dent J Suppl. 2010;(205):13-78, 7-8. Swed Dent J Suppl. 2010. PMID: 20626136
Thirty per cent had low salivary secretion rates while only 11% with no known syndrome reported symptoms from hair, nails, or sweat glands. These are, together with teeth, the ectodermal structures on which it is proposed that a clinical diagnosis of ectodermal dysplasi …
Thirty per cent had low salivary secretion rates while only 11% with no known syndrome reported symptoms from hair, nails, or sweat g …
20 results