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Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defec …
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short statur …
Poliosis circumscripta: overview and underlying causes.
Sleiman R, Kurban M, Succaria F, Abbas O. Sleiman R, et al. J Am Acad Dermatol. 2013 Oct;69(4):625-33. doi: 10.1016/j.jaad.2013.05.022. Epub 2013 Jul 12. J Am Acad Dermatol. 2013. PMID: 23850259 Review.
Although traditionally known as "white forelock," poliosis circumscripta, defined as a localized patch of white hair in a group of hair follicles, can involve any hairy area on the body including the scalp, eyebrows, and eyelashes. Microscopically, poliosis demonstrates ei …
Although traditionally known as "white forelock," poliosis circumscripta, defined as a localized patch of white hair in a group of hair foll …
The etiology of osteosarcoma.
Ottaviani G, Jaffe N. Ottaviani G, et al. Cancer Treat Res. 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. Cancer Treat Res. 2009. PMID: 20213384 Review.
Patients may have a few or multiple clinical features including skin rash, small stature, skeletal dysplasias, sparse or absent scalp hair, eyebrows or eyelashes, juvenile cataracts, and gastrointestinal disturbance including chronic emesis and diarrhea; its molecul …
Patients may have a few or multiple clinical features including skin rash, small stature, skeletal dysplasias, sparse or absent scalp …
Social significance of the eyebrows and periorbital complex.
Carruthers J, Carruthers A. Carruthers J, et al. J Drugs Dermatol. 2014 Jan;13(1 Suppl):s7-s11. J Drugs Dermatol. 2014. PMID: 24385129 Review.
The eyebrow is simple to regard, but complicated to understand. Over the centuries it has been used as an indicator of social status, gender, and level of authority. ...As a result, a whole industry has grown up around such varied techniques as plucking and redrawing, or g …
The eyebrow is simple to regard, but complicated to understand. Over the centuries it has been used as an indicator of social status, …
Eyebrow restoration: the approach, considerations, and technique in follicular unit transplantation.
Tomc CM, Malouf PJ. Tomc CM, et al. J Cosmet Dermatol. 2015 Dec;14(4):310-4. doi: 10.1111/jocd.12170. Epub 2015 Aug 6. J Cosmet Dermatol. 2015. PMID: 26248542 Review.
Eyebrows serve a key role in eye protection, communication, and self-expression. ...When combined with the natural thinning of the brow with aging, the result can be a sparse or even absent eyebrow hair over time. Follicular unit transplantation provides a me
Eyebrows serve a key role in eye protection, communication, and self-expression. ...When combined with the natural thinning of the br
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y. Sun Y, et al. Am J Med Genet A. 2017 Feb;173(2):510-514. doi: 10.1002/ajmg.a.38025. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759909 Review.
They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. ...A hairy back can be observed as frequently as hairy elbows in pa …
They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further …
The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene.
Ahmad W, Panteleyev AA, Christiano AM. Ahmad W, et al. J Investig Dermatol Symp Proc. 1999 Dec;4(3):240-3. doi: 10.1038/sj.jidsp.5640220. J Investig Dermatol Symp Proc. 1999. PMID: 10674375 Free article. Review.
In individuals affected with this form of hair loss, hairs are typically absent from the scalp, and patients are nearly completely devoid of eyebrows, eyelashes, axillary and pubic hair, following shedding of the natural hair shortly after birth. ...
In individuals affected with this form of hair loss, hairs are typically absent from the scalp, and patients are nearly completely de …
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S. Tatar A, et al. Am J Med Genet A. 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. Am J Med Genet A. 2009. PMID: 19213036 Review.
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis …
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental ret …
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (11/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hyper …
This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (11/12), poor …
Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.
Li K, Ann Thomas M, Haber RM. Li K, et al. J Cutan Med Surg. 2013 May-Jun;17(3):212-8. doi: 10.2310/7750.2011.11017. J Cutan Med Surg. 2013. PMID: 23673306 Review.
Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation....
Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absen