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

Year Number of Results
1979 1
1981 1
1983 1
1984 1
1985 3
1986 2
1988 1
1989 3
1990 6
1991 3
1992 3
1993 2
1994 7
1995 9
1996 3
1997 1
1998 4
1999 6
2000 6
2001 1
2002 5
2003 5
2004 6
2005 8
2006 6
2007 7
2008 9
2009 10
2010 5
2011 4
2012 10
2013 8
2014 10
2015 9
2016 10
2017 10
2018 5
2019 15
2020 7
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2022 4
2023 7
2024 5

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207 results

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Page 1
Neurofibromatosis type 1.
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Gutmann DH, et al. Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Nat Rev Dis Primers. 2017. PMID: 28230061 Review.
Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (cafe-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), …
Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (cafe-au-lait macules, skinfold freckling and Lisch n …
Neurofibromatosis type 1.
Anderson JL, Gutmann DH. Anderson JL, et al. Handb Clin Neurol. 2015;132:75-86. doi: 10.1016/B978-0-444-62702-5.00004-4. Handb Clin Neurol. 2015. PMID: 26564071 Review.
The classic manifestations of NF1 include cafe-au-lait macules, skinfold freckling, neurofibromas, brain tumors, iris hamartomas, and characteristic bony lesions. ...
The classic manifestations of NF1 include cafe-au-lait macules, skinfold freckling, neurofibromas, brain tumors, iris hamartomas, and …
Familial skin cancer syndromes: Increased melanoma risk.
Ransohoff KJ, Jaju PD, Tang JY, Carbone M, Leachman S, Sarin KY. Ransohoff KJ, et al. J Am Acad Dermatol. 2016 Mar;74(3):423-34; quiz 435-6. doi: 10.1016/j.jaad.2015.09.070. J Am Acad Dermatol. 2016. PMID: 26892652 Review.
Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. ...
Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanoma …
Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Denayer E, Legius E. Denayer E, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00093. doi: 10.2340/00015555-3429. Acta Derm Venereol. 2020. PMID: 32147744 Free PMC article.
Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. ...In young children with a sporadic form of multiple cafe-au-lait macules with or witho …
Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and b …
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.
Ultraviolet-sensitive syndrome is a rare skin disorder characterised by heterogeneous phenotypic spectrum of skin freckling, telangiectasia and acute sunburn. It usually has an autosomal recessive pattern. ...
Ultraviolet-sensitive syndrome is a rare skin disorder characterised by heterogeneous phenotypic spectrum of skin freckling, telangie …
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C. Kehrer-Sawatzki H, et al. J Dtsch Dermatol Ges. 2022 Mar;20(3):273-277. doi: 10.1111/ddg.14707. Epub 2022 Mar 4. J Dtsch Dermatol Ges. 2022. PMID: 35246941 Review.
In many patients, the diagnosis of NF1 is made clinically based on the presence of cafe-au-lait macules and skinfold freckling, as well as plexiform neurofibromas detectable during early childhood. ...
In many patients, the diagnosis of NF1 is made clinically based on the presence of cafe-au-lait macules and skinfold freckling, as we …
Peutz-Jeghers syndrome: clinicopathology and molecular alterations.
McGarrity TJ, Amos C. McGarrity TJ, et al. Cell Mol Life Sci. 2006 Sep;63(18):2135-44. doi: 10.1007/s00018-006-6080-0. Cell Mol Life Sci. 2006. PMID: 16952058 Free PMC article. Review.
Peutz-Jeghers syndrome (PJS, OMIM 175200) is an unusual inherited intestinal polyposis syndrome associated with distinct peri-oral blue/black freckling. Variable penetrance and clinical heterogeneity make it difficult to determine the exact frequency of PJS. ...
Peutz-Jeghers syndrome (PJS, OMIM 175200) is an unusual inherited intestinal polyposis syndrome associated with distinct peri-oral blue/blac …
Estimating the attributable fraction for melanoma: a meta-analysis of pigmentary characteristics and freckling.
Olsen CM, Carroll HJ, Whiteman DC. Olsen CM, et al. Int J Cancer. 2010 Nov 15;127(10):2430-45. doi: 10.1002/ijc.25243. Int J Cancer. 2010. PMID: 20143394 Free article. Review.
Eligible studies were those that permitted quantitative assessment of the association between histologically confirmed melanoma and hair colour, eye colour, skin phototype and presence of freckling; we identified 66 such studies using citation databases, followed by manual …
Eligible studies were those that permitted quantitative assessment of the association between histologically confirmed melanoma and hair col …
The melanocortin-1 receptor gene polymorphism and association with human skin cancer.
Beaumont KA, Liu YY, Sturm RA. Beaumont KA, et al. Prog Mol Biol Transl Sci. 2009;88:85-153. doi: 10.1016/S1877-1173(09)88004-6. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374726 Review.
The MC1R gene is highly polymorphic in Caucasian populations with a number of MC1R variant alleles associated with red hair, fair skin, freckling, poor tanning, and increased risk of melanoma and nonmelanoma skin cancer. ...
The MC1R gene is highly polymorphic in Caucasian populations with a number of MC1R variant alleles associated with red hair, fair skin, f …
Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.
Thomas NE, Edmiston SN, Kanetsky PA, Busam KJ, Kricker A, Armstrong BK, Cust AE, Anton-Culver H, Gruber SB, Luo L, Orlow I, Reiner AS, Gallagher RP, Zanetti R, Rosso S, Sacchetto L, Dwyer T, Parrish EA, Hao H, Gibbs DC, Frank JS, Ollila DW, Begg CB, Berwick M, Conway K; GEM Study Group. Thomas NE, et al. J Invest Dermatol. 2017 Dec;137(12):2588-2598. doi: 10.1016/j.jid.2017.07.832. Epub 2017 Aug 24. J Invest Dermatol. 2017. PMID: 28842324 Free PMC article.

BRAF(+) were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS(+) with older age relative to the wild type (BRAF(-)/NRAS(-)) melanomas (all P < 0.05). Comparing specific BRAF subtypes to the wild type, BRAF V600E was assoc

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BRAF(+) were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS(+) with older age rela …
207 results