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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25.
Am J Hum Genet. 2006.
PMID: 16960809
Free PMC article.
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulat …
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related …
Primary disorders of hyperpigmentation.
Fulk CS.
Fulk CS.
J Am Acad Dermatol. 1984 Jan;10(1):1-16. doi: 10.1016/s0190-9622(84)80032-8.
J Am Acad Dermatol. 1984.
PMID: 6420449
Early German case reports provide insight into the spectrum of uncommon pigmentary conditions, such as dermatopathia pigmentosa reticularis. The Japanese observe pigmentary problems frequently, have presented some of the more unusual cases, and have re …
Early German case reports provide insight into the spectrum of uncommon pigmentary conditions, such as dermatopathia pigmentosa …
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Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.
Sprecher E, et al.
J Invest Dermatol. 2002 Sep;119(3):692-8. doi: 10.1046/j.1523-1747.2002.01855.x.
J Invest Dermatol. 2002.
PMID: 12230514
Free article.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. ...O …
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dys …
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Reticulate postinflammatory hyperpigmentation with band-like mucin deposition.
Noto G, Pravatà G, Aricò M.
Noto G, et al.
Int J Dermatol. 1998 Nov;37(11):829-32. doi: 10.1046/j.1365-4362.1998.00447.x.
Int J Dermatol. 1998.
PMID: 9865868
METHODS: We describe clinicopathologic features of two patients presenting with the association of pigmentary incontinence with an unusual diffuse, band-like dermal deposition of mucin, clinically presenting with reticular pigmented macular lesions. RESULTS: Two patients were …
METHODS: We describe clinicopathologic features of two patients presenting with the association of pigmentary incontinence with an unusual d …
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