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Kindler Syndrome.
Youssefian L, Vahidnezhad H, Uitto J. Youssefian L, et al. 2016 Mar 3 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Mar 3 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26937547 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent du …
CLINICAL CHARACTERISTICS: Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is character …
Kindler syndrome.
Lai-Cheong JE, McGrath JA. Lai-Cheong JE, et al. Dermatol Clin. 2010 Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013. Dermatol Clin. 2010. PMID: 19945624 Review.
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced ski
Kindler syndrome.
Ashton GH. Ashton GH. Clin Exp Dermatol. 2004 Mar;29(2):116-21. doi: 10.1111/j.1365-2230.2004.01465.x. Clin Exp Dermatol. 2004. PMID: 14987263 Review.
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. ...Immunofluorescence, gene expression and cell biology studies have shown that k
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by
Kindler Syndrome.
Mendiratta V, Malik M. Mendiratta V, et al. Indian Pediatr. 2018 Jan 15;55(1):85. Indian Pediatr. 2018. PMID: 29396956 No abstract available.
Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.
Mahajan R, Bishnoi A, Manjunath S, Vignesh P, Suri D, Gopal M, Chatterjee D, Jamwal M, De D, Das R, Handa S, Kubba A, Batrani M, Radotra BD. Mahajan R, et al. Clin Exp Dermatol. 2021 Jun;46(4):795-799. doi: 10.1111/ced.14557. Epub 2021 Feb 24. Clin Exp Dermatol. 2021. PMID: 33625737
Electron microscopy revealed a split in the sublamina densa with the absence of anchoring fibrils, suggestive of dystrophic epidermolysis bullosa (EB). Immunofluorescence antigen mapping demonstrated a broad reticulate pattern of staining with collagen IV, VII, and …
Electron microscopy revealed a split in the sublamina densa with the absence of anchoring fibrils, suggestive of dystrophic epidermolysis
Evaluation and treatment of the newborn with epidermolysis bullosa.
Gonzalez ME. Gonzalez ME. Semin Perinatol. 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. Semin Perinatol. 2013. PMID: 23419761 Review.
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement. ...All four major types of EB, namely EB simplex, Junctional EB, Dystrophic EB and Kindler
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and v
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Has C, et al. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Hum Mutat. 2011. PMID: 21936020 Review.
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, …
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Vahidnezhad H, et al. Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11. Matrix Biol. 2018. PMID: 29138120
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. ...Clinical examination of the 33-year old proband, initially diagnosed as Kindler syndrome, revealed widespread blistering, particularly on pretibial areas, poikilod
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. ...Clinical examination of the 33-year old
Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.
White SJ, McLean WH. White SJ, et al. J Dermatol Sci. 2005 Jun;38(3):169-75. doi: 10.1016/j.jdermsci.2004.12.026. Epub 2005 Mar 31. J Dermatol Sci. 2005. PMID: 15927810 Review.
Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse, progressive poikiloderma in later life. ...Two groups have recently shown that the molecular basis of Kindler syndrome is loss o
Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse, progressi
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. Lai-Cheong JE, et al. Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11. Br J Dermatol. 2009. PMID: 19120339 Review.
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is cla
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikilo
108 results