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Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Siegel DH, et al. Among authors: mallory sb. Am J Hum Genet. 2003 Jul;73(1):174-87. doi: 10.1086/376609. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789646 Free PMC article.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Among authors: mallory sb. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.
Cutaneous manifestations of hyper-IgE syndrome in infants and children.
Chamlin SL, McCalmont TH, Cunningham BB, Esterly NB, Lai CH, Mallory SB, Mancini AJ, Tamburro J, Frieden IJ. Chamlin SL, et al. Among authors: mallory sb. J Pediatr. 2002 Oct;141(4):572-5. doi: 10.1067/mpd.2002.127503. J Pediatr. 2002. PMID: 12378200
Lymphangioma circumscriptum treated with pulsed dye laser.
Lai CH, Hanson SG, Mallory SB. Lai CH, et al. Among authors: mallory sb. Pediatr Dermatol. 2001 Nov-Dec;18(6):509-10. doi: 10.1046/j.1525-1470.2001.1862001.x. Pediatr Dermatol. 2001. PMID: 11841640
Congenital calcinosis cutis of the ear.
Lai CH, Farah R, Mallory SB. Lai CH, et al. Among authors: mallory sb. J Am Acad Dermatol. 2003 Jul;49(1):122-4. doi: 10.1067/mjd.2003.235. J Am Acad Dermatol. 2003. PMID: 12833023
102 results