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3. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Chan I; Liu L; Hamada T; Sethuraman G; McGrath JA Exp Dermatol; 2007 Nov; 16(11):881-90. PubMed ID: 17927570 [TBL] [Abstract][Full Text] [Related]
4. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily. Lupo I; Cefalu AB; Bongiorno MR; Daniele O; Valenti V; Noto D; Camarda R; Savettieri G; Aricò M; Averna MR Br J Dermatol; 2005 Nov; 153(5):1019-22. PubMed ID: 16225617 [TBL] [Abstract][Full Text] [Related]
5. Lipoid proteinosis: report of three familial cases. Ehsani AH; Ghiasi M; Robati RM Dermatol Online J; 2006 Jan; 12(1):16. PubMed ID: 16638384 [TBL] [Abstract][Full Text] [Related]
6. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. Salih MA; Abu-Amero KK; Alrasheed S; Alorainy IA; Liu L; McGrath JA; Van Maldergem L; Al-Faky YH; AlSuhaibani AH; Oystreck DT; Bosley TM BMC Med Genet; 2011 Feb; 12():31. PubMed ID: 21349189 [TBL] [Abstract][Full Text] [Related]
7. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. Hamada T; Wessagowit V; South AP; Ashton GH; Chan I; Oyama N; Siriwattana A; Jewhasuchin P; Charuwichitratana S; Thappa DM; Jeevankumar B; Lenane P; Krafchik B; Kulthanan K; Shimizu H; Kaya TI; Erdal ME; Paradisi M; Paller AS; Seishima M; Hashimoto T; McGrath JA J Invest Dermatol; 2003 Mar; 120(3):345-50. PubMed ID: 12603844 [TBL] [Abstract][Full Text] [Related]
8. A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. Uchida T; Hayashi H; Inaoki M; Miyamoto T; Fujimoto W Br J Dermatol; 2007 Jan; 156(1):152-7. PubMed ID: 17199583 [TBL] [Abstract][Full Text] [Related]
9. Amygdalae and striatum calcification in lipoid proteinosis. Gonçalves FG; de Melo MB; de L Matos V; Barra FR; Figueroa RE AJNR Am J Neuroradiol; 2010 Jan; 31(1):88-90. PubMed ID: 19696137 [TBL] [Abstract][Full Text] [Related]
10. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hamada T; McLean WH; Ramsay M; Ashton GH; Nanda A; Jenkins T; Edelstein I; South AP; Bleck O; Wessagowit V; Mallipeddi R; Orchard GE; Wan H; Dopping-Hepenstal PJ; Mellerio JE; Whittock NV; Munro CS; van Steensel MA; Steijlen PM; Ni J; Zhang L; Hashimoto T; Eady RA; McGrath JA Hum Mol Genet; 2002 Apr; 11(7):833-40. PubMed ID: 11929856 [TBL] [Abstract][Full Text] [Related]
11. Intracranial calcifications associated with epilepsy: A case report of lipoid proteinosis. Agredano PM; Del Barrio CM; Martinez MC; Cabrera CA Seizure; 2020 Dec; 83():172-174. PubMed ID: 33161246 [TBL] [Abstract][Full Text] [Related]
12. Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene. Chelvan HT; Narasimhan M; Shankaran Subramanian A; Subramaniam S Australas J Dermatol; 2012 Nov; 53(4):e79-82. PubMed ID: 23157792 [TBL] [Abstract][Full Text] [Related]
13. Lipoid Proteinosis: A Rare Cause of Hoarseness. Loos E; Kerkhofs L; Laureyns G J Voice; 2019 Mar; 33(2):155-158. PubMed ID: 30385011 [TBL] [Abstract][Full Text] [Related]
14. A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient. Izadi F; Mahjoubi F; Farhadi M; Tavakoli MM; Samanian S Genet Mol Res; 2012 Nov; 11(4):3955-60. PubMed ID: 23212332 [TBL] [Abstract][Full Text] [Related]
15. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Youssefian L; Vahidnezhad H; Daneshpazhooh M; Abdollahzadeh S; Talari H; Khoshnevisan A; Chams-Davatchi C; Mobasher R; Li Q; Uitto J; Akhondzadeh S; Tabrizi M Exp Dermatol; 2015 Mar; 24(3):220-2. PubMed ID: 25529926 [TBL] [Abstract][Full Text] [Related]