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Items: 1 to 20 of 126

1.

Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation.

Ranjan P, Mishra D, Plesec T, Pratap VB, Singh AD.

Ophthalmic Genet. 2015 Jun;36(2):160-4. doi: 10.3109/13816810.2013.838275. Epub 2013 Sep 30.

PMID:
24079542
2.

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.

PMID:
16225617
3.

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. Erratum in: J Invest Dermatol. 2004 Oct;123(4):805.

4.

Lipoid proteinosis in two siblings: a report from south India.

Shivaswamy KN, Thappa DM, Laxmisha C, Jayanthi S.

Dermatol Online J. 2003 Dec;9(5):12.

PMID:
14996385
5.

Molecular basis of lipoid proteinosis in a Libyan family.

Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, McGrath JA.

Clin Exp Dermatol. 2003 Sep;28(5):545-8.

PMID:
12950350
6.

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. doi: 10.1111/j.1440-0960.2011.00803.x. Epub 2011 Aug 18.

PMID:
23157792
7.

Lipoid proteinosis: case report and review of the literature.

Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM.

Acta Otorhinolaryngol Ital. 2006 Jun;26(3):162-7. Review.

8.

Clinical and molecular abnormalities in lipoid proteinosis.

Desmet S, Devos SA, Chan I, Hamada T, Dhooge I, McGrath JA, Naeyaert JM.

Eur J Dermatol. 2005 Sep-Oct;15(5):344-6.

PMID:
16172042
9.

Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature.

Callizo M, Ibáñez-Flores N, Laue J, Cuadrado V, Graell X, Sancho JM.

Orbit. 2011 Oct;30(5):242-4. doi: 10.3109/01676830.2011.579685. Review.

PMID:
21957955
10.

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A.

Diagn Pathol. 2011 Jul 26;6:69. doi: 10.1186/1746-1596-6-69.

11.

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.

Izadi F, Mahjoubi F, Farhadi M, Kalayinia S, Bidmeshkipour A, Tavakoli MM, Samanian S.

Indian J Med Res. 2016 Mar;143(3):303-7. doi: 10.4103/0971-5916.182620.

12.

Lipoid proteinosis in a Chinese patient.

Xu XT, Chen Q, Siong-See Lee J.

Am J Dermatopathol. 2014 Jun;36(6):e108-13. doi: 10.1097/DAD.0000000000000006.

PMID:
24521736
13.

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Afifi HH, Amr KS, Tosson AMS, Hassan TA, Mehrez MI, El-Kamah GY.

Gene. 2017 Sep 10;628:308-314. doi: 10.1016/j.gene.2017.07.026. Epub 2017 Jul 15.

PMID:
28720532
14.

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 24;12:31. doi: 10.1186/1471-2350-12-31.

15.

Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis.

Han B, Zhang X, Liu Q, Chen X, Zhu X.

Acta Derm Venereol. 2007;87(5):387-9.

16.

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

Nasir M, Rahman SB, Sieber CM, Mir A, Latif A, Ahmad N, Malik SA, Hameed A.

Mol Biol Rep. 2014;41(4):2085-92. doi: 10.1007/s11033-014-3057-1. Epub 2014 Jan 12.

PMID:
24413997
17.

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. Review.

PMID:
17927570
18.

Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.

Luo XY, Li Q, Tan Q, Yang H, Xiang J, Miao JK, Wang H.

J Dermatol. 2016 Jul;43(7):804-7. doi: 10.1111/1346-8138.13261. Epub 2016 Jan 18.

PMID:
26778481
19.

Ocular manifestations in lipoid proteinosis: A rare clinical entity.

Kamath SJ, Marthala H, Manapragada B.

Indian J Ophthalmol. 2015 Oct;63(10):793-5. doi: 10.4103/0301-4738.171517.

20.

[Lipoid proteinosis of Urbach-Wiethe: a case report].

Daldon PE, Baraldi Moreira M, Talarico SR.

Dermatol Online J. 2011 Nov 15;17(11):8. Portuguese.

PMID:
22136864

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