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Items: 1 to 20 of 121

1.

Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome.

Niculescu L, Ruini C, Srour J, Salzer S, Schönbuchner I, von Braunmühl T, Ruzicka T, Hohenleutner U, Giehl KA, Fischer J, Wollenberg A.

Acta Derm Venereol. 2019 Mar 1;99(3):345-346. doi: 10.2340/00015555-3087. No abstract available.

2.

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.

Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM.

Pediatr Dermatol. 2014 Sep-Oct;31(5):612-4. doi: 10.1111/pde.12170. Epub 2013 Jun 12.

PMID:
23756328
3.

Beneficial effect of acitretin in Chanarin-Dorfman syndrome.

Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

PMID:
21981352
4.

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D.

Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. Erratum in: Orphanet J Rare Dis. 2011 Feb 21;6(1):6.

5.

Dorfman-Chanarin syndrome in two female siblings: a case report and discussion on approach and management.

Chander R, Varghese B, Garg T, Mittal S, Singh S.

Dermatol Online J. 2011 Apr 15;17(4):7.

6.

Chanarin-Dorfman syndrome.

Demir B, Sen A, Bilik L, Deveci U, Ozercan IH, Cicek D, Dogan Y.

Clin Exp Dermatol. 2017 Aug;42(6):699-701. doi: 10.1111/ced.13163. Epub 2017 Jun 21. No abstract available.

PMID:
28636073
7.

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Durdu M, Missaglia S, Moro L, Tavian D.

BMC Med Genet. 2018 May 29;19(1):88. doi: 10.1186/s12881-018-0610-0.

8.

Jordan's anomaly in a case of Chanarin-Dorfman syndrome.

Pike GN, Jones S, Coassin S, Kronenberg F, Will A.

Br J Haematol. 2011 Nov;155(4):412. doi: 10.1111/j.1365-2141.2011.08780.x. Epub 2011 Jun 21. No abstract available.

PMID:
21689090
9.

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.

Tamhankar PM, Iyer S, Sanghavi S, Khopkar U.

J Postgrad Med. 2014 Jul-Sep;60(3):332-4. doi: 10.4103/0022-3859.138826.

10.

Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Gupta N, Gothwal S, Satpathy AK, Missaglia S, Tavian D, Das P, Timila D, Kabra M.

Gene. 2016 Jan 10;575(2 Pt 1):359-62. doi: 10.1016/j.gene.2015.09.004. Epub 2015 Sep 6.

PMID:
26353074
11.

Dorfman-Chanarin syndrome.

Chilkar S, Paikrao P, Shah I.

Indian J Gastroenterol. 2012 Jun;31(3):147-8. doi: 10.1007/s12664-012-0212-2. No abstract available.

PMID:
22798180
12.

Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.

Ohno Y, Nara A, Nakamichi S, Kihara A.

J Dermatol Sci. 2018 Dec;92(3):245-253. doi: 10.1016/j.jdermsci.2018.11.005. Epub 2018 Nov 20.

PMID:
30527376
13.

Chanarin-Dorfman syndrome: A case report and review of the literature.

Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H.

Arab J Gastroenterol. 2015 Sep-Dec;16(3-4):142-4. doi: 10.1016/j.ajg.2015.06.006. Epub 2015 Oct 28. Review.

PMID:
26520282
14.

[Dorfman-Chanarin syndrome--a neutral lipid storage disease].

Wollenberg A, Schaller M, Röschinger W, Schirren CG, Wolff H.

Hautarzt. 1997 Oct;48(10):753-8. Review. German.

PMID:
9441170
15.

Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up.

Gupta P, Kaur G.

Indian Pediatr. 2005 Oct;42(10):1054-5. No abstract available.

16.

Dorfman-Chanarin syndrome: case report with multisystem involvement.

Hassoun M, El ZZ, Noun P, Beani M, Fakhoury H, Mouawad P, Inati A.

Pediatr Ann. 2008 May;37(5):353-7, 359-60. No abstract available.

PMID:
18543546
17.

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E.

Eur J Med Genet. 2015 Apr;58(4):238-42. doi: 10.1016/j.ejmg.2015.01.011. Epub 2015 Feb 14.

PMID:
25682902
18.

Chanarin-Dorfman syndrome.

Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A.

Turk J Gastroenterol. 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014.

19.

Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome.

Ben Ameur S, Aloulou H, Wali M, Alibi S, Chaari M, Kallel C, Kamoun T, Hachicha M.

Tunis Med. 2015 Jul;93(7):482-3. No abstract available.

20.

Chanarin-Dorfman Syndrome.

Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z.

J Coll Physicians Surg Pak. 2016 Sep;26(9):787-9. doi: 2437.

PMID:
27671187

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