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Items: 1 to 20 of 65

1.

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

Fachal L, Rodríguez-Pazos L, Ginarte M, Carracedo A, Toribio J, Vega A.

Br J Dermatol. 2014 Apr;170(4):980-2. doi: 10.1111/bjd.12757. No abstract available.

PMID:
24344921
2.

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J.

PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Erratum in: PLoS Genet. 2013 Jun;9(6): doi/10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe.

3.

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E.

Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148.

PMID:
23621129
4.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC.

J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153.

5.

Systemic retinoids in the management of ichthyoses and related skin types.

Digiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR.

Dermatol Ther. 2013 Jan-Feb;26(1):26-38. doi: 10.1111/j.1529-8019.2012.01527.x.

6.

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J.

Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056.

PMID:
22246504
7.

Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.

Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M, Baselga E, Círia S, de Lucas R, Ginarte M, González-Sarmiento R, Torrelo A.

J Am Acad Dermatol. 2012 Aug;67(2):240-4. doi: 10.1016/j.jaad.2011.07.033.

PMID:
22000705
8.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.

Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x.

PMID:
21668430
9.

Malignant skin tumours in patients with inherited ichthyosis.

Natsuga K, Akiyama M, Shimizu H.

Br J Dermatol. 2011 Aug;165(2):263-8. doi: 10.1111/j.1365-2133.2011.10381.x. Review.

PMID:
21517795
10.

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E.

Am J Hum Genet. 2011 Apr 8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011.

11.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E.

Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9.

PMID:
21339420
12.

Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan.

Wu WM, Lee YS.

J Dermatol Sci. 2011 Jan;61(1):62-4. doi: 10.1016/j.jdermsci.2010.10.011. No abstract available.

PMID:
21093221
13.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
14.
15.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.

J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. Review.

PMID:
20643494
16.

Increased melanocytic nevi in patients with inherited ichthyoses: report of a previously undescribed association.

Fernandes JD, Machado MC, Oliveira ZN.

Pediatr Dermatol. 2010 Sep-Oct;27(5):453-8. doi: 10.1111/j.1525-1470.2010.01092.x.

PMID:
20561241
17.

Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography.

Kudla MJ, Timmerman D.

J Ultrasound Med. 2010 Feb;29(2):317-9. No abstract available.

PMID:
20103806
18.
19.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J.

J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346.

20.

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC, Fitzgerald D, Watson RM, Hol FA, Irvine AD.

Br J Dermatol. 2010 Feb 1;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537.x. No abstract available.

PMID:
19863506

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