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Items: 1 to 20 of 5874

1.

At first sight or second glance: Clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.

Toberer F, Happle R, Schneiderbauer R, Hausser I, Kröhl V, Epple A, Moog U, Enk AH, Lonsdorf AS.

J Eur Acad Dermatol Venereol. 2017 Mar 25. doi: 10.1111/jdv.14242. [Epub ahead of print]

PMID:
28342182
2.

Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.

Ferrari B, Morita L, Choate K, Hu RH.

Dermatol Online J. 2017 Feb 15;23(2). pii: 13030/qt8vx6n6n1.

PMID:
28329493
3.

Lamellar Ichthyosis in Sub-Saharan Africa: Social Stigmatization and Therapeutic Difficulties.

Ahogo Kouadio C, Enoh J, Gbery Ildevert P, Cissé L, Allou AS.

JAMA Dermatol. 2017 Mar 22. doi: 10.1001/jamadermatol.2016.5792. [Epub ahead of print] No abstract available.

PMID:
28329203
4.

Long term follow up of mucous membrane grafting for cicatricial ectropion in Ichthyosis: A case report.

Alkatan HM, Aljebreen MA, Alsuhaibani AH.

Int J Surg Case Rep. 2017 Feb 16;33:21-23. doi: 10.1016/j.ijscr.2017.02.008. [Epub ahead of print]

5.

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.

Shi H, Qi XF, Liu TT, Hao Q, Li XH, Liang LL, Wang YM, Cui ZH.

BMC Ophthalmol. 2017 Mar 16;17(1):29. doi: 10.1186/s12886-017-0423-5.

6.

Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

Washio K, Sumi M, Nakata K, Fukunaga A, Yamana K, Koda T, Morioka I, Nishigori C, Yamanishi K.

J Dermatol. 2017 Mar 11. doi: 10.1111/1346-8138.13823. [Epub ahead of print]

PMID:
28295493
7.

Neu-Laxova Syndrome: An Unusual Association with Kyphosis.

Kaur A, Suranagi V, Patil K, Bannur H.

Turk Patoloji Derg. 2017 Feb 4. doi: 10.5146/tjpath.2015.01353. [Epub ahead of print]

8.

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M.

Cytogenet Genome Res. 2017 Mar 3. doi: 10.1159/000458469. [Epub ahead of print]

PMID:
28253503
9.

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T.

PLoS Genet. 2017 Mar 1;13(3):e1006651. doi: 10.1371/journal.pgen.1006651. eCollection 2017 Mar 1.

10.

PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.

Ohno Y, Kamiyama N, Nakamichi S, Kihara A.

Nat Commun. 2017 Mar 1;8:14610. doi: 10.1038/ncomms14610.

11.

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

Hirabayashi T, Anjo T, Kaneko A, Senoo Y, Shibata A, Takama H, Yokoyama K, Nishito Y, Ono T, Taya C, Muramatsu K, Fukami K, Muñoz-Garcia A, Brash AR, Ikeda K, Arita M, Akiyama M, Murakami M.

Nat Commun. 2017 Mar 1;8:14609. doi: 10.1038/ncomms14609.

12.

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.

Bauer A, Hiemesch T, Jagannathan V, Neuditschko M, Bachmann I, Rieder S, Mikko S, Penedo MC, Tarasova N, Vitková M, Sirtori N, Roccabianca P, Leeb T, Welle MM.

G3 (Bethesda). 2017 Feb 24. pii: g3.117.039511. doi: 10.1534/g3.117.039511. [Epub ahead of print]

13.

Diminished Protein-Bound ω-Hydroxylated Ceramides In The Skin Of Ichthyosis Patients With 12r-Lox Or Elox-3 Deficiency.

Dick A, Tantcheva-Poór I, Oji V, Giehl KA, Fischer J, Krieg P, Schneider H, Rauh M.

Br J Dermatol. 2017 Feb 24. doi: 10.1111/bjd.15406. [Epub ahead of print]

PMID:
28235238
14.

Systemic allergic contact dermatitis caused by methyl aminolaevulinate in a patient with keratosis-ichthyosis-deafness syndrome.

Al Malki A, Marguery MC, Giordano-Labadie F, Konstantinou MP, Mokeddem L, Lamant L, Paul C, Maza A, Mazereeuw-Hautier J.

Contact Dermatitis. 2017 Mar;76(3):190-192. doi: 10.1111/cod.12703. No abstract available.

PMID:
28220562
15.

Cutaneous manifestations in disorders of hepatobiliary system.

Godara SK, Thappa DM, Pottakkatt B, Hamide A, Barath J, Munisamy M, Chiramel MJ.

Indian Dermatol Online J. 2017 Jan-Feb;8(1):9-15. doi: 10.4103/2229-5178.198760.

16.

Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies.

Andersen YM, Egeberg A, Balslev E, Jørgensen CL, Szecsi PB, Stender S, Kaae J, Linneberg A, Gislason G, Skov L, Elias PM, Thyssen JP.

J Eur Acad Dermatol Venereol. 2017 Feb 18. doi: 10.1111/jdv.14172. [Epub ahead of print]

PMID:
28213896
17.

Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

Gulasi S.

Iran J Pediatr. 2016 Jul 26;26(5):e2442. doi: 10.5812/ijp.2442. eCollection 2016 Jul 26.

18.

Congenital upper eyelids ectropion in Down's syndrome.

Corredor-Osorio R, Tovilla-Pomar JL, Tovilla-Canales JL.

GMS Ophthalmol Cases. 2017 Feb 3;7:Doc03. doi: 10.3205/oc000054. eCollection 2017 Feb 3.

19.

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y.

Hum Mol Genet. 2016 Oct 15;25(20):4484-4493. doi: 10.1093/hmg/ddw277. No abstract available.

PMID:
28173123
20.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.

J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.

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