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Items: 1 to 20 of 5703

1.

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
2.

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.

PMID:
28217465
3.

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
4.

Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

Gulasi S.

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

5.

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.

6.

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
7.

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 Feb 6. pii: 90171. doi: 10.1172/JCI90171. [Epub ahead of print]

PMID:
28165343
8.

Mutations in sphingosine-1-phosphase lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 Feb 6. pii: 89626. doi: 10.1172/JCI89626. [Epub ahead of print]

PMID:
28165339
9.

Revertant Mosaicism Repair Skin Lesions in a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome by Second-site Mutations in Connexin 26.

Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML.

Hum Mol Genet. 2017 Feb 1. doi: 10.1093/hmg/ddx017. [Epub ahead of print] No abstract available.

PMID:
28158657
10.

Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea.

Teye K, Numata S, Krol RP, Ishii N, Matsuda M, Lee JB, Hamada T, Hashimoto T.

J Dermatol Sci. 2017 Jan 22. pii: S0923-1811(16)30846-5. doi: 10.1016/j.jdermsci.2017.01.009. [Epub ahead of print] No abstract available.

PMID:
28143684
11.

Total skin electron therapy as treatment for epitheliotropic lymphoma in a dog.

Santoro D, Kubicek L, Lu B, Craft W, Conway J.

Vet Dermatol. 2017 Jan 29. doi: 10.1111/vde.12415. [Epub ahead of print]

PMID:
28133821
12.

[Epidermal barrier - molecular structure and disorders in selected ichthyoses].

Śniegórska D, Kowalewski C, Wertheim-Tysarowska K.

Postepy Biochem. 2016;62(1):36-45. Review. Polish.

PMID:
28132443
13.

Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.

Gonçalves CI, Fonseca F, Borges T, Cunha F, Lemos MC.

Hum Reprod. 2017 Jan 24. doi: 10.1093/humrep/dew354. [Epub ahead of print]

PMID:
28122887
14.

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

Casal ML, Wang P, Mauldin EA, Lin G, Henthorn PS.

PLoS One. 2017 Jan 25;12(1):e0170708. doi: 10.1371/journal.pone.0170708.

15.

Epidermolytic Ichthyosis Sine Epidermolysis.

Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E.

Am J Dermatopathol. 2017 Jan 17. doi: 10.1097/DAD.0000000000000674. [Epub ahead of print]

PMID:
28121638
16.

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.

Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.

Br J Dermatol. 2017 Jan 23. doi: 10.1111/bjd.15315. [Epub ahead of print]

PMID:
28112794
17.

Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome.

Calderón-Castrat X, Vega-Zuñiga J, Velásquez F, Ballona R.

Pediatr Dermatol. 2017 Jan 23. doi: 10.1111/pde.13069. [Epub ahead of print]

PMID:
28111777
18.

16 novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.

Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FP, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J.

Br J Dermatol. 2017 Jan 17. doi: 10.1111/bjd.15308. [Epub ahead of print]

PMID:
28093717
19.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476.

20.

Autosomal recessive Keratoderma-Ichthyosis-Deafness (ARKID) syndrome is caused by VPS33B mutations affecting Rab protein interaction and collagen modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P.

J Invest Dermatol. 2016 Dec 22. pii: S0022-202X(16)32800-7. doi: 10.1016/j.jid.2016.12.010. [Epub ahead of print]

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