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Items: 1 to 20 of 451

1.

Predictive phenotyping of inherited ichthyosis by next generation DNA sequencing.

Saito R, Boyce A, Hsu CK, Rashidghamat E, Hide M, Wedgeworth EK, Flohr C, Mellerio JE, McGrath JA.

Br J Dermatol. 2016 Jun 13. doi: 10.1111/bjd.14807. [Epub ahead of print]

PMID:
27291450
2.

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.

Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA.

JAMA Dermatol. 2016 May 25. doi: 10.1001/jamadermatol.2016.1187. [Epub ahead of print] No abstract available.

PMID:
27224495
3.

Frontal fibrosing alopecia: reflections and hypotheses on etiology and pathogenesis.

Tziotzios C, Stefanato CM, Fenton DA, Simpson MA, McGrath JA.

Exp Dermatol. 2016 May 20. doi: 10.1111/exd.13071. [Epub ahead of print]

PMID:
27198858
4.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA.

Turk J Pediatr. 2015 Jul-Aug;57(4):385-387.

5.

Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP.

Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP.

Br J Dermatol. 2016 Apr 1. doi: 10.1111/bjd.14617. [Epub ahead of print]

PMID:
27037756
6.

Incontinentia pigmenti in a father and daughter.

Rashidghamat E, Hsu CK, Nanda A, Liu L, Al-Ajmi H, McGrath JA.

Br J Dermatol. 2016 Apr 1. doi: 10.1111/bjd.14615. [Epub ahead of print]

PMID:
27037530
7.

Venturing into the New Science of Nucleases.

Tolarová M, McGrath JA, Tolar J.

J Invest Dermatol. 2016 Apr;136(4):742-5. doi: 10.1016/j.jid.2016.01.021.

PMID:
27012560
8.

Finasteride is of uncertain utility in treating frontal fibrosing alopecia.

Tziotzios C, Fenton DA, Stefanato CM, McGrath JA.

J Am Acad Dermatol. 2016 Apr;74(4):e73-4. doi: 10.1016/j.jaad.2015.09.076. No abstract available.

PMID:
26979373
9.

Rare inherited skin diseases and the Genomics England 100 000 Genome Project.

McGrath JA.

Br J Dermatol. 2016 Feb;174(2):257-8. doi: 10.1111/bjd.14362. No abstract available.

PMID:
26871914
10.

Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.

Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP, Kopelan B, Robinson EC.

J Invest Dermatol. 2016 Feb;136(2):352-8. doi: 10.1016/j.jid.2015.10.050. Review.

PMID:
26802230
11.

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

Georgiadis C, Syed F, Petrova A, Abdul-Wahab A, Lwin SM, Farzaneh F, Chan L, Ghani S, Fleck RA, Glover L, McMillan JR, Chen M, Thrasher AJ, McGrath JA, Di WL, Qasim W.

J Invest Dermatol. 2016 Jan;136(1):284-92. doi: 10.1038/JID.2015.364.

12.

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C.

J Invest Dermatol. 2016 Mar;136(3):719-21. doi: 10.1016/j.jid.2015.11.024. Epub 2015 Dec 30. No abstract available.

PMID:
26743602
13.

Recently Identified Forms of Epidermolysis Bullosa.

McGrath JA.

Ann Dermatol. 2015 Dec;27(6):658-66. doi: 10.5021/ad.2015.27.6.658. Epub 2015 Dec 7. Review.

14.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.

Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.

15.

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Takeichi T, Sugiura K, Hsu CK, Nomura T, Takama H, Simpson MA, Shimizu H, McGrath JA, Akiyama M.

Acta Derm Venereol. 2016 Apr 12;96(4):557-559. doi: 10.2340/00015555-2307.

16.

Lipoid proteinosis.

Mcgrath JA.

Handb Clin Neurol. 2015;132:317-22. doi: 10.1016/B978-0-444-62702-5.00023-8.

PMID:
26564090
17.

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M.

J Dermatol Sci. 2016 Feb;81(2):134-6. doi: 10.1016/j.jdermsci.2015.10.015. Epub 2015 Oct 27. No abstract available.

PMID:
26547112
18.

Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia.

Zeledón M, Eckart N, Taub M, Vernon H, Szymanksi M, Wang R, Chen PL, Nestadt G, McGrath JA, Sawa A, Pulver AE, Avramopoulos D, Valle D.

Mol Neuropsychiatry. 2015 May;1(1):36-46. Epub 2015 Feb 27.

19.

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes.

Almeida FV, Walko G, McMillan JR, McGrath JA, Wiche G, Barber AH, Connelly JT.

J Cell Sci. 2015 Dec 15;128(24):4475-86. doi: 10.1242/jcs.173435. Epub 2015 Nov 2.

20.

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M, McGrath JA, Cerio R, Kivisaari A, Kähäri VM, Hodivala-Dilke K, Brennan CH, Chen M, Marshall JF, O'Toole EA.

J Natl Cancer Inst. 2015 Oct 16;108(1). pii: djv293. doi: 10.1093/jnci/djv293. Print 2016 Jan.

PMID:
26476432
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