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Items: 1 to 50 of 170

1.

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.

Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W.

Hum Gene Ther. 2019 Aug 5. doi: 10.1089/hum.2019.049. [Epub ahead of print]

PMID:
31288584
2.

Persistent kallikrein 5 activation induces atopic dermatitis-like skin architecture independent of PAR2 activity.

Zhu Y, Underwood J, Macmillan D, Shariff L, O'Shaughnessy R, Harper JI, Pickard C, Friedmann PS, Healy E, Di WL.

J Allergy Clin Immunol. 2017 Nov;140(5):1310-1322.e5. doi: 10.1016/j.jaci.2017.01.025. Epub 2017 Feb 24.

PMID:
28238749
3.

Infantile haemangioma.

Léauté-Labrèze C, Harper JI, Hoeger PH.

Lancet. 2017 Jul 1;390(10089):85-94. doi: 10.1016/S0140-6736(16)00645-0. Epub 2017 Jan 13. Review.

PMID:
28089471
4.

A mechanistic target of rapamycin complex 1/2 (mTORC1)/V-Akt murine thymoma viral oncogene homolog 1 (AKT1)/cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in patients with atopic dermatitis.

Naeem AS, Tommasi C, Cole C, Brown SJ, Zhu Y, Way B, Willis Owen SA, Moffatt M, Cookson WO, Harper JI, Di WL, Brown SJ, Reinheckel T, O'Shaughnessy RF.

J Allergy Clin Immunol. 2017 Apr;139(4):1228-1241. doi: 10.1016/j.jaci.2016.09.052. Epub 2016 Nov 29.

5.

Treatment of infantile haemangiomas: recommendations of a European expert group.

Hoeger PH, Harper JI, Baselga E, Bonnet D, Boon LM, Ciofi Degli Atti M, El Hachem M, Oranje AP, Rubin AT, Weibel L, Léauté-Labrèze C.

Eur J Pediatr. 2015 Jul;174(7):855-65. doi: 10.1007/s00431-015-2570-0. Epub 2015 May 29. Review.

PMID:
26021855
6.

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

Kinsler VA, Drury S, Khan A, Waelchli R, Rukaite G, Barnicoat A, Lench N, Harper JI, O'Shaughnessy RF.

Br J Dermatol. 2015 Jan;172(1):262-4. doi: 10.1111/bjd.13361. Epub 2014 Dec 9. No abstract available.

7.

Propranolol for infantile haemangiomas: single centre experience of 250 cases and proposed therapeutic protocol.

Solman L, Murabit A, Gnarra M, Harper JI, Syed SB, Glover M.

Arch Dis Child. 2014 Dec;99(12):1132-6. doi: 10.1136/archdischild-2014-306514. Epub 2014 Aug 14.

PMID:
25123404
8.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA.

J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1.

9.

Identifying a hyperkeratosis signature in autosomal recessive congenital ichthyosis: Mdm2 inhibition prevents hyperkeratosis in a rat ARCI model.

Youssef G, Ono M, Brown SJ, Kinsler VA, Sebire NJ, Harper JI, O'Shaughnessy RFL.

J Invest Dermatol. 2014 Mar;134(3):858-861. doi: 10.1038/jid.2013.374. Epub 2013 Sep 4. No abstract available.

10.

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Weidinger S, Willis-Owen SA, Kamatani Y, Baurecht H, Morar N, Liang L, Edser P, Street T, Rodriguez E, O'Regan GM, Beattie P, Fölster-Holst R, Franke A, Novak N, Fahy CM, Winge MC, Kabesch M, Illig T, Heath S, Söderhäll C, Melén E, Pershagen G, Kere J, Bradley M, Lieden A, Nordenskjold M, Harper JI, McLean WH, Brown SJ, Cookson WO, Lathrop GM, Irvine AD, Moffatt MF.

Hum Mol Genet. 2013 Dec 1;22(23):4841-56. doi: 10.1093/hmg/ddt317. Epub 2013 Jul 25.

11.

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.

Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA.

J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9.

PMID:
23582566
12.

Great Ormond Street Hospital treatment guidelines for use of propranolol in infantile isolated subglottic haemangioma.

Bajaj Y, Kapoor K, Ifeacho S, Jephson CG, Albert DM, Harper JI, Hartley BE.

J Laryngol Otol. 2013 Mar;127(3):295-8. doi: 10.1017/S0022215112003192. Epub 2013 Feb 1.

PMID:
23369213
13.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20. No abstract available.

14.

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia.

Rodgers W, Ancliff P, Ponting CP, Sanchez-Pulido L, Burns S, Hayman M, Kimonis V, Sebire N, Bulstrode N, Harper JI.

Br J Dermatol. 2013 Mar;168(3):665-7. doi: 10.1111/bjd.12016. Epub 2012 Nov 2. No abstract available.

PMID:
22924337
15.

Inflammatory skin and bowel disease linked to ADAM17 deletion.

Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.

16.

Misdiagnosis and delay in referral of children with localized scleroderma.

Weibel L, Laguda B, Atherton D, Harper JI.

Br J Dermatol. 2011 Dec;165(6):1308-13. doi: 10.1111/j.1365-2133.2011.10600.x. Epub 2011 Nov 2.

PMID:
21895625
17.

Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression.

Di WL, Semenova E, Larcher F, Del Rio M, Harper JI, Thrasher AJ, Qasim W.

Hum Gene Ther. 2012 Jan;23(1):83-90. doi: 10.1089/hum.2011.091.

18.

Mediastinal involvement in lymphangiomatosis: a previously unreported MRI sign.

Shah V, Shah S, Barnacle A, Sebire NJ, Brock P, Harper JI, McHugh K.

Pediatr Radiol. 2011 Aug;41(8):985-92. doi: 10.1007/s00247-011-2124-1. Epub 2011 Jun 10.

PMID:
21660638
19.

A proposal for classification of entities combining vascular malformations and deregulated growth.

Oduber CE, van der Horst CM, Sillevis Smitt JH, Smeulders MJ, Mendiratta V, Harper JI, van Steensel MA, Hennekam RC.

Eur J Med Genet. 2011 May-Jun;54(3):262-71. doi: 10.1016/j.ejmg.2011.02.007. Epub 2011 Feb 26.

PMID:
21356335
20.

Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.

Di WL, Larcher F, Semenova E, Talbot GE, Harper JI, Del Rio M, Thrasher AJ, Qasim W.

Mol Ther. 2011 Feb;19(2):408-16. doi: 10.1038/mt.2010.201. Epub 2010 Sep 28.

21.

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

Yilmaz A, Hamel N, Schwartz CE, Houlston RS, Harper JI, Foulkes WD.

J Hum Genet. 2010 Sep;55(9):627-30. doi: 10.1038/jhg.2010.70. Epub 2010 Jun 17.

PMID:
20555334
22.

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.

O'Shaughnessy RF, Choudhary I, Harper JI.

Hum Mol Genet. 2010 Jul 1;19(13):2594-605. doi: 10.1093/hmg/ddq145. Epub 2010 Apr 12.

PMID:
20385541
23.

Propranolol for complicated infantile haemangiomas: a case series of 30 infants.

Manunza F, Syed S, Laguda B, Linward J, Kennedy H, Gholam K, Glover M, Giardini A, Harper JI.

Br J Dermatol. 2010 Feb 1;162(2):466-8. doi: 10.1111/j.1365-2133.2009.09597.x. Epub 2010 Jan 6. No abstract available.

PMID:
20055816
24.

A study of matrix metalloproteinase expression and activity in atopic dermatitis using a novel skin wash sampling assay for functional biomarker analysis.

Harper JI, Godwin H, Green A, Wilkes LE, Holden NJ, Moffatt M, Cookson WO, Layton G, Chandler S.

Br J Dermatol. 2010 Feb 1;162(2):397-403. doi: 10.1111/j.1365-2133.2009.09467.x. Epub 2009 Aug 20.

PMID:
19804592
25.

Validation of a protocol for the assessment of skin temperature and blood flow in childhood localised scleroderma.

Howell KJ, Lavorato A, Visentin MT, Smith RE, Schaefer G, Jones CD, Weibel L, Denton CP, Harper JI, Woo P.

Skin Res Technol. 2009 Aug;15(3):346-56. doi: 10.1111/j.1600-0846.2009.00371.x.

PMID:
19624432
26.

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.

Di WL, Hennekam RC, Callard RE, Harper JI.

Br J Dermatol. 2009 Aug;161(2):404-12. doi: 10.1111/j.1365-2133.2009.09231.x. Epub 2009 May 12.

PMID:
19438860
27.

Neonatal haemangiomatosis associated with placental chorioangiomas: report of three cases and review of the literature.

Hoeger PH, Maerker JM, Kienast AK, Syed SB, Harper JI.

Clin Exp Dermatol. 2009 Jul;34(5):e78-80. doi: 10.1111/j.1365-2230.2009.03221.x. Epub 2009 May 5.

PMID:
19438546
28.

Bullous pemphigoid in an infant using complementary medicine.

Purvis DJ, Bhogal BS, Harper JI.

Clin Exp Dermatol. 2009 Mar;34(2):195-8. doi: 10.1111/j.1365-2230.2008.02815.x.

PMID:
19187301
29.

Linear morphoea follows Blaschko's lines.

Weibel L, Harper JI.

Br J Dermatol. 2008 Jul;159(1):175-81. doi: 10.1111/j.1365-2133.2008.08647.x. Epub 2008 Jul 1.

PMID:
18503590
30.

Histopathological features of Proteus syndrome.

Hoey SE, Eastwood D, Monsell F, Kangesu L, Harper JI, Sebire NJ.

Clin Exp Dermatol. 2008 May;33(3):234-8. doi: 10.1111/j.1365-2230.2007.02601.x. Epub 2008 Jan 16.

PMID:
18205855
31.

A pilot study showing pulsed-dye laser treatment improves localized areas of chronic atopic dermatitis.

Syed S, Weibel L, Kennedy H, Harper JI.

Clin Exp Dermatol. 2008 May;33(3):243-8. doi: 10.1111/j.1365-2230.2007.02644.x. Epub 2008 Jan 14.

PMID:
18201257
32.

Picture of the month. Diagnosis: periocular hemangioma: an eye-opening experience.

Weibel L, Hoey S, Syed S, Harper JI, Dunaway D, Abou-Rayyah Y.

Arch Pediatr Adolesc Med. 2007 Oct;161(10):1001; discussion 1002. No abstract available.

PMID:
17909145
33.

Laser Doppler flowmetry for assessing localized scleroderma in children.

Weibel L, Howell KJ, Visentin MT, Rudiger A, Denton CP, Zulian F, Woo P, Harper JI.

Arthritis Rheum. 2007 Oct;56(10):3489-95.

34.

Extensive venous/lymphatic malformations causing life-threatening haematological complications.

Mazereeuw-Hautier J, Syed S, Leisner RI, Harper JI.

Br J Dermatol. 2007 Sep;157(3):558-63. Epub 2007 Jun 15.

PMID:
17573883
35.

The skin barrier, atopic dermatitis and allergy: a role for Langerhans cells?

Callard RE, Harper JI.

Trends Immunol. 2007 Jul;28(7):294-8. Epub 2007 Jun 4.

PMID:
17544846
36.

Gomez-Lopez-Hernandez syndrome: another consideration in focal congenital alopecia.

Purvis DJ, Ramirez A, Roberts N, Harper JI.

Br J Dermatol. 2007 Jul;157(1):196-8. Epub 2007 May 8. No abstract available.

PMID:
17489973
37.

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI.

Br J Dermatol. 2007 Jun;156(6):1308-14. Epub 2007 Apr 25. Review.

PMID:
17459035
38.

Morphea (localized scleroderma).

Weibel L, Harper JI, Howell KJ.

J Pediatr. 2007 May;150(5):560. No abstract available.

PMID:
17452238
39.

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A.

Br J Dermatol. 2007 May;156(5):1015-9. Epub 2007 Mar 23. Review.

PMID:
17381453
40.

Filaggrin mutations in children with severe atopic dermatitis.

Morar N, Cookson WO, Harper JI, Moffatt MF.

J Invest Dermatol. 2007 Jul;127(7):1667-72. Epub 2007 Feb 15.

41.

Serine proteases, their inhibitors and allergy.

Smith PK, Harper JI.

Allergy. 2006 Dec;61(12):1441-7. Review.

PMID:
17073875
42.

Absent/reduced glucose transporter-1 protein expression in infantile subglottic haemangiomas.

Purvis DJ, Harper JI, Hartley BE, Sebire NJ.

Br J Dermatol. 2006 Nov;155(5):1041-4.

PMID:
17034538
43.

Evaluation of methotrexate and corticosteroids for the treatment of localized scleroderma (morphoea) in children.

Weibel L, Sampaio MC, Visentin MT, Howell KJ, Woo P, Harper JI.

Br J Dermatol. 2006 Nov;155(5):1013-20.

PMID:
17034534
44.

Killed Mycobacterium vaccae suspension in children with moderate-to-severe atopic dermatitis: a randomized, double-blind, placebo-controlled trial.

Berth-Jones J, Arkwright PD, Marasovic D, Savani N, Aldridge CR, Leech SN, Morgan C, Clark SM, Ogilvie S, Chopra S, Harper JI, Smith CH, Rook GA, Friedmann PS.

Clin Exp Allergy. 2006 Sep;36(9):1115-21.

PMID:
16961710
45.

Bilateral facial capillary malformation associated with eye and brain abnormalities.

Mazereeuw-Hautier J, Syed S, Harper JI.

Arch Dermatol. 2006 Aug;142(8):994-8.

PMID:
16924048
46.

Sternal malformation/vascular dysplasia syndrome with linear hypopigmentation.

Mazereeuw-Hautier J, Syed S, Harper JI.

Br J Dermatol. 2006 Jul;155(1):192-4.

PMID:
16792773
47.

Topical recombinant alpha1-antitrypsin: a potential treatment for Netherton syndrome?

Mazereeuw-Hautier J, Cope J, Ong C, Green A, Hovnanian A, Harper JI.

Arch Dermatol. 2006 Mar;142(3):396-8. No abstract available.

PMID:
16549727
48.

Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis.

Morar N, Bowcock AM, Harper JI, Cookson WO, Moffatt MF.

J Invest Dermatol. 2006 Mar;126(3):603-6.

49.

Ectodermal dysplasia--an unusual dental presentation.

Ryan FS, Mason C, Harper JI.

J Clin Pediatr Dent. 2005 Fall;30(1):55-7.

PMID:
16302601
50.

Primary cutaneous CD30+ T-cell lymphoproliferative disorder following cardiac transplantation in a 15-year-old boy with Netherton's syndrome.

Katugampola RP, Finlay AY, Harper JI, Dojcinov S, Maughan TS.

Br J Dermatol. 2005 Nov;153(5):1041-6. Review.

PMID:
16225622

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