Works by Irvine, Alan D
Results: 128
Biallelic variants in RNU12 cause CDAGS syndrome.
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- Human Mutation, 2021, v. 42, n. 8, p. 1042, doi. 10.1002/humu.24239
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- Article
Insight into IKBKG/ NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease.
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- Human Mutation, 2014, v. 35, n. 2, p. 165, doi. 10.1002/humu.22483
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- Article
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation.
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- Human Mutation, 2013, v. 34, n. 12, p. 1632, doi. 10.1002/humu.22431
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- Article
A real‐world retrospective observational study exploring resource use for secondary care management of moderate‐to‐severe atopic dermatitis in children and adolescents at a single site in Ireland.
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- JEADV Clinical Practice, 2023, v. 2, n. 3, p. 465, doi. 10.1002/jvc2.142
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- Article
More Time Spent with Clear Skin and No Itch with Upadacitinib versus Dupilumab for Atopic Dermatitis.
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- Dermatology & Therapy, 2024, v. 14, n. 9, p. 2621, doi. 10.1007/s13555-024-01242-9
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- Article
Safety and Efficacy of Lebrikizumab in Adolescent Patients with Moderate-to-Severe Atopic Dermatitis: A 52-Week, Open-Label, Phase 3 Study.
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- Dermatology & Therapy, 2023, v. 13, n. 7, p. 1517, doi. 10.1007/s13555-023-00942-y
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- Article
Clinical examination for hyperlinear palms to determine filaggrin genotype: A diagnostic test accuracy study.
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- Clinical & Experimental Allergy, 2021, v. 51, n. 11, p. 1421, doi. 10.1111/cea.14025
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- Article
A patient's experience of progressive hemifacial atrophy.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1729, doi. 10.1093/ced/llae255
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- Article
Living with a rare disease: a patient perspective of life with trimethylaminuria.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 5, p. 530, doi. 10.1093/ced/llae003
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- Article
'Guidelines are not the issue, access to support and advice is the problem': a cross-sectional survey of general practitioners referring to paediatric dermatology.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 1, p. 71, doi. 10.1093/ced/llad284
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- Article
Getting it right the first time: an Irish paediatric dermatology perspective from a national care centre.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 1, p. 61, doi. 10.1093/ced/llad269
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- Article
Early improvements in signs and symptoms predict clinical response to baricitinib in patients with moderate-to-severe atopic dermatitis.
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- Clinical & Experimental Dermatology, 2023, v. 48, n. 8, p. 881, doi. 10.1093/ced/llad129
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- Article
Hair on a gene string: recent advances in understanding the molecular genetics of hair loss.
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- Clinical & Experimental Dermatology, 2001, v. 26, n. 1, p. 59, doi. 10.1046/j.1365-2230.2001.00764.x
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- Article
Antenatal Vitamin D Status Is Not Associated with Standard Neurodevelopmental Assessments at Age 5 Years in a Well-Characterized Prospective Maternal-Infant Cohort.
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- Journal of Clinical Chiropractic Pediatrics, 2021, v. 20, n. 1, p. 1580, doi. 10.1093/jn/nxy150
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- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
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- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234
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- Article
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
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- Genes, 2021, v. 12, n. 1, p. 80, doi. 10.3390/genes12010080
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- Article
Dupilumab Provides Significant Clinical Benefit in a Phase 3 Trial in Adolescents with Uncontrolled Atopic Dermatitis Irrespective of Prior Systemic Immunosuppressant Use.
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- Acta Dermato-Venereologica, 2021, v. 101, n. 7, p. 1, doi. 10.2340/00015555-3848
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- Article
Real‐world clinical, psychosocial and economic burden of atopic dermatitis: Results from a multicountry study.
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- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 2, p. 340, doi. 10.1111/jdv.19500
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- Article
Treat‐to‐target in dermatology: A scoping review and International Eczema Council survey on the approach in atopic dermatitis.
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- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 1, p. 42, doi. 10.1111/jdv.19506
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- Article
Recent advances in the pathobiology and management of Kasabach-Merritt phenomenon.
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- British Journal of Haematology, 2015, v. 171, n. 1, p. 38, doi. 10.1111/bjh.13557
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- Article
Kasabach-Merritt syndrome, kaposiform haemangioendothelioma and platelet blockade.
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- British Journal of Haematology, 2015, v. 171, n. 1, p. 11, doi. 10.1111/bjh.13558
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- Article
Skin involvement in Down syndrome transient abnormal myelopoiesis.
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- British Journal of Haematology, 2012, v. 157, n. 3, p. 280, doi. 10.1111/j.1365-2141.2012.09079.x
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- Article
Cord blood leptin and gains in body weight and fat mass during infancy.
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- European Journal of Endocrinology, 2016, v. 175, n. 5, p. 403, doi. 10.1530/EJE-16-0431
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- Article
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.
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- Pediatric Radiology, 2011, v. 41, n. 9, p. 1129, doi. 10.1007/s00247-011-2142-z
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- Article
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population.
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- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 11, p. 1343, doi. 10.1515/jpem.2006.19.11.1343
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- Article
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 12, p. 2964, doi. 10.1038/jid.2015.288
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- Article
Crossing Barriers; Restoring Barriers? Filaggrin Protein Replacement Takes a Bow.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 313, doi. 10.1038/jid.2013.506
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- Article
Childhood Eczema and the Importance of the Physical Environment.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1706, doi. 10.1038/jid.2013.128
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- Article
Heritable Filaggrin Disorders: The Paradigm of Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2012, v. 132, p. E20, doi. 10.1038/skinbio.2012.6
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- Article
Double Trouble: Homozygous Dominant Mutations and Hair Loss in Pachyonychia Congenita.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1757, doi. 10.1038/jid.2012.121
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- Article
Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1507, doi. 10.1038/jid.2011.479
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- Article
Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 98, doi. 10.1038/jid.2011.342
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- Article
Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2010, v. 130, n. 8, p. 2057, doi. 10.1038/jid.2010.88
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- Article
Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum.
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- 2008
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- Letter
Filaggrin Null Alleles Are Not Associated with Psoriasis.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 8, p. 1878, doi. 10.1038/sj.jid.5700817
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- Article
Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 6, p. 1282, doi. 10.1038/sj.jid.5700876
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- Article
Fleshing Out Filaggrin Phenotypes.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 504, doi. 10.1038/sj.jid.5700695
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- Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
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- Article
Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 6, p. 1200, doi. 10.1038/sj.jid.5700365
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- Article
Iron status, body size, and growth in the first 2 years of life.
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- Maternal & Child Nutrition, 2018, v. 14, n. 1, p. n/a, doi. 10.1111/mcn.12458
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- Article
Iron intakes and status of 2-year-old children in the Cork BASELINE Birth Cohort Study.
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- Maternal & Child Nutrition, 2017, v. 13, n. 3, p. n/a, doi. 10.1111/mcn.12320
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- Article
A pilot study of burnout and long covid in senior specialist doctors.
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- Irish Journal of Medical Science, 2022, v. 191, n. 1, p. 133, doi. 10.1007/s11845-021-02594-3
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- Article
Upadacitinib in Adolescents With Moderate to Severe Atopic Dermatitis: Analysis of 3 Phase 3 Randomized Clinical Trials Through 76 Weeks.
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- JAMA Dermatology, 2024, v. 160, n. 12, p. 1304, doi. 10.1001/jamadermatol.2024.3696
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- Article
Efficacy and Safety of Dupilumab in Patients With Erythrodermic Atopic Dermatitis: A Post Hoc Analysis of 6 Randomized Clinical Trials.
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- JAMA Dermatology, 2023, v. 159, n. 3, p. 255, doi. 10.1001/jamadermatol.2022.6192
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- Article
Low vitamin D deficiency in Irish toddlers despite northerly latitude and a high prevalence of inadequate intakes.
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- European Journal of Nutrition, 2018, v. 57, n. 2, p. 783, doi. 10.1007/s00394-016-1368-9
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- Article
Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 4, p. 966, doi. 10.1046/j.1523-1747.2002.00186.x
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- Article
Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 352, doi. 10.1046/j.1523-1747.2002.01603.x
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- Article
Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 4, p. 607, doi. 10.1046/j.1523-1747.1999.00722.x
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- Article
Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland.
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- Journal of Investigative Dermatology, 1998, v. 111, n. 6, p. 1207, doi. 10.1046/j.1523-1747.1998.00445.x
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- Article