Authors:
McGrath, JA
Duijf, PHG
Doetsch, V
Irvine, AD
de Waal, R
Vanmolkot, KRJ
Wessagowit, V
Kelly, A
Atherton, DJ
Griffiths, WAD
Orlow, SJ
van Haeringen, A
Ausems, MGEM
Yang, A
McKeon, F
Bamshad, MA
Brunner, HG
Hamel, BCJ
van Bokhoven, H
Citation: Ja. Mcgrath et al., Hay-Wells syndrome is caused by heterozygous missense mutations in the SAMdomain of p63, HUM MOL GEN, 10(3), 2001, pp. 221-229
Citation: Ad. Irvine et Am. Christiano, Hair on a gene string: recent advances in understanding the molecular genetics of hair loss, CLIN EXP D, 26(1), 2001, pp. 59-71
Authors:
Irvine, AD
Rugg, EL
Lane, EB
Hoare, S
Peret, C
Hughes, AE
Heagerty, AH
Citation: Ad. Irvine et al., Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation, BR J DERM, 144(1), 2001, pp. 40-45
Authors:
Chavanas, S
Bodemer, C
Rochat, A
Hamel-Teillac, D
Ali, M
Irvine, AD
Bonafe, JL
Wilkinson, J
Taieb, A
Barrandon, Y
Harper, JI
de Prost, Y
Hovnanian, A
Citation: S. Chavanas et al., Mutations in SPINK5, encoding a serine protease inhibitor, cause Nethertonsyndrome, NAT GENET, 25(2), 2000, pp. 141-142
Authors:
Irvine, AD
Smith, FJD
Shum, KW
Williams, HC
McLean, WHI
Citation: Ad. Irvine et al., A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens, CLIN EXP D, 25(8), 2000, pp. 648-651
Authors:
Smith, FJD
McKenna, KE
Irvine, AD
Bingham, EA
Coleman, CM
Uitto, J
McLean, WHI
Citation: Fjd. Smith et al., A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1, EXP DERMATO, 8(2), 1999, pp. 109-114
Authors:
Korge, BP
Hamm, H
Jury, CS
Traupe, H
Irvine, AD
Healy, E
Birch-Machin, M
Rees, JL
Messenger, AG
Holmes, SC
Parry, DAD
Munro, CS
Citation: Bp. Korge et al., Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype, J INVES DER, 113(4), 1999, pp. 607-612
Citation: Ad. Irvine et Whi. Mclean, Human keratin diseases: the increasing spectrum of disease and subtlety ofthe phenotype-genotype correlation, BR J DERM, 140(5), 1999, pp. 815-828
Authors:
Covello, SP
Irvine, AD
McKenna, KE
Munro, CS
Nevin, NC
Smith, FJD
Uitto, J
McLean, WHI
Citation: Sp. Covello et al., Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland, J INVES DER, 111(6), 1998, pp. 1207-1209
Authors:
Casey, M
Mah, C
Merliss, AD
Kirschner, LS
Taymans, SE
Denio, AE
Korf, B
Irvine, AD
Hughes, A
Carney, JA
Stratakis, CA
Basson, CT
Citation: M. Casey et al., Identification of a novel genetic locus for familial cardiac myxomas and Carney complex, CIRCULATION, 98(23), 1998, pp. 2560-2566