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American Journal of Human Genetics|July 27, 1999
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencingM van Steensel, F J Smith, P M Steijlen, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
The genetic basis of pachyonychia congenitaFrances J D Smith, Haihui Liao, Andrew J Cassidy, et al.
Human Molecular Genetics|August 11, 1999
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation classV L Ruiz-Perez, S A Carter, E Healy, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
Clinical and pathological features of pachyonychia congenitaSancy A Leachman, Roger L Kaspar, Philip Fleckman, et al.
American Journal of Human Genetics|June 13, 1998
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical regionS Monk, A Sakuntabhai, S A Carter, et al.
The Lancet. Child & Adolescent Health|May 16, 2025
180-day efficacy of nirsevimab against hospitalisation for respiratory syncytial virus lower respiratory tract infections in infants (HARMONIE): a randomised, controlled, phase 3b trialAlasdair P S Munro, Simon B Drysdale, Katrina Cathie, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
The Journal of Infection|June 19, 2022
Safety and immunogenicity of the inactivated whole-virus adjuvanted COVID-19 vaccine VLA2001: A randomized, dose escalation, double-blind phase 1/2 clinical trial in healthy adultsRajeka Lazarus, Christian Taucher, Claire Brown, et al.
American Journal of Human Genetics|April 3, 2001
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43N A Alam, S Bevan, M Churchman, et al.
Human Molecular Genetics|April 4, 2002
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)Takahiro Hamada, W H Irwin McLean, Michele Ramsay, et al.
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