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Experimental Dermatology|November 6, 2007
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2Maurice A M van Steensel, Michel van Geel, Lizelotte J M T Parren, et al.
Journal of Clinical Pathology|August 24, 2022
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndromeBabette Ja Verkouteren, Guido Mjm Roemen, Janneke Hm Schuurs-Hoeijmakers, et al.
Journal of Human Genetics|June 23, 2018
PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndromeRobbert-Jan C A M Gielen, Marieke G H C Reinders, Hannele K Koillinen, et al.
American Journal of Human Genetics|December 4, 2001
A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomesMichel van Geel, Evan E Eichler, Amy F Beck, et al.
The American Journal of Pathology|September 13, 2008
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafnessEugene A de Zwart-Storm, Michel van Geel, Pierre A F A van Neer, et al.
Dermatology (Basel, Switzerland)|March 30, 2026
Atopic Dermatitis in Urban Indonesian Children: A Case-Control Study of the Prevalence of Filaggrin Loss-of-Function Variants and Sociodemographic Factors at a Tertiary Referral HospitalRaden Mohamad Rendy Ariezal Effendi, Luba M Pardo, Reiva Farah Dwiyana, et al.
The Journal of Investigative Dermatology|July 15, 2011
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolismAmy S Paller, Maurice A M van Steensel, Marina Rodriguez-Martín, et al.
Molecular Genetics & Genomic Medicine|March 26, 2018
New mutations and an updated database for the patched-1 (PTCH1) geneMarie G Reinders, Antonius F van Hout, Betûl Cosgun, et al.
Genomics|February 7, 2002
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common originMichel van Geel, Morag C Dickson, Amy F Beck, et al.
Dermatology (Basel, Switzerland)|January 18, 2022
The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic DermatitisMinke M F van Mierlo, Luba M Pardo, Karin B Fieten, et al.
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