M. Geel

发表

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yang Liu, Sen Yang, Miao Sun, 2009, Nature Genetics.

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Colin N A Palmer, Robert Gruber, C. Palmer, 2007, Nature Genetics.

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

M. Geel, P. Steijlen, J. Frank, 2017, Human mutation.

Neuroendocrine carcinoma in a patient with Birt–Hogg–Dubé syndrome

M. Steensel, M. Geel, M. Vreeburg, 2010, Nature Reviews Urology.

Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

S. Cichon, M. Nöthen, C. Bodemer, 2009, Nature Genetics.

Darier disease: discrete phenotype in a Sinhalese patient with Darier disease

M. Geel, P. Steijlen, A. Arits, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

xiii Clouston Syndrome Can Mimic Pachyonychia Congenita

M. Geel, P. Steijlen, W. McLean, 2003 .

Novel KRT83 and KRT86 mutations associated with monilethrix

M. Geel, M. Vreeburg, M. Steensel, 2015, Experimental dermatology.

Buschke-Ollendorf Syndrome: Report of a Case and a Brief Molecular Overview

M. Geel, M. Steensel, V. Verstraeten, 2008 .

The hedgehog pathway in basal cell carcinoma

R. Letschert, M. Geel, M. Reinders, 2019 .

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene

M. Geel, K. Giehl, J. Frank, 2018, Archives of Dermatological Research.

CYLD mutations differentially affect splicing and mRNA decay in Brooke–Spiegler syndrome

M. Geel, P. Steijlen, J. Frank, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma

E. Bongers, M. Geel, P. Steijlen, 2019, The British journal of dermatology.

Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile

F. Hoebers, S. Denil, M. Geel, 2016, Experimental dermatology.

Postzygotic mosaicism in basal cell naevus syndrome

A. Paulussen, M. Geel, P. Steijlen, 2017, The British journal of dermatology.

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

M. Geel, P. Steijlen, M. Jonkman, 2015, Experimental dermatology.

Molecular genetics of facioscapulohumeral muscular dystrophy

C. Wijmenga, R. Frants, J. Hewitt, 1993, Neuromuscular Disorders.

Novel TGM5 mutations in acral peeling skin syndrome

J. McGrath, E. Sprecher, M. Geel, 2015, Experimental dermatology.

Natural moisturizing factor as a biomarker for filaggrin mutation status in a multi‐ethnic paediatric atopic dermatitis cohort

G. Puppels, L. Pardo, M. Geel, 2021, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Does Recessive EKV Exist

M. Steensel, M. Geel, 2005 .

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

A. Paulussen, M. Geel, K. Mosterd, 2018, Journal of Human Genetics.

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

M. Geel, P. Steijlen, M. V. van Steensel, 2005, Journal of Medical Genetics.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

R. Frants, J. Hewitt, M. Geel, 2004, Journal of Medical Genetics.

Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43

M. Geel, M. Vreeburg, M. van geel, 2007, American journal of medical genetics. Part A.

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

S. Eyre, Z. Miedzybrodzka, J. Lear, 2022, The British journal of dermatology.

A 2‐bp deletion in the GJA1 gene is associated with oculo‐dento‐digital dysplasia with palmoplantar keratoderma

M. Geel, P. Steijlen, I. van der Burgt, 2005, American journal of medical genetics. Part A.

Linkage refinement of Bazex–Dupré–Christol syndrome to an 11·4‐Mb interval on chromosome Xq25‐27.1

M. Geel, P. Steijlen, J. Frank, 2011, The British journal of dermatology.

Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233))

S. Cichon, M. Nöthen, C. Bodemer, 2009 .

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

M. Geel, E. Bijlsma, M. Vreeburg, 2006, Experimental dermatology.

Novel TGM5 mutations in acral peeling skin syndrome

J. McGrath, E. Sprecher, M. Geel, 2015, Experimental dermatology.

HID and KID syndromes are associated with the same connexin 26 mutation

H. Hennies, R. Happle, M. Geel, 2002, The British journal of dermatology.

CYLD mutations differentially affect splicing and mRNA decay in Brooke–Spiegler syndrome

M. Geel, P. Steijlen, S. Joussen, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

A new type of erythrokeratoderma, or KLICK syndrome?

M. Geel, P. Steijlen, R. Pujol, 2005, The British journal of dermatology.

Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease

M. Geel, P. Steijlen, M. Vreeburg, 2019, Orphanet Journal of Rare Diseases.

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry

M. Geel, P. Steijlen, C. V. Heerden, 2012, The British journal of dermatology.