نتائج البحث - "Lizelotte J. M. T. Parren"

1

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

المؤلفون: Kathrin A. Giehl, Jorge Frank, Lizelotte J. M. T. Parren, Michel van Geel

المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Dermatologie (9)

المصدر: Archives of Dermatological Research, 310(7), 599-606. Springer

مصطلحات موضوعية: 0301 basic medicine, Skin Neoplasms, Tumor suppressor gene, DNA Mutational Analysis, CYLD, Cylindroma, CYLINDROMAS, Dermatology, Biology, Trichoepithelioma, VARIANTS, SPIRADENOMA, Polymerase Chain Reaction, 03 medical and health sciences, Brooke-Spiegler syndrome, Neoplastic Syndromes, Hereditary, Familial cylindromatosis, Gene duplication, Multiple familial trichoepithelioma, medicine, Biomarkers, Tumor, Missense mutation, Humans, Genetic Predisposition to Disease, Gene, Genetics, MESSENGER-RNA DECAY, Genetic heterogeneity, General Medicine, BROOKE-SPIEGLER-SYNDROME, medicine.disease, Phenotype, Carcinoma, Adenoid Cystic, CANCER, Deubiquitinating Enzyme CYLD, INSIGHTS, 030104 developmental biology, Mutation, UPDATE, SUPPRESSOR GENE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d0464f528a1b160dac7b80da8b5c3b2
https://doi.org/10.1007/s00403-018-1848-2

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

2

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

المؤلفون: M. van Geel, Jorge Frank, Yvonne Marquardt, P.M. Steijlen, Sylvia Joussen, Lizelotte J. M. T. Parren, Sandra Hanneken, Jens M. Baron, M.A.M. van Steensel

المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (3), MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Dermatologie (9), MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Journal of the European Academy of Dermatology and Venereology, 32(8), E331-E333. Wiley

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecf01c5e2e33fb9cb5232219c02b9a8
https://pubmed.ncbi.nlm.nih.gov/29478249

View record at Wiley

3

Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma

المؤلفون: Jorge Frank, Lizelotte J. M. T. Parren, M.A.M. van Steensel, Véronique Winnepenninckx, K. Munte, M. van Geel, P.M. Steijlen

المساهمون: Genetica & Celbiologie, Klinische Genetica, Promovendi ODB, Dermatologie, RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: DA Pat Pathologie (9), Pathologie, MUMC+: MA Dermatologie (9), MUMC+: MA Dermatologie (3), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA AIOS Dermatologie (9)

المصدر: Clinical and Experimental Dermatology, 41(6), 682-684. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, Genetics, Multiple familial trichoepithelioma, business.industry, Dermatology, Hair follicle, medicine.disease, Deubiquitinating Enzyme CYLD, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, medicine.anatomical_structure, Mutation (genetic algorithm), medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae9d95e4eb91fc70b23ba8e3dee950b
https://cris.maastrichtuniversity.nl/en/publications/1f9b6d0e-b403-4167-835c-7a7dd1b6af3f

View record at Wiley

4

Multiple familial and pigmented basal cell carcinomas in early childhood - Bazex-Dupré-Christol syndrome

المؤلفون: Jorge Frank, Lizelotte J M T Parren, F. Abuzahra

المصدر: Journal of the European Academy of Dermatology and Venereology. 26:117-121

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Follicular atrophoderma, business.industry, Dermatology, Disease, medicine.disease, Hair follicle, Infectious Diseases, medicine.anatomical_structure, Milia, Bazex–Dupré–Christol syndrome, medicine, Hypotrichosis, Histopathology, Early childhood, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f81f22ba70b9b3a41ca91d0c766a32d
https://doi.org/10.1111/j.1468-3083.2011.04048.x

View record at Wiley

5

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

المؤلفون: Jorge Frank, Peter M. Steijlen, T. Wagenvoort, Lizelotte J M T Parren, F. Abuzahra, M. van Geel, F. Koene, M.A.M. van Steensel

المصدر: British Journal of Dermatology. 165:201-203

مصطلحات موضوعية: Genetics, Linkage (software), Genetic linkage, business.industry, Bazex–Dupré–Christol syndrome, Chromosome, Interval (graph theory), Medicine, Dermatology, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7ce075b00198a6ab26a6236d7522fb26
https://doi.org/10.1111/j.1365-2133.2011.10219.x

View record at Wiley

6

A novel therapeutic strategy for turban tumor: scalp excision and combined reconstruction with artificial dermis and split skin graft

المؤلفون: Patrick I. Ferdinandus, Lizelotte J. M. T. Parren, René R. W. J. van der Hulst, Jorge Frank, Stefania Tuinder

المساهمون: RS: NUTRIM - R3 - Chronic inflammatory disease and wasting, Dermatologie, Surgery, Plastische en Reconstructieve Chirurgie, MUMC+: MA Plastische Chirurgie (9)

المصدر: International Journal of Dermatology, 53(2), 246-249. Wiley-Blackwell