Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG, van Hout AF, Cosgun B, Paulussen AD, Leter EM, Steijlen PM, Mosterd K, van Geel M, Gille JJ. Reinders MG, et al. Among authors: paulussen ad. Mol Genet Genomic Med. 2018 May;6(3):409-415. doi: 10.1002/mgg3.380. Epub 2018 Mar 25. Mol Genet Genomic Med. 2018. PMID: 29575684 Free PMC article.
Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma.
Brinkhuizen T, Reinders MG, van Geel M, Hendriksen AJ, Paulussen AD, Winnepenninckx VJ, Keymeulen KB, Soetekouw PM, van Steensel MA, Mosterd K. Brinkhuizen T, et al. Among authors: paulussen ad. J Am Acad Dermatol. 2014 Nov;71(5):1005-8. doi: 10.1016/j.jaad.2014.08.001. Epub 2014 Sep 4. J Am Acad Dermatol. 2014. PMID: 25199678 No abstract available.
Postzygotic mosaicism in basal cell naevus syndrome.
Reinders MGHC, Boersma HJ, Leter EM, Vreeburg M, Paulussen ADC, Arits AHMM, Roemen GMJM, Speel EJM, Steijlen PM, van Geel M, Mosterd K. Reinders MGHC, et al. Br J Dermatol. 2017 Jul;177(1):249-252. doi: 10.1111/bjd.15082. Epub 2017 Jun 6. Br J Dermatol. 2017. PMID: 27658957
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R, Brandão RD, Tserpelis D, van Roozendaal CEP, van Oosterhoud CN, Claes KBM, Paulussen ADC, Sinnema M, Vreeburg M, van der Schoot V, Stumpel CTRM, Broen MPG, Spruijt L, Jongmans MCJ, Lesnik Oberstein SAJ, Plomp AS, Misra-Isrie M, Duijkers FA, Louwers MJ, Szklarczyk R, Derks KWJ, Brunner HG, van den Wijngaard A, van Geel M, Blok MJ. Koster R, et al. Among authors: paulussen adc. NPJ Genom Med. 2021 Nov 15;6(1):95. doi: 10.1038/s41525-021-00258-w. NPJ Genom Med. 2021. PMID: 34782607 Free PMC article.
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
Roemen GMJM, Theunissen TEJ, Hoezen WWJ, Steyls ARM, Paulussen ADC, Mosterd K, Rahikkala E, Zur Hausen A, Speel EJM, van Geel M. Roemen GMJM, et al. Among authors: paulussen adc. Biomedicines. 2024 Jan 31;12(2):330. doi: 10.3390/biomedicines12020330. Biomedicines. 2024. PMID: 38397932 Free PMC article.
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Among authors: paulussen ad. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Otten ABC, Sallevelt SCEH, Carling PJ, Dreesen JCFM, Drüsedau M, Spierts S, Paulussen ADC, de Die-Smulders CEM, Herbert M, Chinnery PF, Samuels DC, Lindsey P, Smeets HJM. Otten ABC, et al. Hum Reprod. 2018 Jul 1;33(7):1331-1341. doi: 10.1093/humrep/dey114. Hum Reprod. 2018. PMID: 29850888 Free PMC article.
78 results