Raams A - Search Results

1

Pollitt syndrome patients carry mutation in TTDN1.

Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Among authors: raams a. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.

2

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. Hamel BC, et al. Among authors: raams a. J Med Genet. 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. J Med Genet. 1996. PMID: 8818951 Free PMC article.

3

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.

Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NG, Kleijer WJ. Sijbers AM, et al. Among authors: raams a. J Invest Dermatol. 1998 May;110(5):832-6. doi: 10.1046/j.1523-1747.1998.00171.x. J Invest Dermatol. 1998. PMID: 9579555 Free article.

4

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH. Vermeulen W, et al. Among authors: raams a. Nat Genet. 2001 Mar;27(3):299-303. doi: 10.1038/85864. Nat Genet. 2001. PMID: 11242112

5

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Graham JM Jr, et al. Among authors: raams a. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3. Am J Hum Genet. 2001. PMID: 11443545 Free PMC article.

6

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

Jaspers NG, Raams A, Kelner MJ, Ng JM, Yamashita YM, Takeda S, McMorris TC, Hoeijmakers JH. Jaspers NG, et al. Among authors: raams a. DNA Repair (Amst). 2002 Dec 5;1(12):1027-38. doi: 10.1016/s1568-7864(02)00166-0. DNA Repair (Amst). 2002. PMID: 12531012

7

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W. Giglia-Mari G, et al. Among authors: raams a. Nat Genet. 2004 Jul;36(7):714-9. doi: 10.1038/ng1387. Epub 2004 Jun 27. Nat Genet. 2004. PMID: 15220921

8

Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.

Thorel F, Constantinou A, Dunand-Sauthier I, Nouspikel T, Lalle P, Raams A, Jaspers NG, Vermeulen W, Shivji MK, Wood RD, Clarkson SG. Thorel F, et al. Among authors: raams a. Mol Cell Biol. 2004 Dec;24(24):10670-80. doi: 10.1128/MCB.24.24.10670-10680.2004. Mol Cell Biol. 2004. PMID: 15572672 Free PMC article.

9

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Among authors: raams a. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.

10

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: raams a. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.

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