Elfferich P - Search Results

1

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

Hofstra RM, Elfferich P, Osinga J, Verlind E, Fransen E, López Pisón J, de Die-Smulders CE, Stolte-Dijkstra I, Buys CH. Hofstra RM, et al. Among authors: elfferich p. J Med Genet. 2002 Mar;39(3):E11. doi: 10.1136/jmg.39.3.e11. J Med Genet. 2002. PMID: 11897831 Free PMC article. No abstract available.

2

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH. Hofstra RM, et al. Among authors: elfferich p. Hum Mutat. 2000;15(5):418-29. doi: 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10790203

3

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.

Wu Y, Stulp RP, Elfferich P, Osinga J, Buys CH, Hofstra RM. Wu Y, et al. Among authors: elfferich p. Nucleic Acids Res. 1999 Aug 1;27(15):e9. doi: 10.1093/nar/27.15.e9. Nucleic Acids Res. 1999. PMID: 10454628 Free PMC article.

4

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.

Hayes VM, Wu Y, Osinga J, Mulder IM, van der Vlies P, Elfferich P, Buys CH, Hofstra RM. Hayes VM, et al. Among authors: elfferich p. Nucleic Acids Res. 1999 Oct 15;27(20):e29. doi: 10.1093/nar/27.20.e29. Nucleic Acids Res. 1999. PMID: 10497279 Free PMC article.

5

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Among authors: elfferich p. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

6

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: elfferich p. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353

7

Rapid c-myc mRNA degradation does not require (A + U)-rich sequences or complete translation of the mRNA.

Laird-Offringa IA, Elfferich P, van der Eb AJ. Laird-Offringa IA, et al. Among authors: elfferich p. Nucleic Acids Res. 1991 May 11;19(9):2387-94. doi: 10.1093/nar/19.9.2387. Nucleic Acids Res. 1991. PMID: 1645870 Free PMC article.

8

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Dufner Almeida LG, Nanhoe S, Zonta A, Hosseinzadeh M, Kom-Gortat R, Elfferich P, Schaaf G, Kenter A, Kümmel D, Migone N, Povey S, Ekong R, Nellist M. Dufner Almeida LG, et al. Among authors: elfferich p. Hum Mutat. 2020 Apr;41(4):759-773. doi: 10.1002/humu.23963. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31799751 Free PMC article.

9

Analysis of polyadenylation site usage of the c-myc oncogene.

Laird-Offringa IA, Elfferich P, Knaken HJ, de Ruiter J, van der Eb AJ. Laird-Offringa IA, et al. Among authors: elfferich p. Nucleic Acids Res. 1989 Aug 25;17(16):6499-514. doi: 10.1093/nar/17.16.6499. Nucleic Acids Res. 1989. PMID: 2674898 Free PMC article.

10

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Sancak O, et al. Among authors: elfferich p. Eur J Hum Genet. 2005 Jun;13(6):731-41. doi: 10.1038/sj.ejhg.5201402. Eur J Hum Genet. 2005. PMID: 15798777

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