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1994 | 1 |
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Page 1
High rate of mosaicism in tuberous sclerosis complex.
Am J Hum Genet. 1999 Jun;64(6):1632-7. doi: 10.1086/302412.
Am J Hum Genet. 1999.
PMID: 10330349
Free PMC article.
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A.
van Slegtenhorst M, et al. Among authors: tempelaars a.
J Med Genet. 1999 Apr;36(4):285-9.
J Med Genet. 1999.
PMID: 10227394
Free PMC article.
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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM.
Wang Q, et al. Among authors: tempelaars am.
Hum Mutat. 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3.
Hum Mutat. 1998.
PMID: 10215407
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Uptake of triiodothyroacetic acid and its effect on thyrotropin secretion in cultured anterior pituitary cells.
Everts ME, Visser TJ, Moerings EP, Docter R, van Toor H, Tempelaars AM, de Jong M, Krenning EP, Hennemann G.
Everts ME, et al. Among authors: tempelaars am.
Endocrinology. 1994 Dec;135(6):2700-7. doi: 10.1210/endo.135.6.7988460.
Endocrinology. 1994.
PMID: 7988460
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Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.
Verhoef S, Schrander-Stumpel CT, Vuzevski VD, Tempelaars A, Jansen LA, Malfeyt GA, Ceelen TL, Lindhout D, Halley DJ, van den Ouweland AM.
Verhoef S, et al. Among authors: tempelaars a.
J Med Genet. 1998 Oct;35(10):841-5. doi: 10.1136/jmg.35.10.841.
J Med Genet. 1998.
PMID: 9783709
Free PMC article.
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Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
Verhoef S, Vrtel R, Bakker L, Stolte-Dijkstra I, Nellist M, Begeer JH, Zaremba J, Jozwiak S, Tempelaars AM, Lindhout D, Halley DJ, van den Ouweland AM.
Verhoef S, et al. Among authors: tempelaars am.
Hum Mutat. 1998;Suppl 1:S85-7. doi: 10.1002/humu.1380110129.
Hum Mutat. 1998.
PMID: 9452050
No abstract available.
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Uptake of 3,3',5,5'-tetraiodothyroacetic acid and 3,3',5'-triiodothyronine in cultured rat anterior pituitary cells and their effects on thyrotropin secretion.
Everts ME, Visser TJ, Moerings EP, Tempelaars AM, van Toor H, Docter R, de Jong M, Krenning EP, Hennemann G.
Everts ME, et al. Among authors: tempelaars am.
Endocrinology. 1995 Oct;136(10):4454-61. doi: 10.1210/endo.136.10.7664665.
Endocrinology. 1995.
PMID: 7664665
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