Marinoni JC - Search Results

1

Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1.

Röhme D, Sidén T, van der Maarel SM, Cremers FP, Tantravahi U, Marinoni JC, Ropers HH, Schwartz CE. Röhme D, et al. Among authors: marinoni jc. Somat Cell Mol Genet. 1994 Jan;20(1):1-10. doi: 10.1007/BF02257481. Somat Cell Mol Genet. 1994. PMID: 8197472

2

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Marinoni JC, et al. Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x. Clin Genet. 1995. PMID: 7606850 Review.

3

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.

Marinoni JC, Boyd E, Sherman S, Schwartz C. Marinoni JC, et al. Hum Mol Genet. 1994 Aug;3(8):1355-7. doi: 10.1093/hmg/3.8.1355. Hum Mol Genet. 1994. PMID: 7987314

4

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C. Varret M, et al. Among authors: marinoni jc. Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370. Am J Hum Genet. 1999. PMID: 10205269 Free PMC article.

5

Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH.

Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM. Marinoni JC, et al. EMBO J. 1997 Mar 3;16(5):1093-102. doi: 10.1093/emboj/16.5.1093. EMBO J. 1997. PMID: 9118947 Free PMC article.

6

Purification of the transcription/repair factor TFIIH and evaluation of its associated activities in vitro.

Marinoni JC, Rossignol M, Egly JM. Marinoni JC, et al. Methods. 1997 Jul;12(3):235-53. doi: 10.1006/meth.1997.0476. Methods. 1997. PMID: 9237168 Review.

7

Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.

Coin F, Marinoni JC, Egly JM. Coin F, et al. Among authors: marinoni jc. Pathol Biol (Paris). 1998 Nov;46(9):679-80. Pathol Biol (Paris). 1998. PMID: 9885814 English, French. No abstract available.

8

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.

Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM. Coin F, et al. Among authors: marinoni jc. Nat Genet. 1998 Oct;20(2):184-8. doi: 10.1038/2491. Nat Genet. 1998. PMID: 9771713

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