Schiripo TA - Search Results

1

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Among authors: schiripo ta. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285

2

Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

Zhang J, Song YH, Brannigan BW, Wahrer DC, Schiripo TA, Harris PL, Haserlat SM, Ulkus LE, Shannon KM, Garber JE, Freedman ML, Henderson BE, Zou L, Sgroi DC, Haber DA, Bell DW. Zhang J, et al. Among authors: schiripo ta. Mol Cancer Res. 2009 Sep;7(9):1510-6. doi: 10.1158/1541-7786.MCR-09-0033. Epub 2009 Sep 8. Mol Cancer Res. 2009. PMID: 19737971 Free PMC article.

3

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML. Bell DW, et al. Among authors: schiripo ta. Int J Cancer. 2007 Dec 15;121(12):2661-7. doi: 10.1002/ijc.23026. Int J Cancer. 2007. PMID: 17721994 Free PMC article.

4

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, Li FP, Nichols KE, Varley JM, Godwin AK, Shannon KM, Harlow E, Haber DA. Lee SB, et al. Among authors: schiripo ta. Cancer Res. 2001 Nov 15;61(22):8062-7. Cancer Res. 2001. PMID: 11719428

5

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. Acierno JS Jr, et al. Genomics. 2001 Apr 15;73(2):203-10. doi: 10.1006/geno.2001.6526. Genomics. 2001. PMID: 11318610

6

salvador Promotes both cell cycle exit and apoptosis in Drosophila and is mutated in human cancer cell lines.

Tapon N, Harvey KF, Bell DW, Wahrer DC, Schiripo TA, Haber D, Hariharan IK. Tapon N, et al. Among authors: schiripo ta. Cell. 2002 Aug 23;110(4):467-78. doi: 10.1016/s0092-8674(02)00824-3. Cell. 2002. PMID: 12202036 Free article.

7

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Blumenfeld A, et al. Am J Hum Genet. 1999 Apr;64(4):1110-8. doi: 10.1086/302339. Am J Hum Genet. 1999. PMID: 10090896 Free PMC article.

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