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25 results for author:"Robbins C.M." in Literature citations

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Germline mutations in HOXB13 and prostate-cancer risk.

Ewing C.M., Ray A.M., Lange E.M., Zuhlke K.A., Robbins C.M., Tembe W.D., Wiley K.E., Isaacs S.D., Johng D., Wang Y. et al.

N. Engl. J. Med. 366:141-149(2012) · Mapped (2)

EphB2 SNPs and sporadic prostate cancer risk in African American men.

Robbins C.M., Hooker S., Kittles R.A., Carpten J.D.

PLoS ONE 6:e19494-e19494(2011) · Mapped (6)

Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.

Robbins C.M., Hernandez W., Ahaghotu C., Bennett J., Hoke G., Mason T., Pettaway C.A., Vijayakumar S., Weinrich S., Furbert-Harris P. et al.

Prostate 68:1790-1797(2008) · Mapped (11)

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.

Carpten J.D., Faber A.L., Horn C., Donoho G.P., Briggs S.L., Robbins C.M., Hostetter G., Boguslawski S., Moses T.Y., Savage S. et al.

Nature 448:439-444(2007) · UniProtKB (1) · Mapped (5)

A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.

Kittles R.A., Baffoe-Bonnie A.B., Moses T.Y., Robbins C.M., Ahaghotu C., Huusko P., Pettaway C., Vijayakumar S., Bennett J., Hoke G. et al.

J. Med. Genet. 43:507-511(2006) · UniProtKB (1) · Mapped (5)

Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis.

Sood R., Bader P.I., Speer M.C., Edwards Y.H., Eddings E.M., Blair R.T., Hu P., Faruque M.U., Robbins C.M., Zhang H. et al.

Cytogenet. Genome Res. 106:61-67(2004) · Mapped (9)

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

Simonds W.F., Robbins C.M., Agarwal S.K., Hendy G.N., Carpten J.D., Marx S.J.

J. Clin. Endocrinol. Metab. 89:96-102(2004) · Mapped (2)

Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer.

Nupponen N.N., Wallen M.J., Ponciano D., Robbins C.M., Tammela T.L., Vessella R.L., Carpten J.D., Visakorpi T.

Genes Chromosomes Cancer 39:119-125(2004) · Mapped (7)

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Shattuck T.M., Vaelimaeki S., Obara T., Gaz R.D., Clark O.H., Shoback D., Wierman M.E., Tojo K., Robbins C.M., Carpten J.D. et al.

N. Engl. J. Med. 349:1722-1729(2003) · UniProtKB (1) · Mapped (2)

Cloning and characterization of a novel gene, SHPRH, encoding a conserved putative protein with SNF2/helicase and PHD-finger domains from the 6q24 region.

Sood R., Makalowska I., Galdzicki M., Hu P., Eddings E., Robbins C.M., Moses T., Namkoong J., Chen S., Trent J.M.

Genomics 82:153-161(2003) · UniProtKB (2) · Mapped (4)

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P. et al.

Nature 423:293-298(2003) · UniProtKB (1) · Mapped (10)

High frequency of BRAF mutations in nevi.

Pollock P.M., Harper U.L., Hansen K.S., Yudt L.M., Stark M., Robbins C.M., Moses T.Y., Hostetter G., Wagner U., Kakareka J. et al.

Nat. Genet. 33:19-20(2003) · Mapped (3)

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Carpten J.D., Robbins C.M., Villablanca A., Forsberg L., Presciuttini S., Bailey-Wilson J., Simonds W.F., Gillanders E.M., Kennedy A.M., Chen J.D. et al.

Nat. Genet. 32:676-680(2002) · UniProtKB (1) · Mapped (3)

Identification of six novel genes by experimental validation of GeneMachine predicted genes.

Makalowska I., Sood R., Faruque M.U., Hu P., Robbins C.M., Eddings E.M., Mestre J.D., Baxevanis A.D., Carpten J.D.

Gene 284:203-213(2002) · UniProtKB (6)

Isolation and characterization of the human homeobox gene HOX D1.

Appukuttan B., Sood R., Ott S., Makalowska I., Patel R.J., Wang X., Robbins C.M., Brownstein M.J., Stout J.T.

Mol. Biol. Rep. 27:195-201(2000) · UniProtKB (1) · Mapped (2)

Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.

Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M., Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H. et al.

Genomics 73:211-222(2001) · UniProtKB (13) · Mapped (2)

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.

Xu J., Zheng S.L., Carpten J.D., Nupponen N.N., Robbins C.M., Mestre J., Moses T.Y., Faith D.A., Kelly B.D., Isaacs S.D. et al.

Am. J. Hum. Genet. 68:901-911(2001) · Mapped (7)

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Slaugenhaupt S.A., Blumenfeld A., Gill S.P., Leyne M., Mull J., Cuajungco M.P., Liebert C.B., Chadwick B.P., Idelson M., Reznik L. et al.

Am. J. Hum. Genet. 68:598-605(2001) · UniProtKB (1) · Mapped (3)

The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization.

Sood R., Makalowska I., Carpten J.D., Robbins C.M., Stephan D.A., Connors T.D., Morgenbesser S.D., Su K., Pinkett H.W., Graham C.L. et al.

Biochim. Biophys. Acta 1491:285-288(2000) · UniProtKB (1)

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.

Chadwick B.P., Leyne M., Gill S., Liebert C.B., Mull J., Mezey E., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C. et al.

Mamm. Genome 11:81-83(2000) · UniProtKB (2)

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene.

Chadwick B.P., Gill S., Leyne M., Mull J., Liebert C.B., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al.

Gene 240:67-73(1999) · UniProtKB (1)

Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.

Chadwick B.P., Mull J., Helbling L.A., Gill S., Leyne M., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al.

Genomics 58:302-309(1999) · UniProtKB (4) · Mapped (5)

Progressive juvenile-onset punctate cataracts caused by mutation of the gamma-D-crystallin gene.

Stephan D.A., Gillanders E., Vanderveen D., Freas-Lutz D., Wistow G., Baxevanis A.D., Robbins C.M., VanAuken A., Quesenberry M.I., Bailey-Wilson J. et al.

Proc. Natl. Acad. Sci. U.S.A. 96:1008-1012(1999) · UniProtKB (1)

Evolutionary sequence comparisons using high-density oligonucleotide arrays.

Hacia J.G., Makalowski W., Edgemon K., Erdos M.R., Robbins C.M., Fodor S.P.A., Brody L.C., Collins F.S.

Nat. Genet. 18:155-158(1998) · UniProtKB (7)

Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.

Hirotsune S., Pack S.D., Chong S.S., Robbins C.M., Pavan W.J., Ledbetter D.H., Wynshaw-Boris A.

Genome Res. 7:625-634(1997) · Mapped (18)

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