-
1
-
-
77951621022
-
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
-
Hu H, Wrogemann K, Kalscheuer V et al. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2009; 3: 41-9.
-
(2009)
Hugo J
, vol.3
, pp. 41-49
-
-
Hu, H.1
Wrogemann, K.2
Kalscheuer, V.3
-
2
-
-
79957486466
-
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
-
Meder B, Haas J, Keller A et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 2011; 4: 110-22.
-
(2011)
Circ Cardiovasc Genet
, vol.4
, pp. 110-122
-
-
Meder, B.1
Haas, J.2
Keller, A.3
-
3
-
-
77955059918
-
Genetic diagnosis of familial breast cancer using clonal sequencing
-
Morgan JE, Carr IM, Sheridan E et al. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 2010; 31: 484-91.
-
(2010)
Hum Mutat
, vol.31
, pp. 484-491
-
-
Morgan, J.E.1
Carr, I.M.2
Sheridan, E.3
-
4
-
-
84862651279
-
ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing
-
Pritchard CC, Smith C, Salipante SJ et al. ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012; 14: 357-66.
-
(2012)
J Mol Diagn
, vol.14
, pp. 357-366
-
-
Pritchard, C.C.1
Smith, C.2
Salipante, S.J.3
-
5
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010; 107: 12629-33.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
-
6
-
-
84890067177
-
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing
-
Pritchard CC, Smith C, Marushchak T et al. A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. Genet Med 2013; 15: 1004-7.
-
(2013)
Genet Med
, vol.15
, pp. 1004-1007
-
-
Pritchard, C.C.1
Smith, C.2
Marushchak, T.3
-
8
-
-
27744511296
-
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
-
Sweet K, Willis J, Zhou XP et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005; 294: 2465-73.
-
(2005)
JAMA
, vol.294
, pp. 2465-2473
-
-
Sweet, K.1
Willis, J.2
Zhou, X.P.3
-
9
-
-
33745903402
-
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
-
Aretz S, Uhlhaas S, Goergens H et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119: 807-14.
-
(2006)
Int J Cancer
, vol.119
, pp. 807-814
-
-
Aretz, S.1
Uhlhaas, S.2
Goergens, H.3
-
10
-
-
3242689475
-
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
-
Wang L, Baudhuin LM, Boardman LA et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004; 127: 9-16.
-
(2004)
Gastroenterology
, vol.127
, pp. 9-16
-
-
Wang, L.1
Baudhuin, L.M.2
Boardman, L.A.3
-
11
-
-
0036314204
-
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature
-
Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002; 97: 1822-7.
-
(2002)
Am J Gastroenterol
, vol.97
, pp. 1822-1827
-
-
Cao, Y.1
Pieretti, M.2
Marshall, J.3
-
12
-
-
0030770727
-
Genetic testing in hereditary colorectal cancer
-
Giardiello FM. Genetic testing in hereditary colorectal cancer. JAMA 1997; 278: 1278-81.
-
(1997)
JAMA
, vol.278
, pp. 1278-1281
-
-
Giardiello, F.M.1
-
13
-
-
84899974241
-
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience
-
Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM. The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med 2014; 16: 407-12.
-
(2014)
Genet Med
, vol.16
, pp. 407-412
-
-
Mauer, C.B.1
Pirzadeh-Miller, S.M.2
Robinson, L.D.3
Euhus, D.M.4
-
14
-
-
84911933024
-
Germline mutations identified by a 25 gene panel in patients undergoing Lynch syndrome testing
-
Anaheim, CA, USA
-
Yurgelun MB, Allen B, Kaldate R et al. Germline mutations identified by a 25 gene panel in patients undergoing Lynch syndrome testing. Presentation at 17th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer. Anaheim, CA, USA, 2013.
-
(2013)
Presentation at 17th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer
-
-
Yurgelun, M.B.1
Allen, B.2
Kaldate, R.3
-
15
-
-
84863615237
-
Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors
-
Riley BD, Culver JO, Skrzynia C et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2012; 21: 151-61.
-
(2012)
J Genet Couns
, vol.21
, pp. 151-161
-
-
Riley, B.D.1
Culver, J.O.2
Skrzynia, C.3
-
16
-
-
77649208372
-
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility
-
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010; 28: 893-901.
-
(2010)
J Clin Oncol
, vol.28
, pp. 893-901
-
-
Robson, M.E.1
Storm, C.D.2
Weitzel, J.3
Wollins, D.S.4
Offit, K.5
|