-
1
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
Sherman S, Pletcher BA, Driscol DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005;7:584-7.
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscol, D.A.3
-
2
-
-
0035746675
-
American College of Medical Genetics consensus statement on factor v Leiden mutation testing
-
ACMG Factor V Leiden Working Group
-
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA; ACMG Factor V, Leiden Working Group. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med 2001;3:139-48.
-
(2001)
Genet Med
, vol.3
, pp. 139-148
-
-
Grody, W.W.1
Griffin, J.H.2
Taylor, A.K.3
Korf, B.R.4
Heit, J.A.5
-
3
-
-
33746802494
-
Screening for hemochromatosis: Recommendation statement
-
U.S. Preventive Services Task Force
-
U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med 2006; 145:204-8.
-
(2006)
Ann Intern Med
, vol.145
, pp. 204-208
-
-
-
4
-
-
84988480014
-
Hemoglobinopathies in pregnancy ACOG Practice Bulletin No. 78 American College of Obstetricians and Gynecologists
-
Hemoglobinopathies in pregnancy. ACOG Practice Bulletin No. 78. American College of Obstetricians and Gynecologists. Obstet Gynecol 2007;109:229-37.
-
(2007)
Obstet Gynecol
, vol.109
, pp. 229-237
-
-
-
5
-
-
38149050660
-
Carrier screening in individuals of ashkenazi jewish descent
-
Professional Practice Guidelines Committee
-
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008;10:54-6.
-
(2008)
Genet Med
, vol.10
, pp. 54-56
-
-
Gross, S.J.1
Pletcher, B.A.2
Monaghan, K.G.3
-
6
-
-
70349678533
-
Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
-
American College of Obstetricians and Gynecologists ACOG Committee Opinion No. 442
-
Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ACOG Committee Opinion No. 442. American College of Obstetricians and Gynecologists. Obstet Gynecol 2009;114: 950-3.
-
(2009)
Obstet Gynecol
, vol.114
, pp. 950-953
-
-
-
7
-
-
4644361735
-
Cystic fibrosis population carrier screening e 2004 revision of american college of medical genetics mutation panel
-
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-91.
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
-
8
-
-
79953212970
-
Update on carrier screening for cystic fibrosis. Committee Opinion No. 486 American College of Obstetricians and Gynecologists
-
Update on carrier screening for cystic fibrosis. Committee Opinion No. 486. American College of Obstetricians and Gynecologists. Obstet Gynecol 2011;117:1028-31.
-
(2011)
Obstet Gynecol
, vol.117
, pp. 1028-1031
-
-
-
9
-
-
84897639955
-
Molecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the National Society of Genetic Counselors
-
Langfelder-Schwind E, Karczeki B, Strecker MN, Redman J, Sugarman E, Zaleski C, et al. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2014; 23:5-15.
-
(2014)
J Genet Couns
, vol.23
, pp. 5-15
-
-
Langfelder-Schwind, E.1
Karczeki, B.2
Strecker, M.N.3
Redman, J.4
Sugarman, E.5
Zaleski, C.6
-
10
-
-
57449107362
-
Professional Practice and Guidelines Committee: Carrier screening for spinal muscular atrophy
-
Prior TW; Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 2008;10:840-2.
-
(2008)
Genet Med
, vol.10
, pp. 840-842
-
-
Prior, T.W.1
-
11
-
-
66149090002
-
-
Spinal muscular atrophy ACOG Committee Opinion No. 432 American College of Obstetricians and Gynecologists
-
Spinal muscular atrophy. ACOG Committee Opinion No. 432. American College of Obstetricians and Gynecologists. Obstet Gynecol 2009;113:1194-6.
-
(2009)
Obstet Gynecol
, vol.113
, pp. 1194-1196
-
-
-
12
-
-
77958157320
-
-
Carrier screening for fragile X syndrome. Committee Opinion No. 469 American College of Obstetricians and Gynecologists
-
Carrier screening for fragile X syndrome. Committee Opinion No. 469. American College of Obstetricians and Gynecologists. Obstet Gynecol 2010;116:1008-10.
-
(2010)
Obstet Gynecol
, vol.116
, pp. 1008-1010
-
-
-
13
-
-
84872277228
-
Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the National Society of Genetic Counselors
-
Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the National Society of Genetic Counselors. J Genet Couns 2012; 21:752-60.
-
(2012)
J Genet Couns
, vol.21
, pp. 752-760
-
-
Finucane, B.1
Abrams, L.2
Cronister, A.3
Archibald, A.D.4
Bennett, R.L.5
McConkie-Rosell, A.6
-
15
-
-
84923585471
-
-
on behalf of the ACMG Laboratory Quality Assurance Committee. Standards and Guidelines for the Interpretation of Sequence Variants: A joint consensus recommendation from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Available at Retrieved January 20, 2015.
-
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm H, on behalf of the ACMG Laboratory Quality Assurance Committee. Standards and Guidelines for the Interpretation of Sequence Variants: A joint consensus recommendation from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. American College of Medical Genetics and Genomics website. Available at: https://www.acmg.net/docs/Standards-Guidelines-for-the- Interpretation-of-Sequence-Variants.pdf. Retrieved January 20, 2015.
-
American College of Medical Genetics and Genomics Website
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
Voelkerding, K.11
Rehm, H.12
-
16
-
-
34548176849
-
What do patients prefer: Informed consent models genetic carrier testing
-
Ormond KE, Iris M, Banuvar S, Minogue J, Annas GJ, Elias S. What do patients prefer: informed consent models genetic carrier testing. J Genet Couns 2007;16:539-50.
-
(2007)
J Genet Couns
, vol.16
, pp. 539-550
-
-
Ormond, K.E.1
Iris, M.2
Banuvar, S.3
Minogue, J.4
Annas, G.J.5
Elias, S.6
-
17
-
-
84878274723
-
Expanded carrier screening in reproductive healthcare: Perspectives from genetic professionals
-
Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: perspectives from genetic professionals. Hum Reprod 2013;28:1725-30.
-
(2013)
Hum Reprod
, vol.28
, pp. 1725-1730
-
-
Cho, D.1
McGowan, M.L.2
Metcalfe, J.3
Sharp, R.R.4
-
19
-
-
0034190659
-
10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
-
Botto LD, Yang Q. 5, 10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000;151:862-77.
-
(2000)
Am J Epidemiol
, vol.5
, Issue.151
, pp. 862-877
-
-
Botto, L.D.1
Yang, Q.2
-
20
-
-
84873540085
-
Practice Guideline Lack of Evidence for Mthfr Polymorphism Testing A
-
Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med 2013;15:153-6.
-
(2013)
Genet Med
, vol.15
, pp. 153-156
-
-
Hickey, S.E.1
Curry, C.J.2
Toriello, H.V.3
-
21
-
-
67249111755
-
HFE-Associated hereditary hemochromatosis
-
Alexander J, Kowdley KV. HFE-Associated hereditary hemochromatosis. Genet Med 2009;11:307-13.
-
(2009)
Genet Med
, vol.11
, pp. 307-313
-
-
Alexander, J.1
Kowdley, K.V.2
-
22
-
-
0035795607
-
Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
-
Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001;285:2216-22.
-
(2001)
JAMA
, vol.285
, pp. 2216-2222
-
-
Steinberg, K.K.1
Cogswell, M.E.2
Chang, J.C.3
Caudill, S.P.4
McQuillan, G.M.5
Bowman, B.A.6
-
23
-
-
67651197497
-
Clinical penetrance of C282Y homozygous HFE haemochromatosis
-
Rossi E, Jeffrey GP. Clinical penetrance of C282Y homozygous HFE haemochromatosis. Clin Biochem Rev 2004;25:183-90.
-
(2004)
Clin Biochem Rev
, vol.25
, pp. 183-190
-
-
Rossi, E.1
Jeffrey, G.P.2
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