-
1
-
-
79954441741
-
Family history as a risk assessment tool. Committee Opinion No. 478. American College of Obstetricians and Gynecologists
-
[PubMed] [Obstetrics & Gynecology]
-
Family history as a risk assessment tool. Committee Opinion No. 478. American College of Obstetricians and Gynecologists. Obstet Gynecol 2011;117:747-50. [PubMed] [Obstetrics & Gynecology]
-
(2011)
Obstet Gynecol
, vol.117
, pp. 747-750
-
-
-
2
-
-
84929930443
-
Hereditary cancer syndromes and risk assessment. Committee Opinion No. 634. American College of Obstetricians and Gynecologists
-
[PubMed] [Obstetrics & Gynecology]
-
Hereditary cancer syndromes and risk assessment. Committee Opinion No. 634. American College of Obstetricians and Gynecologists. Obstet Gynecol 2015;125: 1538-43. [PubMed] [Obstetrics & Gynecology]
-
(2015)
Obstet Gynecol
, vol.125
, pp. 1538-1543
-
-
-
3
-
-
57449107362
-
Carrier screening for spinal muscular atrophy. Professional Practice and Guidelines Committee
-
[PubMed] [Full Text]
-
Prior TW. Carrier screening for spinal muscular atrophy. Professional Practice and Guidelines Committee. Genet Med 2008;10:840-2. [PubMed] [Full Text]
-
(2008)
Genet Med
, vol.10
, pp. 840-842
-
-
Prior, T.W.1
-
4
-
-
77954137213
-
Newborn and carrier screening for spinal muscular atrophy
-
[PubMed]
-
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 2010;152A:1608-16. [PubMed]
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1608-1616
-
-
Prior, T.W.1
Snyder, P.J.2
Rink, B.D.3
Pearl, D.K.4
Pyatt, R.E.5
Mihal, D.C.6
-
5
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
[PubMed] [Full Text]
-
Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20-6. [PubMed] [Full Text]
-
(2002)
Genet Med
, vol.4
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
-
6
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel [published errata appear in Genet Med 2005;7:286; Genet Med 2004;6:548]
-
[PubMed] [Full Text]
-
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 [published errata appear in Genet Med 2005;7:286; Genet Med 2004;6:548]. Genet Med 2004;6:387-91. [PubMed] [Full Text]
-
(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
-
7
-
-
85030706512
-
-
Bethesda (MD): CFF Retrieved February 6, 2017
-
Cystic Fibrosis Foundation. 2015 patient registry annual data report. Bethesda (MD): CFF; 2016. Available at: https://www.cff.org/Our-Research/CF-Patient-Registry/2015-Patient-Registry-Annual-Data-Report.pdf. Retrieved February 6, 2017.
-
(2016)
2015 Patient Registry Annual Data Report
-
-
-
9
-
-
85015938981
-
-
Cystic Fibrosis Centre, Hospital for Sick Children. Cystic fibrosis mutation database Retrieved September 12, 2016
-
Cystic Fibrosis Centre, Hospital for Sick Children. Cystic fibrosis mutation database. Available at: http://www.genet. sickkids.on.ca/CFTR/app. Retrieved September 12, 2016.
-
-
-
-
10
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
[PubMed] [Full Text]
-
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. [PubMed] [Full Text]
-
(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
-
11
-
-
77949482609
-
Population estimates of sickle cell disease in the U.S
-
[PubMed] [Full Text]
-
Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med 2010;38:S512-21. [PubMed] [Full Text]
-
(2010)
Am J Prev Med
, vol.38
, pp. S512-S521
-
-
Hassell, K.L.1
-
12
-
-
17744403039
-
Screening for sickle cell disease and thalassae-mia: A systematic review with supplementary research
-
1-99. [PubMed]
-
Davies SC, Cronin E, Gill M, Greengross P, Hickman M, Normand C. Screening for sickle cell disease and thalassae-mia: a systematic review with supplementary research. Health Technol Assess 2000;4:i-v, 1-99. [PubMed]
-
(2000)
Health Technol Assess
, vol.4
, pp. i-v
-
-
Davies, S.C.1
Cronin, E.2
Gill, M.3
Greengross, P.4
Hickman, M.5
Normand, C.6
-
13
-
-
84903082270
-
Hematologic aspects of pregnancy
-
Burrow GN, Duffy TP, Copel JA, editors Philadelphia (PA): Elsevier Saunders
-
Duffy TP. Hematologic aspects of pregnancy. In: Burrow GN, Duffy TP, Copel JA, editors. Medical complications during pregnancy. Philadelphia (PA): Elsevier Saunders; 2004. p. 69-86.
-
(2004)
Medical Complications during Pregnancy
, pp. 69-86
-
-
Duffy, T.P.1
-
14
-
-
0025296040
-
The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990
-
[PubMed]
-
Kazazian HH Jr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990; 27:209-28. [PubMed]
-
(1990)
Semin Hematol
, vol.27
, pp. 209-228
-
-
Kazazian, H.H.1
-
16
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
-
[PubMed]
-
Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB Jr, Roberts J, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006;140A:1804-13. [PubMed]
-
(2006)
Am J Med Genet A
, vol.140 A
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey, D.B.5
Roberts, J.6
-
17
-
-
57449090215
-
Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines
-
[PubMed] [Full Text]
-
Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med 2008;10:845-7. [PubMed] [Full Text]
-
(2008)
Genet Med
, vol.10
, pp. 845-847
-
-
Kronquist, K.E.1
Sherman, S.L.2
Spector, E.B.3
-
18
-
-
84880526251
-
ACMG Standards and Guidelines for fragile X testing: A revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
-
[PubMed] [Full Text]
-
Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med 2013; 15:575-86. [PubMed] [Full Text]
-
(2013)
Genet Med
, vol.15
, pp. 575-586
-
-
Monaghan, K.G.1
Lyon, E.2
Spector, E.B.3
-
19
-
-
0033906467
-
Screening for fragile X syndrome in women of reproductive age
-
[PubMed]
-
Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 2000;20:611-4. [PubMed]
-
(2000)
Prenat Diagn
, vol.20
, pp. 611-614
-
-
Pesso, R.1
Berkenstadt, M.2
Cuckle, H.3
Gak, E.4
Peleg, L.5
Frydman, M.6
-
20
-
-
42449118477
-
Prevalence and instability of fragile X alleles: Implications for offering fragile X prenatal diagnosis
-
[PubMed] [Obstetrics & Gynecology]
-
Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 2008;111:596-601. [PubMed] [Obstetrics & Gynecology]
-
(2008)
Obstet Gynecol
, vol.111
, pp. 596-601
-
-
Cronister, A.1
Teicher, J.2
Rohlfs, E.M.3
Donnenfeld, A.4
Hallam, S.5
-
21
-
-
0036626521
-
Timing of the absence of FMR1 expression in full mutation chorionic villi
-
[PubMed]
-
Willemsen R, Bontekoe CJ, Severijnen LA, Oostra BA. Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet 2002;110:601-5. [PubMed]
-
(2002)
Hum Genet
, vol.110
, pp. 601-605
-
-
Willemsen, R.1
Bontekoe, C.J.2
Severijnen, L.A.3
Oostra, B.A.4
-
22
-
-
0036644252
-
Familial dysautonomia: Detection of the IKBKAP IVS20(+6T-> C) and R696P mutations and frequencies among Ashkenazi Jews
-
[PubMed]
-
Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: detection of the IKBKAP IVS20(+6T-> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet 2002;110:253-7. [PubMed]
-
(2002)
Am J Med Genet
, vol.110
, pp. 253-257
-
-
Dong, J.1
Edelmann, L.2
Bajwa, A.M.3
Kornreich, R.4
Desnick, R.J.5
-
23
-
-
80052636218
-
-
Eugene (OR): FARF Retrieved September 12, 2016
-
Fanconi Anemia Research Fund. Fanconi anemia: guidelines for diagnosis and management. 4th ed. Eugene (OR): FARF; 2014. Available at: http://fanconi.org/images/uploads/other/FA-Guidelines-4th-Edition-Revised-Names-in-Appendix.pdf Retrieved September 12, 2016.
-
(2014)
Fanconi Anemia: Guidelines for Diagnosis and Management. 4th Ed
-
-
-
24
-
-
84908299843
-
Next-generation DNA sequencing of HEXA: A step in the right direction for carrier screening
-
[PubMed] [Full Text]
-
Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, et al. Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Mol Genet Genomic Med 2013;1:260-8. [PubMed] [Full Text]
-
(2013)
Mol Genet Genomic Med
, vol.1
, pp. 260-268
-
-
Hoffman, J.D.1
Greger, V.2
Strovel, E.T.3
Blitzer, M.G.4
Umbarger, M.A.5
Kennedy, C.6
-
25
-
-
0029909849
-
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain
-
[PubMed] [Full Text]
-
van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. J Med Genet 1996;33:829-32. [PubMed] [Full Text]
-
(1996)
J Med Genet
, vol.33
, pp. 829-832
-
-
Van Bael, M.1
Natowicz, M.R.2
Tomczak, J.3
Grebner, E.E.4
Prence, E.M.5
-
26
-
-
70449348592
-
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing
-
Schneider A, Nakagawa S, Keep R, Dorsainville D, Charrow J, Aleck K, et al. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing. Am J Med Genet A 2009;149A:2444-7
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 2444-2447
-
-
Schneider, A.1
Nakagawa, S.2
Keep, R.3
Dorsainville, D.4
Charrow, J.5
Aleck, K.6
|