-
1
-
-
33644665924
-
Pediatricians' attitudes toward expanding newborn screening
-
Acharya K, Ackerman PD, Ross LF. 2005. Pediatricians' attitudes toward expanding newborn screening. Pediatrics 116:e475-e482.
-
(2005)
Pediatrics
, vol.116
-
-
Acharya, K.1
Ackerman, P.D.2
Ross, L.F.3
-
2
-
-
84869273125
-
-
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, Retrieved November 11, 2008, from
-
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. 2008. Retrieved November 11, 2008, from http://www.hrsa.gov/heritabledisorderscommittee/default.htm.
-
(2008)
-
-
-
3
-
-
0038624107
-
-
American Academy of Pediatrics (AAP) Committee on Bioethics. 2001. Ethical Issues with Genetic Testing in Pediatrics. Pediatrics 107:1451-1455.
-
American Academy of Pediatrics (AAP) Committee on Bioethics. 2001. Ethical Issues with Genetic Testing in Pediatrics. Pediatrics 107:1451-1455.
-
-
-
-
5
-
-
33745620229
-
ACOG committee opinion no. 338: Screening for Fragile X syndrome
-
American College of Obstetricians and Gynecologists Committee on Genetics
-
American College of Obstetricians and Gynecologists Committee on Genetics. 2006. ACOG committee opinion no. 338: Screening for Fragile X syndrome. Obstet Gynecol 107:1483-1485.
-
(2006)
Obstet Gynecol
, vol.107
, pp. 1483-1485
-
-
-
6
-
-
0028872836
-
Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents
-
American Society of Human Genetics (ASHG)/American College of Medical Genetics ACMG
-
American Society of Human Genetics (ASHG)/American College of Medical Genetics (ACMG). 1995. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57:1233-1241.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1233-1241
-
-
-
8
-
-
0034302984
-
Family experiences and factors associated with the diagnosis of fragile X syndrome
-
Bailey DB, Skinner D, Hatton D, Roberts J. 2000. Family experiences and factors associated with the diagnosis of fragile X syndrome. J Dev Behav Pediatr 21:315-321.
-
(2000)
J Dev Behav Pediatr
, vol.21
, pp. 315-321
-
-
Bailey, D.B.1
Skinner, D.2
Hatton, D.3
Roberts, J.4
-
9
-
-
0037318153
-
Discovering fragile X syndrome: Family experiences and perceptions
-
Bailey DB, Skinner D, Sparkman KL. 2003. Discovering fragile X syndrome: Family experiences and perceptions. Pediatrics 111:407-416.
-
(2003)
Pediatrics
, vol.111
, pp. 407-416
-
-
Bailey, D.B.1
Skinner, D.2
Sparkman, K.L.3
-
10
-
-
49449089705
-
Co-occurring conditions associated with FMR-1 gene variations-Findings from a National Parent Survey
-
Bailey DB Jr, Raspa M, Olmsted M, Holiday DB. 2008. Co-occurring conditions associated with FMR-1 gene variations-Findings from a National Parent Survey. Am J Med Genet Part A 146A:2060-2069.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 2060-2069
-
-
Bailey Jr, D.B.1
Raspa, M.2
Olmsted, M.3
Holiday, D.B.4
-
11
-
-
36749009300
-
Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
-
Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, Grigsby J, Bourgeois JA, Finucane B, Jacquemont S, Brunberg JA, Zhang L, Lin J, Tassone F, Hagerman PJ, Hagerman RJ, Leehey MA. 2007. Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines. Mov Disord 22:2018-2030.
-
(2007)
Mov Disord
, vol.22
, pp. 2018-2030
-
-
Berry-Kravis, E.1
Abrams, L.2
Coffey, S.M.3
Hall, D.A.4
Greco, C.5
Gane, L.W.6
Grigsby, J.7
Bourgeois, J.A.8
Finucane, B.9
Jacquemont, S.10
Brunberg, J.A.11
Zhang, L.12
Lin, J.13
Tassone, F.14
Hagerman, P.J.15
Hagerman, R.J.16
Leehey, M.A.17
-
12
-
-
57349102402
-
Adolescent Carrier Testing in Practice: The Impact of Legal Rulings and Problems with Gillick Competence
-
Boddington P, Gregory M. 2008. Adolescent Carrier Testing in Practice: The Impact of Legal Rulings and Problems with Gillick Competence. J Genet Counsel 17:509-521.
-
(2008)
J Genet Counsel
, vol.17
, pp. 509-521
-
-
Boddington, P.1
Gregory, M.2
-
13
-
-
0038475988
-
Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan
-
Chow JC, Chen DJ, Lin CN, Chiu CY, Huang CB, Chiu PC, Lin CH, Lin SJ, Tzeng CC. 2003. Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan. J Formos Med Assoc 102:
-
(2003)
J Formos Med Assoc
, vol.102
-
-
Chow, J.C.1
Chen, D.J.2
Lin, C.N.3
Chiu, C.Y.4
Huang, C.B.5
Chiu, P.C.6
Lin, C.H.7
Lin, S.J.8
Tzeng, C.C.9
-
14
-
-
63749119248
-
-
12-16
-
12-16.
-
-
-
-
15
-
-
0027945216
-
The Genetic Testing of Children. Working Party of the Clinical Genetics Society (UK)
-
Clarke A. 1994. The Genetic Testing of Children. Working Party of the Clinical Genetics Society (UK). J Med Genet 31:785-797.
-
(1994)
J Med Genet
, vol.31
, pp. 785-797
-
-
Clarke, A.1
-
16
-
-
23744461635
-
The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists
-
Cooksey JA, Forte G, Benkendorf J, Blitzer MG. 2005. The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genet Med 7:439-443.
-
(2005)
Genet Med
, vol.7
, pp. 439-443
-
-
Cooksey, J.A.1
Forte, G.2
Benkendorf, J.3
Blitzer, M.G.4
-
17
-
-
0033069502
-
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
-
Crawford DC, Meadows KL, Newman JL, Taft LF, Pettay DL, Gold LB, Hersey SJ, Hinkle EF, Stanfield ML, Holmgreen P, Yeargin-Allsopp M, Boyle C, Sherman SL. 1999. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet 64:495-507.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 495-507
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Pettay, D.L.5
Gold, L.B.6
Hersey, S.J.7
Hinkle, E.F.8
Stanfield, M.L.9
Holmgreen, P.10
Yeargin-Allsopp, M.11
Boyle, C.12
Sherman, S.L.13
-
18
-
-
18344393077
-
Fragile X syndrome carrier screening in the prenatal genetic counseling setting
-
Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. 2005. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med 7:246-250.
-
(2005)
Genet Med
, vol.7
, pp. 246-250
-
-
Cronister, A.1
DiMaio, M.2
Mahoney, M.J.3
Donnenfeld, A.E.4
Hallam, S.5
-
19
-
-
0029059310
-
GIG response to the UK Clinical genetics Society report: ''The Genetic Testing of Children''
-
Dalby S. 1995. GIG response to the UK Clinical genetics Society report: ''The Genetic Testing of Children''. J Med Genet 32:490-494.
-
(1995)
J Med Genet
, vol.32
, pp. 490-494
-
-
Dalby, S.1
-
20
-
-
0028858268
-
Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
-
Dawson AJ, Chodirker BN, Chudley AE. 1995. Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 56:63-69.
-
(1995)
Biochem Mol Med
, vol.56
, pp. 63-69
-
-
Dawson, A.J.1
Chodirker, B.N.2
Chudley, A.E.3
-
21
-
-
33645419803
-
Attitudes toward prenatal screening and testing for Fragile X
-
Fanos JH, Spangner KA, Musci TJ. 2006. Attitudes toward prenatal screening and testing for Fragile X. Genet Med 8:129-133.
-
(2006)
Genet Med
, vol.8
, pp. 129-133
-
-
Fanos, J.H.1
Spangner, K.A.2
Musci, T.J.3
-
22
-
-
17144364686
-
Rejecting the label: A social constructionist analysis
-
Finlay WM, Lyons E. 2005. Rejecting the label: A social constructionist analysis. Mental Retard 43:120-134.
-
(2005)
Mental Retard
, vol.43
, pp. 120-134
-
-
Finlay, W.M.1
Lyons, E.2
-
26
-
-
2342635196
-
The Fragile-X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. 2004b. The Fragile-X premutation: A maturing perspective. Am J Hum Genet 74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
27
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in Females with the FMR-1 premutation
-
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. 2004. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in Females with the FMR-1 premutation. Am J Hum Genet 74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
Jacquemont, S.4
Greco, C.M.5
Brunberg, J.A.6
Tassone, F.7
Hessl, D.8
Harris, S.W.9
Zhang, L.10
Jardini, T.11
Gane, L.W.12
Ferranti, J.13
Ruiz, L.14
Leehey, M.A.15
Grigsby, J.16
Hagerman, P.J.17
-
28
-
-
33750601475
-
Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children
-
Hiraki S, Ormond KE, Kim K, Ross LF. 2006. Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children. Am J Med Genet Part A 140A:2312-2319
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 2312-2319
-
-
Hiraki, S.1
Ormond, K.E.2
Kim, K.3
Ross, L.F.4
-
29
-
-
23244443377
-
Policy recommendations for carrier testing and predictive testing in childhood: A distinction that makes a real difference
-
Hogben S, Boddington P. 2005. Policy recommendations for carrier testing and predictive testing in childhood: A distinction that makes a real difference. J Genet Counsel 14:271-281.
-
(2005)
J Genet Counsel
, vol.14
, pp. 271-281
-
-
Hogben, S.1
Boddington, P.2
-
30
-
-
33845323746
-
Fragile-X syndrome and Fragile X-associated tremor/ataxia syndrome: Two faces of FMR1
-
Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. 2007. Fragile-X syndrome and Fragile X-associated tremor/ataxia syndrome: Two faces of FMR1. Lancet Neurol 6:45-55.
-
(2007)
Lancet Neurol
, vol.6
, pp. 45-55
-
-
Jacquemont, S.1
Hagerman, R.J.2
Hagerman, P.J.3
Leehey, M.A.4
-
32
-
-
39749124208
-
Living with genetic risk: Effect on adolescent self-concept
-
McConkie-Rosell A, Spiridigliozzi GA, Melvin E, Dawson DV, Lachiewicz AM. 2008. Living with genetic risk: Effect on adolescent self-concept. Am J Med Genet Part C 148C:56-69.
-
(2008)
Am J Med Genet
, vol.148 C
, Issue.PART C
, pp. 56-69
-
-
McConkie-Rosell, A.1
Spiridigliozzi, G.A.2
Melvin, E.3
Dawson, D.V.4
Lachiewicz, A.M.5
-
33
-
-
33745314874
-
Clinical genetic evaluation of the child with mental retardation or developmental delays
-
American Academy of Pediatrics Committee on Genetics
-
Moeschler JB, Shevell M, American Academy of Pediatrics Committee on Genetics. 2006. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117:2304-2316.
-
(2006)
Pediatrics
, vol.117
, pp. 2304-2316
-
-
Moeschler, J.B.1
Shevell, M.2
-
35
-
-
0033906467
-
Screening for Fragile X syndrome in women of reproductive age
-
Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, Barkai G. 2000. Screening for Fragile X syndrome in women of reproductive age. Prenat Diagn 20:611-614.
-
(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
Barkai, G.7
-
36
-
-
0036293867
-
Pilot study for the neonatal screening of fragile X syndrome
-
Rifé M, Mallolas J, Badenas C, Tazón B, Miguélez MR, Pàmpols T, Sànchez A, Milà M. 2002. Pilot study for the neonatal screening of fragile X syndrome. Prenat Diagn 22:459-462.
-
(2002)
Prenat Diagn
, vol.22
, pp. 459-462
-
-
Rifé, M.1
Mallolas, J.2
Badenas, C.3
Tazón, B.4
Miguélez, M.R.5
Pàmpols, T.6
Sànchez, A.7
Milà, M.8
-
37
-
-
1042301290
-
Incidence of fragile X in 5,000 consecutive newborn males
-
Rifé M, Badenas C, Mallolas J, Jiménez L, Cervera R, Maya A, Glover G, Rivera F, Milà M. 2003. Incidence of fragile X in 5,000 consecutive newborn males. Genet Testing 7:339-343.
-
(2003)
Genet Testing
, vol.7
, pp. 339-343
-
-
Rifé, M.1
Badenas, C.2
Mallolas, J.3
Jiménez, L.4
Cervera, R.5
Maya, A.6
Glover, G.7
Rivera, F.8
Milà, M.9
-
38
-
-
0036335566
-
Attitudes of pediatric residents toward ethical issues associated with genetic testing in children
-
Rosen A, Wallenstein S, McGovern MM. 2002. Attitudes of pediatric residents toward ethical issues associated with genetic testing in children. Pediatrics 110:360-363.
-
(2002)
Pediatrics
, vol.110
, pp. 360-363
-
-
Rosen, A.1
Wallenstein, S.2
McGovern, M.M.3
-
39
-
-
33645575043
-
Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy
-
Ross LF. 2006. Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy. Am J Med Genet Part A 140A:914-922.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 914-922
-
-
Ross, L.F.1
-
40
-
-
56049093672
-
Policy considerations in designing a fragile X newborn screening program
-
Ross LF, Acharya K. 2008. Policy considerations in designing a fragile X newborn screening program. Genet Med 10:711-713.
-
(2008)
Genet Med
, vol.10
, pp. 711-713
-
-
Ross, L.F.1
Acharya, K.2
-
41
-
-
2442724489
-
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
-
Ryynanen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K. 1999. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 7:212-216.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 212-216
-
-
Ryynanen, M.1
Heinonen, S.2
Makkonen, M.3
Kajanoja, E.4
Mannermaa, A.5
Pertti, K.6
-
42
-
-
56049114681
-
Fragile X syndrome detection in newborns pilot study
-
Saul RA, Friez MJ, Eaves K, Gail A, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. 2008. Fragile X syndrome detection in newborns pilot study. Genet Med 10:714-719.
-
(2008)
Genet Med
, vol.10
, pp. 714-719
-
-
Saul, R.A.1
Friez, M.J.2
Eaves, K.3
Gail, A.4
Stapleton, G.A.5
Collins, J.S.6
Schwartz, C.E.7
Stevenson, R.E.8
-
43
-
-
0042324045
-
Factors affecting performance of prenatal genetic testing by Israeli Jewish women
-
Sher C, Romano-Zelekha O, Green MS, Shohat T. 2003. Factors affecting performance of prenatal genetic testing by Israeli Jewish women. Am J Med Genet Part A 120A:418-422.
-
(2003)
Am J Med Genet
, vol.120 A
, Issue.PART A
, pp. 418-422
-
-
Sher, C.1
Romano-Zelekha, O.2
Green, M.S.3
Shohat, T.4
-
44
-
-
1842424837
-
Utilization of prenatal genetic testing by Israeli Moslem women: A national survey
-
Sher C, Romano-Zelekha O, Green MS, Shohat T. 2004. Utilization of prenatal genetic testing by Israeli Moslem women: A national survey. Clin Genet 65:278-283.
-
(2004)
Clin Genet
, vol.65
, pp. 278-283
-
-
Sher, C.1
Romano-Zelekha, O.2
Green, M.S.3
Shohat, T.4
-
45
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman SL. 2000. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97C:189-194.
-
(2000)
Am J Med Genet
, vol.97 C
, pp. 189-194
-
-
Sherman, S.L.1
-
46
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
Sherman S, Pletcher BA, Driscoll DA. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587.
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
47
-
-
0142031147
-
Screening for fragile X syndrome: Parent attitudes and perspectives
-
Skinner D, Sparkman KL, Bailey DB Jr. 2003. Screening for fragile X syndrome: Parent attitudes and perspectives. Genet Med 5:378-384.
-
(2003)
Genet Med
, vol.5
, pp. 378-384
-
-
Skinner, D.1
Sparkman, K.L.2
Bailey Jr., D.B.3
-
48
-
-
0032932153
-
A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs
-
Strelnikov V, Nemtsova M, Chesnokova G, Kuleshov N, Zaletayev D. 1999. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Hum Mutat 13:166-169.
-
(1999)
Hum Mutat
, vol.13
, pp. 166-169
-
-
Strelnikov, V.1
Nemtsova, M.2
Chesnokova, G.3
Kuleshov, N.4
Zaletayev, D.5
-
49
-
-
63749128871
-
-
Strom CM, Huang D, Li Y, Hantash FM, Rooke J, Potts SJ, Sun W. 2007.
-
(2007)
-
-
Strom, C.M.1
Huang, D.2
Li, Y.3
Hantash, F.M.4
Rooke, J.5
Potts, S.J.6
Sun, W.7
-
50
-
-
34247199549
-
-
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for fragile X syndrome. Genet Med 9:199-207.
-
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for fragile X syndrome. Genet Med 9:199-207.
-
-
-
-
51
-
-
38749141432
-
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
-
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. 2008. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 10:43-49.
-
(2008)
J Mol Diagn
, vol.10
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
Taylor, A.K.4
Hagerman, P.J.5
-
52
-
-
84869263856
-
Single Gene Disorders and Disabilities (SGDD) CDC Priorities.
-
Retrieved on November 11, 2008 from
-
The Centers for Disease Control and Prevention (CDC). 2006. Single Gene Disorders and Disabilities (SGDD) CDC Priorities. ''What is CDC doing about FXS?'' Retrieved on November 11, 2008 from http://www.cdc.gov/ncbddd/single- gene/fragilex-cdc.htm.
-
(2006)
What is CDC doing about FXS
-
-
-
53
-
-
63749084262
-
-
UC Davis Health System. 2008. ''UC Davis M.I.N.D. Institute researchers to begin widespread newborn screening for fragile X syndrome''. Retrieved November 11, 2008 from http://www.ucdmc.ucdavis.edu/welcome/features/20081022- newborn-screening/index.html.
-
UC Davis Health System. 2008. ''UC Davis M.I.N.D. Institute researchers to begin widespread newborn screening for fragile X syndrome''. Retrieved November 11, 2008 from http://www.ucdmc.ucdavis.edu/welcome/features/20081022- newborn-screening/index.html.
-
-
-
|