-
1
-
-
63749123267
-
Fragile X screening: Attitudes of genetic health professionals
-
Acharya K, Ross L. 2009. Fragile X screening: Attitudes of genetic health professionals. Am J Med Genet Part A 149A:626-632.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 626-632
-
-
Acharya, K.1
Ross, L.2
-
2
-
-
84872894482
-
-
Australian Bureau of Statistics. Australian Aboriginal and Torres Strait Islander Births 3301.0.
-
Australian Bureau of Statistics. 2010. Australian Aboriginal and Torres Strait Islander Births 3301.0.
-
(2010)
-
-
-
4
-
-
0037318153
-
Discovering fragile X syndrome: Family experiences and perceptions
-
Bailey DB Jr, 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 Jr., D.B.1
Skinner, D.2
Sparkman, K.L.3
-
5
-
-
40949109764
-
Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues
-
Bailey DB Jr, Skinner D, Davis AM, Whitmarsh I, Powell C. 2008. Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics 121:e693-e704.
-
(2008)
Pediatrics
, vol.121
-
-
Bailey Jr., D.B.1
Skinner, D.2
Davis, A.M.3
Whitmarsh, I.4
Powell, C.5
-
6
-
-
67749101276
-
No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey
-
Bailey DB Jr, Raspa M, Bishop E, Holiday D. 2009. No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey. Pediatrics 124:527-533.
-
(2009)
Pediatrics
, vol.124
, pp. 527-533
-
-
Bailey Jr., D.B.1
Raspa, M.2
Bishop, E.3
Holiday, D.4
-
7
-
-
84875932339
-
Design and evaluation of a decision aide for inviting parents to participate in a fragile X newborn screening pilot study
-
Epub ahead of print].
-
Bailey DB, Lewis A, Harris S, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell B. 2012. Design and evaluation of a decision aide for inviting parents to participate in a fragile X newborn screening pilot study. J Genet Counsel [Epub ahead of print].
-
(2012)
J Genet Counsel
-
-
Bailey, D.B.1
Lewis, A.2
Harris, S.3
Grant, T.4
Bann, C.5
Bishop, E.6
Roche, M.7
Guarda, S.8
Barnum, L.9
Powell, C.10
Therrell, B.11
-
8
-
-
36148980815
-
Preconceptional and prenatal screening for fragile X syndrome: Experience with 40,000 tests
-
Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. 2007. Preconceptional and prenatal screening for fragile X syndrome: Experience with 40, 000 tests. Prenat Diagn 27:991-994.
-
(2007)
Prenat Diagn
, vol.27
, pp. 991-994
-
-
Berkenstadt, M.1
Ries-Levavi, L.2
Cuckle, H.3
Peleg, L.4
Barkai, G.5
-
9
-
-
65949096495
-
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
-
Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman R. 2009. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet 46:266-271.
-
(2009)
J Med Genet
, vol.46
, pp. 266-271
-
-
Berry-Kravis, E.1
Hessl, D.2
Coffey, S.3
Hervey, C.4
Schneider, A.5
Yuhas, J.6
Hutchison, J.7
Snape, M.8
Tranfaglia, M.9
Nguyen, D.V.10
Hagerman, R.11
-
10
-
-
84872895725
-
-
Better Start for Children With Disability. Australian Department of Families, Housing, Community Services and Indigenous Affairs. Accessed July 17, 2012.
-
Better Start for Children With Disability. 2011. Australian Department of Families, Housing, Community Services and Indigenous Affairs. http://www.betterstart.net.au Accessed July 17, 2012.
-
(2011)
-
-
-
11
-
-
79957897257
-
Newborn screening for fragile X syndrome: Do we care what parents think
-
Botkin JR. 2011. Newborn screening for fragile X syndrome: Do we care what parents think? Pediatrics 127:e1593-e1594.
-
(2011)
Pediatrics
, vol.127
-
-
Botkin, J.R.1
-
12
-
-
0041321420
-
Parental attitudes regarding newborn screening of PKU and DMD
-
Campbell E, Ross LF. 2003. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Genet Part A 120A:209-214.
-
(2003)
Am J Med Genet Part A
, vol.120 A
, pp. 209-214
-
-
Campbell, E.1
Ross, L.F.2
-
13
-
-
0032967862
-
Diagnosis of fragile-X syndrome: The experiences of parents
-
Carmichael B, Pembrey M, Turner G, Barnicoat A. 1999. Diagnosis of fragile-X syndrome: The experiences of parents. J Intellect Disabil Res 43(Pt 1):47-53.
-
(1999)
J Intellect Disabil Res
, vol.43
, Issue.PART 1
, pp. 47-53
-
-
Carmichael, B.1
Pembrey, M.2
Turner, G.3
Barnicoat, A.4
-
14
-
-
77955177288
-
Commentary on population screening for fragile X syndrome
-
Coffee B. 2010. Commentary on population screening for fragile X syndrome. Genet Med 12:411-412.
-
(2010)
Genet Med
, vol.12
, pp. 411-412
-
-
Coffee, B.1
-
15
-
-
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
-
16
-
-
18344393077
-
Fragile X syndrome carrier screening in the prenatal genetic counselling setting
-
Cronister A, DiMaio M, Mahony MJ, Donnenfeld AE, Hallam S. 2005. Fragile X syndrome carrier screening in the prenatal genetic counselling setting. Genet Med 7:246-250.
-
(2005)
Genet Med
, vol.7
, pp. 246-250
-
-
Cronister, A.1
DiMaio, M.2
Mahony, M.J.3
Donnenfeld, A.E.4
Hallam, S.5
-
17
-
-
0037084852
-
Premuation and intermediate-size FMR1 alleles on 10572 males form the general population: Loss of an AGG interruption is a late event in generation of fragile X syndrome alleles
-
Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. 2002. Premuation and intermediate-size FMR1 alleles on 10572 males form the general population: Loss of an AGG interruption is a late event in generation of fragile X syndrome alleles. Hum Mol Genet 11:371-378.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
18
-
-
0034021185
-
Reproduction decisions after neonatal screening identified cystic fibrosis
-
Dudding T, Wilcken B, Burgess B, Hambly J, Turner G. 2000. Reproduction decisions after neonatal screening identified cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 82:124-127.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.82
, pp. 124-127
-
-
Dudding, T.1
Wilcken, B.2
Burgess, B.3
Hambly, J.4
Turner, G.5
-
19
-
-
69249093477
-
Expansion of an FMR1 grey-zone allele to a full mutation in two generations
-
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. 2009. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 11:306-310.
-
(2009)
J Mol Diagn
, vol.11
, pp. 306-310
-
-
Fernandez-Carvajal, I.1
Lopez Posadas, B.2
Pan, R.3
Raske, C.4
Hagerman, P.J.5
Tassone, F.6
-
20
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick Jr., R.G.9
Warren, S.T.10
-
21
-
-
79952052294
-
Evaluation of the validity and utility of genetic testing for rare diseases
-
Grosse S, Kalman L, Khoury M. 2010. Evaluation of the validity and utility of genetic testing for rare diseases. Adv Exp Med Biol 686:115-131.
-
(2010)
Adv Exp Med Biol
, vol.686
, pp. 115-131
-
-
Grosse, S.1
Kalman, L.2
Khoury, M.3
-
23
-
-
57049092347
-
Testing for fragile X gene mutations throughout the life span
-
Hagerman RJ, Hagerman PJ. 2008. Testing for fragile X gene mutations throughout the life span. JAMA 300:2419-2421.
-
(2008)
JAMA
, vol.300
, pp. 2419-2421
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
24
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
25
-
-
59449085928
-
Advances in the treatment of fragile X syndrome
-
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. 2009. Advances in the treatment of fragile X syndrome. Pediatrics 123:378-390.
-
(2009)
Pediatrics
, vol.123
, pp. 378-390
-
-
Hagerman, R.J.1
Berry-Kravis, E.2
Kaufmann, W.E.3
Ono, M.Y.4
Tartaglia, N.5
Lachiewicz, A.6
Kronk, R.7
Delahunty, C.8
Hessl, D.9
Visootsak, J.10
Picker, J.11
Gane, L.12
Tranfaglia, M.13
-
26
-
-
78751627969
-
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
-
Hantash F, Goos D, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom C. 2010. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening. Genet Med 12:162-173.
-
(2010)
Genet Med
, vol.12
, pp. 162-173
-
-
Hantash, F.1
Goos, D.2
Tsao, D.3
Quan, F.4
Buller-Burckle, A.5
Peng, M.6
Jarvis, M.7
Sun, W.8
Strom, C.9
-
27
-
-
57349153944
-
A systematic review of the effects of disclosing carrier results generated through newborn screening
-
Hayeems R, Bytautas J, Miller F. 2008. A systematic review of the effects of disclosing carrier results generated through newborn screening. J Genet Couns 17:538-549.
-
(2008)
J Genet Couns
, vol.17
, pp. 538-549
-
-
Hayeems, R.1
Bytautas, J.2
Miller, F.3
-
28
-
-
0027234571
-
Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy
-
Hildes E, Jacobs H, Cameron A, Seshia S, Booth F, Evans J, Wrogermann K, Greenberg C. 1993. Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy. J Med Genet 30:670-674.
-
(1993)
J Med Genet
, vol.30
, pp. 670-674
-
-
Hildes, E.1
Jacobs, H.2
Cameron, A.3
Seshia, S.4
Booth, F.5
Evans, J.6
Wrogermann, K.7
Greenberg, C.8
-
29
-
-
77955176551
-
A systematic review of population screening for fragile X syndrome
-
Hill M, Archibald A, Cohen J, Metcalfe S. 2010. A systematic review of population screening for fragile X syndrome. Genet Med 12:396-410.
-
(2010)
Genet Med
, vol.12
, pp. 396-410
-
-
Hill, M.1
Archibald, A.2
Cohen, J.3
Metcalfe, S.4
-
30
-
-
84874539508
-
-
Human Genetics Society of Australasia. . Alexandria, NSW, Australia.
-
Human Genetics Society of Australasia. 2011. Newborn bloodspot testing policy. Alexandria, NSW, Australia.
-
(2011)
Newborn bloodspot testing policy
-
-
-
31
-
-
84872977161
-
-
International Society for Neonatal Screening. ISNS General Guidelines for Neonatal Screening.
-
International Society for Neonatal Screening. 2008. ISNS General Guidelines for Neonatal Screening.
-
(2008)
-
-
-
33
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. 2003. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Greco, C.7
Des Portes, V.8
Jardini, T.9
Levine, R.10
Berry-Kravis, E.11
Brown, W.T.12
Schaeffer, S.13
Kissel, J.14
Tassone, F.15
Hagerman, P.J.16
-
34
-
-
33749010659
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont S, Leehey M, Hagerman R. Beckett L, Hagerman P. 2006. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 43:804-809.
-
(2006)
J Med Genet
, vol.43
, pp. 804-809
-
-
Jacquemont, S.1
Leehey, M.2
Hagerman, R.3
Beckett, L.4
Hagerman, P.5
-
35
-
-
78650937072
-
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
-
Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B. 2011. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 3:64ra1.
-
(2011)
Sci Transl Med
, vol.3
-
-
Jacquemont, S.1
Curie, A.2
des Portes, V.3
Torrioli, M.G.4
Berry-Kravis, E.5
Hagerman, R.J.6
Ramos, F.J.7
Cornish, K.8
He, Y.9
Paulding, C.10
Neri, G.11
Chen, F.12
Hadjikhani, N.13
Martinet, D.14
Meyer, J.15
Beckmann, J.S.16
Delange, K.17
Brun, A.18
Bussy, G.19
Gasparini, F.20
Hilse, T.21
Floesser, A.22
Branson, J.23
Bilbe, G.24
Johns, D.25
Gomez-Mancilla, B.26
more..
-
36
-
-
84872924186
-
-
Current trends in newborn screening refusal. 36th Human Genetics Society of Australasia Annual Scientific Meeting, Canberra, Australia.
-
Junek R, Wilcken B. Wiley V. 2012. Current trends in newborn screening refusal. 36th Human Genetics Society of Australasia Annual Scientific Meeting, Canberra, Australia.
-
(2012)
-
-
Junek, R.1
Wilcken, B.2
Wiley, V.3
-
37
-
-
0034964308
-
Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: Integration of gene tests and fetal karyotyping
-
Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynanen M. 2001. Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: Integration of gene tests and fetal karyotyping. BJOG 108:505-509.
-
(2001)
BJOG
, vol.108
, pp. 505-509
-
-
Kallinen, J.1
Marin, K.2
Heinonen, S.3
Mannermaa, A.4
Palotie, A.5
Ryynanen, M.6
-
38
-
-
61949322929
-
Pediatricians' knowledge of and attitudes toward fragile X syndrome screening
-
Kemper A, Bailey D. 2009. Pediatricians' knowledge of and attitudes toward fragile X syndrome screening. Acad Pediatr 9:114-117.
-
(2009)
Acad Pediatr
, vol.9
, pp. 114-117
-
-
Kemper, A.1
Bailey, D.2
-
39
-
-
56749183594
-
Information and consent for newborn screening: Practices and attitudes of service providers
-
Kerruish NJ, Webster D, Dickson N. 2008. Information and consent for newborn screening: Practices and attitudes of service providers. J Med Ethics 34:648-652.
-
(2008)
J Med Ethics
, vol.34
, pp. 648-652
-
-
Kerruish, N.J.1
Webster, D.2
Dickson, N.3
-
40
-
-
18544371505
-
Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
-
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. 2001. Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 3:200-205.
-
(2001)
Genet Med
, vol.3
, pp. 200-205
-
-
Maddalena, A.1
Richards, C.S.2
McGinniss, M.J.3
Brothman, A.4
Desnick, R.J.5
Grier, R.E.6
Hirsch, B.7
Jacky, P.8
McDowell, G.A.9
Popovich, B.10
Watson, M.11
Wolff, D.J.12
-
41
-
-
23244439758
-
Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors
-
McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett R, Pettersen B. 2005. Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. J Genet Couns 14:249-270.
-
(2005)
J Genet Couns
, vol.14
, pp. 249-270
-
-
McConkie-Rosell, A.1
Finucane, B.2
Cronister, A.3
Abrams, L.4
Bennett, R.5
Pettersen, B.6
-
42
-
-
36448984927
-
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders
-
McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane L, Coffey S, Sherman S, Nelson L, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman R. 2007. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns 16:593-606.
-
(2007)
J Genet Couns
, vol.16
, pp. 593-606
-
-
McConkie-Rosell, A.1
Abrams, L.2
Finucane, B.3
Cronister, A.4
Gane, L.5
Coffey, S.6
Sherman, S.7
Nelson, L.8
Berry-Kravis, E.9
Hessl, D.10
Chiu, S.11
Street, N.12
Vatave, A.13
Hagerman, R.14
-
43
-
-
52049110786
-
A model for offering carrier testing for fragile X syndrome to nonpregnant women: Results from a pilot study
-
Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. 2008. A model for offering carrier testing for fragile X syndrome to nonpregnant women: Results from a pilot study. Genet Med 10:525-535.
-
(2008)
Genet Med
, vol.10
, pp. 525-535
-
-
Metcalfe, S.1
Jacques, A.2
Archibald, A.3
Burgess, T.4
Collins, V.5
Henry, A.6
McNamee, K.7
Sheffield, L.8
Slater, H.9
Wake, S.10
Cohen, J.11
-
44
-
-
33645082502
-
The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases
-
Migeon BR. 2006. The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. JAMA 295:1428-1433.
-
(2006)
JAMA
, vol.295
, pp. 1428-1433
-
-
Migeon, B.R.1
-
45
-
-
72449160095
-
Clinical obligations and public health programmes: Healthcare provider reasoning about managing the incidental results of newborn screening
-
Miller FA, Hayeems RZ, Bombard Y, Little J, Carroll JC, Wilson B, Allanson J, Paynter M, Bytautas JP, Christensen R, Chakraborty P. 2009. Clinical obligations and public health programmes: Healthcare provider reasoning about managing the incidental results of newborn screening. J Med Ethics 35:626-634.
-
(2009)
J Med Ethics
, vol.35
, pp. 626-634
-
-
Miller, F.A.1
Hayeems, R.Z.2
Bombard, Y.3
Little, J.4
Carroll, J.C.5
Wilson, B.6
Allanson, J.7
Paynter, M.8
Bytautas, J.P.9
Christensen, R.10
Chakraborty, P.11
-
46
-
-
0031831797
-
Cystic fibrosis newborn screening: Impact on reproductive behavior and implications for genetic counseling
-
Mischler E, Wilfond B, Frost N, Laxova A, Reiser C, Sauer C, Makholm L, Shen G, Feenan L, McCarthy C, Farrell P. 1998. Cystic fibrosis newborn screening: Impact on reproductive behavior and implications for genetic counseling. Pediatrics 102:44-52.
-
(1998)
Pediatrics
, vol.102
, pp. 44-52
-
-
Mischler, E.1
Wilfond, B.2
Frost, N.3
Laxova, A.4
Reiser, C.5
Sauer, C.6
Makholm, L.7
Shen, G.8
Feenan, L.9
McCarthy, C.10
Farrell, P.11
-
47
-
-
33845896312
-
Exploring existing and deliberated community perspectives of newborn screening: Informing the development of state and national policy standards in newborn screening and the use of dried blood spots
-
Muchamore I, Morphett L, Barlow-Stewart K. 2006. Exploring existing and deliberated community perspectives of newborn screening: Informing the development of state and national policy standards in newborn screening and the use of dried blood spots. Aust New Zealand Health Policy 3:14.
-
(2006)
Aust New Zealand Health Policy
, vol.3
, pp. 14
-
-
Muchamore, I.1
Morphett, L.2
Barlow-Stewart, K.3
-
48
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin S, Brown W, Glicksman A, Houck G, Gargano A, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel J, Matthijs G, Rousseau F, Steinbach P, Vaisanen M, von Koskull H, Sherman S. 2003. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72:454-464.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.1
Brown, W.2
Glicksman, A.3
Houck, G.4
Gargano, A.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
Macpherson, J.13
Mandel, J.14
Matthijs, G.15
Rousseau, F.16
Steinbach, P.17
Vaisanen, M.18
von Koskull, H.19
Sherman, S.20
more..
-
49
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
50
-
-
0036201367
-
Newborn screening for Duchenne muscular dystrophy: A psychosocial study
-
Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM. 2002. Newborn screening for Duchenne muscular dystrophy: A psychosocial study. Arch Dis Child Fetal Neonatal Ed 86:F91-F95.
-
(2002)
Arch Dis Child Fetal Neonatal Ed
, vol.86
-
-
Parsons, E.P.1
Clarke, A.J.2
Hood, K.3
Lycett, E.4
Bradley, D.M.5
-
51
-
-
0035077123
-
An assessment of screening strategies for fragile X syndrome in the UK
-
Pembrey M, Barnicoat A, Carmichael B, Bobrow M, Turner G. 2001. An assessment of screening strategies for fragile X syndrome in the UK. Health Technol Assess 5:1-95.
-
(2001)
Health Technol Assess
, vol.5
, pp. 1-95
-
-
Pembrey, M.1
Barnicoat, A.2
Carmichael, B.3
Bobrow, M.4
Turner, G.5
-
52
-
-
70349974168
-
The state of synapses in fragile X syndrome
-
Pfeiffer BE, Huber KM. 2009. The state of synapses in fragile X syndrome. Neuroscientist 15:549-567.
-
(2009)
Neuroscientist
, vol.15
, pp. 549-567
-
-
Pfeiffer, B.E.1
Huber, K.M.2
-
53
-
-
33646799764
-
Attitudes of new mothers towards genetics and newborn screening
-
Quinlivan J, Suriadi C. 2006. Attitudes of new mothers towards genetics and newborn screening. J Psychosom Obstet Gynaecol 27:67-72.
-
(2006)
J Psychosom Obstet Gynaecol
, vol.27
, pp. 67-72
-
-
Quinlivan, J.1
Suriadi, C.2
-
54
-
-
34249940138
-
Fragile X syndrome: Assessment and treatment implications
-
Reiss A, Hall S. 2007. Fragile X syndrome: Assessment and treatment implications. Child Adolesc Psychiatr Clin N Am 16:663-675.
-
(2007)
Child Adolesc Psychiatr Clin N Am
, vol.16
, pp. 663-675
-
-
Reiss, A.1
Hall, S.2
-
55
-
-
0036293867
-
Pilot study for the neonatal screening of fragile X syndrome
-
Rife M, Mallolas J, Badenas C, Tazon B, Miguelez M, Pampols T, Sanchez A, Mila 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
-
-
Rife, M.1
Mallolas, J.2
Badenas, C.3
Tazon, B.4
Miguelez, M.5
Pampols, T.6
Sanchez, A.7
Mila, M.8
-
56
-
-
84872954280
-
-
Fragile X parental opinions towards newborn screening programme for fragile X syndrome. 11th International Congress of Human Genetics, Brisbane, Australia.
-
Rogers C, Boyle J, Christie L, Devitt F, Field M, Turner G. 2006. Fragile X parental opinions towards newborn screening programme for fragile X syndrome. 11th International Congress of Human Genetics, Brisbane, Australia.
-
(2006)
-
-
Rogers, C.1
Boyle, J.2
Christie, L.3
Devitt, F.4
Field, M.5
Turner, G.6
-
57
-
-
33645575043
-
Screening for conditions that do not meet the Wilson and Junger criteria: The case of Duchenne muscular dystropy
-
Ross LF. 2006. Screening for conditions that do not meet the Wilson and Junger criteria: The case of Duchenne muscular dystropy. Am J Hum Genet 140A:914-922.
-
(2006)
Am J Hum Genet
, vol.140 A
, pp. 914-922
-
-
Ross, L.F.1
-
58
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome
-
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. 1995. Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.L.3
Khandjian, E.W.4
Morgan, K.5
-
59
-
-
56049114681
-
Fragile X syndrome detection in newborns-pilot study
-
Saul R, Friez M, Eaves K, Stapleton G, Collins J, Schwartz C, Stevenson R. 2008. Fragile X syndrome detection in newborns-pilot study. Genet Med 10:714-719.
-
(2008)
Genet Med
, vol.10
, pp. 714-719
-
-
Saul, R.1
Friez, M.2
Eaves, K.3
Stapleton, G.4
Collins, J.5
Schwartz, C.6
Stevenson, R.7
-
60
-
-
0142031147
-
Screening for fragile X syndrome: Parent attitudes and perspectives
-
Skinner D, Sparkman K, Bailey D. 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.2
Bailey, D.3
-
61
-
-
79957903589
-
Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project
-
Skinner D, Choudhury S, Sideris J, Guarda S, Buansi A, Roche M, Powell C, Bailey DB Jr. 2011. Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics 127:e1455-e1463.
-
(2011)
Pediatrics
, vol.127
-
-
Skinner, D.1
Choudhury, S.2
Sideris, J.3
Guarda, S.4
Buansi, A.5
Roche, M.6
Powell, C.7
Bailey Jr., D.B.8
-
62
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, Yadav-Shah M, Sherman SL. 2005. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 20:402-412.
-
(2005)
Hum Reprod
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
Allen, E.G.4
Anido, A.E.5
Paquin, J.J.6
Yadav-Shah, M.7
Sherman, S.L.8
-
63
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. 1992. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1:397-400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
64
-
-
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
-
65
-
-
33747437686
-
Newborn screening for cystic fibrosis: Parents' preferences regarding counseling at the time of infants' sweat test
-
Tluczek A, Koscik R, Modaff P, Pfeil D, Rock M, Farrell P, Lifchez C, Freeman M, Gershan W, Zaleski C, Sullivan B. 2006. Newborn screening for cystic fibrosis: Parents' preferences regarding counseling at the time of infants' sweat test. J Genet Couns 15:277-291.
-
(2006)
J Genet Couns
, vol.15
, pp. 277-291
-
-
Tluczek, A.1
Koscik, R.2
Modaff, P.3
Pfeil, D.4
Rock, M.5
Farrell, P.6
Lifchez, C.7
Freeman, M.8
Gershan, W.9
Zaleski, C.10
Sullivan, B.11
-
67
-
-
33846017336
-
Current status of newborn screening: Decision-making about the conditions to include in screening programs
-
Watson MS. 2006. Current status of newborn screening: Decision-making about the conditions to include in screening programs. Ment Retard Dev Disabil Res Rev 12:230-235.
-
(2006)
Ment Retard Dev Disabil Res Rev
, vol.12
, pp. 230-235
-
-
Watson, M.S.1
-
68
-
-
0014345394
-
Principles and practice of mass screening for disease
-
Wilson JM, Jungner YG. 1968. Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65:281-393.
-
(1968)
Bol Oficina Sanit Panam
, vol.65
, pp. 281-393
-
-
Wilson, J.M.1
Jungner, Y.G.2
|