-
2
-
-
42049120470
-
Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years
-
Andermann A, Blancquaert I, Beauchamp S, Dery V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 2008; 86:317-319.
-
(2008)
Bull World Health Organ
, vol.86
, pp. 317-319
-
-
Andermann, A.1
Blancquaert, I.2
Beauchamp, S.3
Dery, V.4
-
3
-
-
0015913709
-
Frequency of sickling disorder in U.S. blacks
-
Motulsky AG. Frequency of sickling disorder in U.S. blacks. N Engl J Med 1973; 288:31-33.
-
(1973)
N Engl J Med
, vol.288
, pp. 31-33
-
-
Motulsky, A.G.1
-
4
-
-
62449272809
-
Newborn screening for hemoglobinopathies in California
-
Michlitsch J, Azimi M, Hoppe C, et al. Newborn screening for hemoglobinopathies in California. Pedtr Blood Cancer 2009; 52:486-490.
-
(2009)
Pedtr Blood Cancer
, vol.52
, pp. 486-490
-
-
Michlitsch, J.1
Azimi, M.2
Hoppe, C.3
-
5
-
-
9244263870
-
Cystic fibrosis
-
14th edition, Philadelphia: WB Saunders Co.
-
Behrman RE. Cystic fibrosis. In: Nelson Textbook of Pediatrics, 14th edition, Philadelphia: WB Saunders Co. 1992, 1106-1116.
-
(1992)
Nelson Textbook of Pediatrics
, pp. 1106-1116
-
-
Behrman, R.E.1
-
6
-
-
28844487754
-
-
Cystic Fibrosis Foundation Bethesda, MD: Cystic Fibrosis Foundation
-
Cystic Fibrosis Foundation. Patient registry 2005 annual data report. Bethesda, MD: Cystic Fibrosis Foundation; 2006.
-
(2006)
Patient Registry 2005 Annual Data Report
-
-
-
7
-
-
0036511852
-
Updated assessment of cystic fibrosis mutation frequencies in non Hispanic Caucasians
-
Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non Hispanic Caucasians. Genet Med 2002; 4:90-94.
-
(2002)
Genet Med
, vol.4
, pp. 90-94
-
-
Palomaki, G.E.1
Haddow, J.E.2
Bradley, L.A.3
Fitzsimmons, S.C.4
-
8
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001; 3:149-154.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
-
9
-
-
0004015177
-
-
American College of Obstetrics and Gynecology and American College of Medical Genetics American College of Obstetrics and Gynecology publication. Washington, DC
-
American College of Obstetrics and Gynecology and American College of Medical Genetics. Preconception and prenatal carrier screening for cystic fibrosis, clinical and laboratory guidelines. 2001. American College of Obstetrics and Gynecology publication. Washington, DC.
-
(2001)
Preconception and Prenatal Carrier Screening for Cystic Fibrosis, Clinical and Laboratory Guidelines
-
-
-
10
-
-
34249697608
-
Cystic fibrosis and formes frustes of CFTR-related disease
-
Southern KW. Cystic fibrosis and formes frustes of CFTR-related disease. Respiration 2007; 74:241-251.
-
(2007)
Respiration
, vol.74
, pp. 241-251
-
-
Southern, K.W.1
-
11
-
-
41149144099
-
Carrier frequency of autosomalrecessive disorders in the Ashkenazi Jewish population: Should the rationale for mutation choice for screening be reevaluated?
-
Fares F, Badarneh K, Abosaleh M, et al. Carrier frequency of autosomalrecessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenat Diagn 2008; 28:236-241.
-
(2008)
Prenat Diagn
, vol.28
, pp. 236-241
-
-
Fares, F.1
Badarneh, K.2
Abosaleh, M.3
-
12
-
-
38149050660
-
Carrier screening in individuals of Ashkenazi Jewish descent
-
Gross SJ, Pletcher BA, Monaghan KG. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008; 10:54-56.
-
(2008)
Genet Med
, vol.10
, pp. 54-56
-
-
Gross, S.J.1
Pletcher, B.A.2
Monaghan, K.G.3
-
13
-
-
70349678533
-
Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
-
ACOG Committee Opinion Number 442
-
ACOG Committee Opinion Number 442. Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2009; 114:950-953.
-
(2009)
Obstet Gynecol
, vol.114
, pp. 950-953
-
-
-
14
-
-
0027360434
-
Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970-1993
-
The International TSD Data Collection Network
-
Kaback M, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970-1993. The International TSD Data Collection Network. JAMA 1993; 270:2307-2315.
-
(1993)
JAMA
, vol.270
, pp. 2307-2315
-
-
Kaback, M.1
Lim-Steele, J.2
Dabholkar, D.3
-
15
-
-
38149027769
-
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population
-
Monaghan KG, Feldman GL, Palomaki GE, Spector EB. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med 2008; 10:57-72.
-
(2008)
Genet Med
, vol.10
, pp. 57-72
-
-
Monaghan, K.G.1
Feldman, G.L.2
Palomaki, G.E.3
Spector, E.B.4
-
16
-
-
56749172489
-
Life expectancy in Gaucher disease type 1
-
Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol 2008; 83:896-900.
-
(2008)
Am J Hematol
, vol.83
, pp. 896-900
-
-
Weinreb, N.J.1
Deegan, P.2
Kacena, K.A.3
-
17
-
-
0032248994
-
Asymptomatic Gaucher disease: Implications for large scale screening
-
Azuri J, Elstein D, Lahad A, et al. Asymptomatic Gaucher disease: implications for large scale screening. Genet Test 1998; 2:297-299.
-
(1998)
Genet Test
, vol.2
, pp. 297-299
-
-
Azuri, J.1
Elstein, D.2
Lahad, A.3
-
18
-
-
45249106162
-
Spinal muscular atrophy
-
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008; 371:2120-2133.
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
19
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996; 3:97-110.
-
(1996)
Neurobiol Dis
, vol.3
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
20
-
-
0018214740
-
Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios and sex influence
-
Pearn J. Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios and sex influence. J Med Genet 1978; 15:414-417.
-
(1978)
J Med Genet
, vol.15
, pp. 414-417
-
-
Pearn, J.1
-
21
-
-
36049049285
-
The changing natural history of spinal muscular atrophy type 1
-
Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007; 69:1931-1936.
-
(2007)
Neurology
, vol.69
, pp. 1931-1936
-
-
Oskoui, M.1
Levy, G.2
Garland, C.J.3
-
22
-
-
0034852172
-
Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III
-
Kroksmark AK, Beckung E, Tulinius M. Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III. Europ J Paediatr Neurol 2001; 5:191-198.
-
(2001)
Europ J Paediatr Neurol
, vol.5
, pp. 191-198
-
-
Kroksmark, A.K.1
Beckung, E.2
Tulinius, M.3
-
23
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy determining gene
-
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy determining gene. Cell 1995; 80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
24
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000; 15:228-237.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
25
-
-
0028364781
-
Genetic heterogeneity in spinal muscular atrophy: A linkage analysis based assessment
-
MacKenzie AE, Jacob P, Surh L, Besner A. Genetic heterogeneity in spinal muscular atrophy: a linkage analysis based assessment. Neurology 1994; 44:919-924.
-
(1994)
Neurology
, vol.44
, pp. 919-924
-
-
MacKenzie, A.E.1
Jacob, P.2
Surh, L.3
Besner, A.4
-
26
-
-
57449107362
-
Carrier screening for spinal muscular atrophy
-
Prior TW. Carrier screening for spinal muscular atrophy. Genet Med 2008; 10:840-842.
-
(2008)
Genet Med
, vol.10
, pp. 840-842
-
-
Prior, T.W.1
-
27
-
-
66149090002
-
-
Committee on Genetics. ACOG Committee Opinion: Spinal Muscular Atrophy
-
Committee on Genetics. ACOG Committee Opinion: Spinal Muscular Atrophy. Obstetrics and Gynecology 2009; 113:1194-1196.
-
(2009)
Obstetrics and Gynecology
, vol.113
, pp. 1194-1196
-
-
-
28
-
-
0004166950
-
-
Hagerman RJ, Hagerman PJ editors 3rd ed. Baltimore: Johns Hopkins University Press
-
Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: diagnosis, treatment and research. 3rd ed. Baltimore: Johns Hopkins University Press. 2002.
-
(2002)
Fragile X Syndrome: Diagnosis Treatment and Research
-
-
-
29
-
-
0000502460
-
The fragile X syndrome
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. 8th edition. New York: McGraw Hill
-
Warren ST, Sherman SL. The fragile X syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Metabolic Basis of Inherited Disease, 8th edition. New York: McGraw Hill; 2001. pp. 1257-1289.
-
(2001)
Metabolic Basis of Inherited Disease
, pp. 1257-1289
-
-
Warren, S.T.1
Sherman, S.L.2
-
30
-
-
0026345716
-
Variation of theCGG repeat at the fratile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, et al. Variation of theCGG repeat at the fratile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
31
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
32
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003; 72:454-464.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
-
34
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97:189-194.
-
(2000)
Am J Med Genet
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
35
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
37
-
-
20444473233
-
Cost-effectiveness analysis of prenatal population based fragile X carrier screening
-
Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population based fragile X carrier screening. Am J Obstet Gynecol 2005; 192:1905-1912.
-
(2005)
Am J Obstet Gynecol
, vol.192
, pp. 1905-1912
-
-
Musci, T.J.1
Caughey, A.B.2
-
38
-
-
42449118477
-
Prevalence and instability of fragile X alleles: Implications for offering fragile X prenatal diagnosis
-
Cronister A, Teicher J, Rohlfs EM, et al. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 2008; 111:596-601.
-
(2008)
Obstet Gynecol
, vol.111
, pp. 596-601
-
-
Cronister, A.1
Teicher, J.2
Rohlfs, E.M.3
-
39
-
-
33645419803
-
Attitudes toward prenatal screening and testing for fragile X
-
Fanos JH, Spangner KA, Musci TJ. Attitudes toward prenatal screening and testing for fragile X. Genet Med 2006; 8:129-133.
-
(2006)
Genet Med
, vol.8
, pp. 129-133
-
-
Fanos, J.H.1
Spangner, K.A.2
Musci, T.J.3
-
40
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Lindton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Lindton, L.M.2
Birren, B.3
-
41
-
-
41849129568
-
Genetic screening and counseling
-
Norton ME. Genetic screening and counseling. Curr Opin Obstet Gynecol 2008; 20:157-163.
-
(2008)
Curr Opin Obstet Gynecol
, vol.20
, pp. 157-163
-
-
Norton, M.E.1
|