Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

[1]  P. Hagerman,et al.  Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. , 2009, The Journal of molecular diagnostics : JMD.

[2]  Randi J. Hagerman,et al.  Advances in the Treatment of Fragile X Syndrome , 2009, Pediatrics.

[3]  A. Nygren,et al.  Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. , 2008, The Journal of molecular diagnostics : JMD.

[4]  R. Stevenson,et al.  Fragile X syndrome detection in newborns—pilot study , 2008, Genetics in Medicine.

[5]  Daniela C. Zarnescu,et al.  Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. , 2008, Nature chemical biology.

[6]  A. Davis,et al.  Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues , 2008, Pediatrics.

[7]  P. Jacobs,et al.  Is the prevalence of Klinefelter syndrome increasing? , 2008, European Journal of Human Genetics.

[8]  P. Hagerman,et al.  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. , 2008, The Journal of molecular diagnostics : JMD.

[9]  Weimin Sun,et al.  Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome , 2007, Genetics in Medicine.

[10]  S. Freeman,et al.  The National down Syndrome Project: Design and Implementation , 2007, Public health reports.

[11]  J. Graham,et al.  Klinefelter syndrome and other sex chromosomal aneuploidies , 2006, Orphanet journal of rare diseases.

[12]  S. Waisbren,et al.  Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result , 2006, Pediatrics.

[13]  H. Muller.  The American Journal of Human Genetics Vol . 2 No . 2 June 1950 Our Load of Mutations 1 , 2006 .

[14]  C. Lin,et al.  Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique , 1976, Human Genetics.

[15]  P. Videbech,et al.  Incidence of chromosome abnormalities in newborn children. Comparison between incidences in 1969–1974 and 1980–1982 in the same area , 2004, Human Genetics.

[16]  Peng Jin,et al.  RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila , 2003, Neuron.

[17]  D. Skinner,et al.  Discovering fragile X syndrome: family experiences and perceptions. , 2003, Pediatrics.

[18]  J. Mallolas,et al.  Incidence of fragile X in 5,000 consecutive newborn males. , 2003, Genetic testing.

[19]  S. Ceman,et al.  Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. , 2002, American journal of human genetics.

[20]  D. Crawford,et al.  Prevalence of the fragile X syndrome in African-Americans. , 2002, American journal of medical genetics.

[21]  D. Munoz.  Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. , 2002, Neurology.

[22]  B. Wilfond,et al.  Ethical issues with genetic testing in pediatrics. , 2013, Pediatrics.

[23]  Dana C Crawford,et al.  FMR1 and the fragile X syndrome: Human genome epidemiology review , 2001, Genetics in Medicine.

[24]  Deborah D. Hatton,et al.  Family Experiences and Factors Associated with the Diagnosis of Fragile X Syndrome , 2000, Journal of developmental and behavioral pediatrics : JDBP.

[25]  P. Jacobs,et al.  FRAXA and FRAXE: the results of a five year survey , 2000, Journal of medical genetics.

[26]  H. Hoyme,et al.  Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics. , 2016, Pediatrics.

[27]  S. Warren,et al.  Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells , 1999, Nature Genetics.

[28]  W. Brown,et al.  Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. , 1999, American journal of medical genetics.

[29]  M. Pembrey,et al.  Diagnosis of fragile-X syndrome: the experiences of parents. , 1999, Journal of intellectual disability research : JIDR.

[30]  W. Brown,et al.  Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1. , 1997, Human molecular genetics.

[31]  L. Abramsky,et al.  47,XXY (KLINEFELTER SYNDROME) AND 47,XYY: ESTIMATED RATES OF AND INDICATION FOR POSTNATAL DIAGNOSIS WITH IMPLICATIONS FOR PRENATAL COUNSELLING , 1997, Prenatal diagnosis.

[32]  D. Ledbetter,et al.  Methylation-specif ic PCR simplifies imprinting analysis , 1997, Nature genetics.

[33]  S. Warren,et al.  Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus , 1996, Somatic cell and molecular genetics.

[34]  T. Webb,et al.  Prevalence of fragile X syndrome. , 1991, American journal of medical genetics.

[35]  H. Willard,et al.  X inactivation of the FMR1 fragile X mental retardation gene. , 1995, Journal of medical genetics.

[36]  C. Mathew,et al.  A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. , 1994, American journal of human genetics.

[37]  A. Reiss,et al.  Psychiatric disorders associated with fragile X in the young female. , 1993, Pediatrics.

[38]  J. Sutcliffe,et al.  DNA methylation represses FMR-1 transcription in fragile X syndrome. , 1992, Human molecular genetics.

[39]  L. E. McDonald,et al.  A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[40]  J. Sutcliffe,et al.  Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox , 1991, Cell.

[41]  Ben A. Oostra,et al.  Absence of expression of the FMR-1 gene in fragile X syndrome , 1991, Cell.

[42]  J. Sutcliffe,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 , 1991, Cell.

[43]  N. Yabe,et al.  A cytogenetic survey of 14,835 consecutive liveborns , 1991, Japanese Journal of Human Genetics.

[44]  J. Nielsen,et al.  Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. , 1990, Birth defects original article series.

[45]  T. Webb,et al.  The frequency of the fragile X chromosome among schoolchildren in Coventry. , 1986, Journal of medical genetics.

[46]  G. Turner,et al.  Preventive screening for the fragile X syndrome. , 1986, The New England journal of medicine.

[47]  S. Langård,et al.  Cytogenetic screening of a new‐born population , 1982, Clinical genetics.

[48]  M. Mitchell,et al.  A G‐band study of chromosomes in liveborn infants , 1980, Annals of human genetics.

[49]  Idzelene Ip.  Chromosome anomalies among newborn infants in Lithuania , 1978 .

[50]  J. Hamerton,et al.  A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. , 1976, Clinical genetics.

[51]  P. Jacobs,et al.  A cytogenetic survey of 11,680 newborn infants , 1974, Annals of human genetics.

[52]  R. Kinch,et al.  Chromosome aberrations in 2159 consecutive newborn babies. , 1969, The New England journal of medicine.