William Ted Brown
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William Ted Brown's Degrees
- PhD Genetics Stanford University
- Doctorate Medicine Stanford University
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(Suggest an Edit or Addition)William Ted Brown's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome (2003) (1969)
- Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. (2003) (716)
- Analysis of neocortex in three males with the fragile X syndrome. (1991) (520)
- The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes (2010) (500)
- Apolipoprotein E ∈4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases (1993) (495)
- Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. (1999) (470)
- Oxidative stress in autism: increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin--the antioxidant proteins. (2004) (388)
- Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. (2003) (367)
- Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. (2002) (352)
- IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation (2011) (282)
- CHROMOSOME 21q21 SUBLOCALISATION OF GENE ENCODING BETA-AMYLOID PEPTIDE IN CEREBRAL VESSELS AND NEURITIC (SENILE) PLAQUES OF PEOPLE WITH ALZHEIMER DISEASE AND DOWN SYNDROME (1987) (250)
- Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome (1989) (249)
- Foetal thymic transplant in a case of Digeorge's syndrome. (1968) (231)
- Decreased GABAA receptor expression in the seizure-prone fragile X mouse (2005) (210)
- Adult fragile X syndrome (1985) (205)
- Fmr1 knockout mouse has a distinctive strain-specific learning impairment (2000) (195)
- Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test (1993) (186)
- Autism is associated with the fragile-X syndrome (1982) (185)
- Familial transmission of the FMR1 CGG repeat. (1996) (185)
- Evidence of founder chromosomes in fragile X syndrome (1992) (184)
- Brain IL-6 elevation causes neuronal circuitry imbalances and mediates autism-like behaviors. (2012) (182)
- Fragile X and autism: a multicenter survey. (1986) (176)
- Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. (1993) (172)
- Impact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome (2014) (168)
- Mosaicism in fragile X affected males. (1994) (154)
- Erratum to “NF-κB Signaling in the Brain of Autistic Subjects” (2013) (142)
- Fragile X gene instability: anchoring AGGs and linked microsatellites. (1995) (142)
- Social gaze, social avoidance, and repetitive behavior in fragile X males: a controlled study. (1988) (140)
- Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment (2017) (139)
- Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. (1991) (134)
- ASSOCIATION OF FRAGILE X SYNDROME WITH AUTISM (1982) (133)
- Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1. (1997) (124)
- Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism (2013) (121)
- Stereological study of the neuronal number and volume of 38 brain subdivisions of subjects diagnosed with autism reveals significant alterations restricted to the striatum, amygdala and cerebellum (2014) (118)
- Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles (2013) (117)
- Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. (1994) (113)
- Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study (2013) (112)
- Association of aggressive behaviours with psychiatric disorders, age, sex and degree of intellectual disability: a large-scale survey. (2011) (112)
- Neuropsychiatric Symptoms of Fragile X Syndrome (2004) (112)
- Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. (1989) (111)
- Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers (2014) (104)
- Genes associated with autism spectrum disorder (2012) (102)
- BDNF‐Akt‐Bcl2 antiapoptotic signaling pathway is compromised in the brain of autistic subjects (2010) (102)
- Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes. (2010) (100)
- Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. (1993) (94)
- Fragile X targeted pharmacotherapy: lessons learned and future directions (2017) (94)
- RNAs that interact with the fragile X syndrome RNA binding protein FMRP. (2000) (94)
- Detection of full fragile X mutation (1992) (92)
- Fragile X analysis of 1112 prenatal samples from 1991 to 2010 (2011) (88)
- Progeria: a human-disease model of accelerated aging. (1992) (88)
- Effects of sampling context on spontaneous expressive language in males with fragile X syndrome or Down syndrome. (2012) (86)
- Expression of inflammatory cytokines, Bcl2 and cathepsin D are altered in lymphoblasts of autistic subjects. (2011) (86)
- Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder (2015) (82)
- FEASIBILITY OF FRAGILE X CHROMOSOME PRENATAL DIAGNOSIS DEMONSTRATED (1981) (80)
- 5-HTTLPR variants not associated with autistic spectrum disorders (1999) (80)
- Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects (2010) (79)
- Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males. (1991) (77)
- Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families (2012) (75)
- Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human brain. (1986) (73)
- Prenatal diagnosis and carrier screening for fragile X by PCR. (1996) (71)
- Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism (2012) (71)
- A complex mutable polymorphism located within the fragile X gene (1993) (71)
- Increasing Maternal or Post-Weaning Folic Acid Alters Gene Expression and Moderately Changes Behavior in the Offspring (2014) (70)
- Fragile X syndrome: Associated neurological abnormalities and developmental disabilities (1985) (68)
- A profile of cognitive deficit in females from fragile x families (1986) (68)
- Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes. (1996) (67)
- The FRAXE Syndrome: is it time for routine screening? (1996) (63)
- Single-base resolution of mouse offspring brain methylome reveals epigenome modifications caused by gestational folic acid (2014) (60)
- Conference report: Fourth International Workshop on the fragile X and X-linked mental retardation. (1988) (58)
- Brain-region–specific alterations of the trajectories of neuronal volume growth throughout the lifespan in autism (2014) (57)
- Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C. (2005) (57)
- Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population. (1994) (57)
- Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males. (1996) (56)
- Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. (2000) (56)
- POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome (2015) (56)
- Examination of factors associated with instability of the FMR1 CGG repeat. (1998) (55)
- Analysis by high-performance liquid chromatography of hyaluronic acid and chondroitin sulfates. (1986) (54)
- Increased oxidative stress and decreased activities of Ca(2+)/Mg(2+)-ATPase and Na(+)/K(+)-ATPase in the red blood cells of the hibernating black bear. (2002) (54)
- Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis (1998) (52)
- Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin. (1996) (52)
- The Therapeutic effect of Memantine through the Stimulation of Synapse Formation and Dendritic Spine Maturation in Autism and Fragile X Syndrome (2012) (51)
- Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. (1995) (50)
- LncRNA‐regulated Infection and Inflammation Pathways Associated with Pregnancy Loss: Genome Wide Differential Expression of lncRNAs in Early Spontaneous Abortion (2014) (50)
- DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity. (1986) (50)
- Increased activities of Na+/K+-ATPase and Ca2+/Mg2+-ATPase in the frontal cortex and cerebellum of autistic individuals. (2009) (49)
- Speech-language and the fragile X syndrome: initial findings. (1987) (48)
- Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome (1990) (47)
- Experience with prenatal fragile X detection. (1984) (47)
- Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay. (2013) (47)
- A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments (2020) (47)
- Contribution of olivofloccular circuitry developmental defects to atypical gaze in autism (2013) (45)
- Progeria, a model disease for the study of accelerated aging. (1985) (45)
- Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity? (1994) (44)
- LncRNA Pathway Involved in Premature Preterm Rupture of Membrane (PPROM): An Epigenomic Approach to Study the Pathogenesis of Reproductive Disorders (2013) (44)
- Fragile X founder effects and new mutations in Finland. (1996) (44)
- Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome (2011) (43)
- Folic acid supplementation dysregulates gene expression in lymphoblastoid cells--implications in nutrition. (2011) (43)
- Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X (2012) (43)
- Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome (1986) (43)
- Monosomy 21 syndrome: Further delineation including clinical, neuropathological, cytogenetic and biochemical studies (1983) (42)
- Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis (1998) (41)
- FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males. (1999) (40)
- Reverse mutations in the fragile X syndrome. (1994) (40)
- The CHARGE association. (1990) (39)
- Autism and the fragile X syndrome. (1986) (38)
- Age-Associated Memory Changes in Adults With Williams Syndrome (2004) (38)
- Fragile X screening program in New York State. (1991) (38)
- Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene (1998) (37)
- Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians. (1999) (37)
- Screening developmentally disabled male populations for fragile X: the effect of sample size. (1988) (37)
- Folic acid therapy in the fragile X syndrome. (1984) (36)
- Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (1999) (36)
- A Neurodevelopmental Perspective on the Acquisition of Nonverbal Cognitive Skills in Adolescents With Fragile X Syndrome (2013) (34)
- Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults (2015) (34)
- Heterogeneity of late-infantile neuronal ceroid lipofuscinosis (2000) (34)
- Response to nutritional and growth hormone treatment in progeria. (1997) (32)
- The prenatal detection of the fragile X chromosome: review of recent experience. (1986) (32)
- Folic acid treatment of fragile X males: a further study. (1988) (32)
- Retraction Note: Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects (2012) (31)
- Hypermethylation of the enolase gene (ENO2) in autism (2014) (31)
- RFLP FOR LINKAGE ANALYSIS OF FRAGILE X SYNDROME (1987) (31)
- KH domain-containing proteins of yeast: absence of a fragile X gene homologue. (1999) (30)
- Fragile X syndrome in females with autism. (1989) (30)
- Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects (2012) (30)
- High dose folic acid treatment of fragile (X) males. (1986) (30)
- Studies of atypical JNCL suggest overlapping with other NCL forms. (1998) (29)
- Epigenetic regulation of lncRNA connects ubiquitin-proteasome system with infection-inflammation in preterm births and preterm premature rupture of membranes (2015) (29)
- A survey of FRAXE allele sizes in three populations. (1996) (29)
- Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients. (1999) (28)
- Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles (2002) (28)
- TESTICULAR SIZE IN FETAL FRAGILE X SYNDROME (1983) (28)
- Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations (2004) (28)
- Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate. (2013) (27)
- De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation (2009) (27)
- Taurine improves congestive functions in a mouse model of fragile X syndrome. (2009) (26)
- Alteration in amino-glycerophospholipids levels in the plasma of children with autism: a potential biochemical diagnostic marker. (2004) (26)
- Increased low-level chromosome 21 mosaicism in older individuals with Down syndrome. (1997) (25)
- Low frequencies of apparently fragile X chromosomes in normal control cultures: a possible explanation. (1986) (25)
- Autoantibodies against neuronal progenitors in sera from children with autism (2014) (25)
- New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. (1994) (25)
- NF-κB Signaling in the Brain of Autistic Subjects (2011) (24)
- Monozygotic twins with trisomy 18: a report of discordant phenotype. (1990) (24)
- Microarray Analysis Reveals Higher Gestational Folic Acid Alters Expression of Genes in the Cerebellum of Mice Offspring—A Pilot Study (2015) (24)
- DNA Methylation Profiling at Single-Base Resolution Reveals Gestational Folic Acid Supplementation Influences the Epigenome of Mouse Offspring Cerebellum (2016) (23)
- Bipolar spectrum disorder and fragile X syndrome: A family study (1993) (23)
- Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome (2003) (23)
- Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents (2018) (23)
- Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism (2017) (22)
- Sister chromatid exchange frequencies in Progeria and Werner syndrome patients. (1981) (22)
- Elevation of urinary hyaluronic acid in Werner's syndrome and progeria. (1986) (21)
- Turning on and off recurrent balanced cortical activity (21)
- Multipoint linkage of 9 anonymous probes to HPRT, factor 9, and fragile X. (1988) (21)
- Repetition priming in adults with Williams syndrome: age-related dissociation between implicit and explicit memory. (2005) (21)
- Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
- Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene (2008) (21)
- Fine mapping of an Alzheimer disease-associated gene encoding beta-amyloid protein. (1988) (20)
- Identification of FMRP‐associated mRNAs using yeast three‐hybrid system (2008) (20)
- Atypical Down syndrome and partial trisomy 21 (1983) (20)
- Mouse chromosome fragility. (1986) (19)
- ANTERIOR UVEITIS AND ALPHA-1-ANTITRYPSIN (1979) (19)
- The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism (2013) (19)
- Recent experience in prenatal fra(X) detection. (1988) (19)
- Identical twins discordant for Sotos syndrome. (1998) (18)
- Fragile X protein in newborn dried blood spots (2014) (18)
- Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. (1980) (17)
- Identification of differentially expressed transcripts and translatants targeted by knock-down of endogenous PCBP1. (2010) (17)
- No detectable mutations at Werner helicase locus in progeria (1996) (17)
- Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP) (2016) (17)
- Cognitive and molecular aspects of fragile X. (1995) (16)
- Multilocus analysis of the fragile X syndrome (1988) (15)
- Aneuploidy and the fragile X syndrome. (1988) (15)
- A Proteomic Investigation of B Lymphocytes in an Autistic Family: A Pilot Study of Exposure to Natural Rubber Latex (NRL) May Lead to Autism (2011) (15)
- CLN -encoded proteins do not interact with each other (2000) (15)
- The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA. (2000) (15)
- Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. (1999) (14)
- FRAXAC1 and DXS548 polymorphisms in the Chinese population. (1999) (14)
- The fragile X: progress toward solving the puzzle. (1990) (14)
- Haplotype analysis at the FRAXA locus in Thai subjects. (2001) (14)
- A proteomic study of Hutchinson-Gilford progeria syndrome: Application of 2D-chromotography in a premature aging disease. (2012) (14)
- Further evidence for genetic heterogeneity in the fragile X syndrome (1987) (14)
- Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. (1994) (14)
- Positive fragile X microsatellite associations point to a common mechanism of dynamic mutation evolution. (1996) (13)
- Frequency of tri- or multiradial configurations in fragile X identification. (1986) (13)
- Verbal vs. nonverbal ability, fragile X syndrome, and heterozygous carriers. (1984) (12)
- Fragile X expression increased by low cell-culture density. (1986) (12)
- Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety (2017) (12)
- Psychotic Manifestations in a Patient with Mental Retardation and a 6.2 Megabase Deletion at the Distal Short Arm of Chromosome 12 (2008) (12)
- Ubiquitin-Proteasome-Collagen (CUP) Pathway in Preterm Premature Rupture of Fetal Membranes (2017) (12)
- The strength of association between fragile(X) chromosome presence and mental retardation (1983) (12)
- Structural analysis of factor VIII antigen in von Willebrand disease. (1980) (12)
- Increased expression of β-catenin in brain microvessels of a segmentally trisomic (Ts65Dn) mouse model of Down syndrome (2008) (12)
- Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. (2000) (12)
- Genetic linkage heterogeneity in the fragile X syndrome (2004) (12)
- Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. (1992) (12)
- Chromosomal localization of several families of repetitive sequences by in situ hybridization. (1985) (12)
- Sixth international workshop on the fragile X and X-linked mental retardation. (1992) (11)
- Mode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the fragile X syndrome. (1992) (11)
- Fifth international workshop on fragile X and X-linked mental retardation. (1992) (11)
- Distal duplication 14q: Report of three cases and further delineation of the syndrome (2004) (10)
- Prenatal diagnosis of fragile X syndrome (1991) (10)
- Novel Epigenetic Regulation of Alpha-Synuclein Expression in Down Syndrome (2014) (10)
- FRA(X)(p22) NOT ASSOCIATED WITH INFANTILE AUTISM (1984) (10)
- Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation. (1999) (10)
- A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation. (2013) (10)
- Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies. (1999) (10)
- Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection. (1999) (9)
- Neuroendocrine alterations in the fragile X mouse. (2012) (9)
- Detection of HLA antigens on progeria syndrome fibroblasts (1980) (9)
- Prenatally detected fragile X females: long-term follow-up studies show high risk of mental impairment. (1992) (9)
- Ultrastructure of the fragile X chromosome: new observations on the fragile site. (1999) (9)
- Delayed Development of the Claustrum in Autism (2014) (9)
- Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. (1997) (9)
- Type, Topography, and Sequelae of Neuropathological Changes Shaping Clinical Phenotype of Autism (2009) (8)
- Identification of novel partner proteins of PCBP1. (2009) (8)
- Constitutive fragile sites in fra(X) individuals. (1988) (8)
- Detection of fragile X non-penetrant males by DNA marker analysis. (1991) (8)
- The fragile X syndrome. (1984) (7)
- Reduced mRNA for G3BP in fragile X cells: Evidence of FMR1 gene regulation (1999) (7)
- Isolation and regional localization by in situ hybridization of a unique gene segment to chromosome 21. (1984) (7)
- The molecular basis of fragile sites. (1996) (7)
- A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. (2011) (7)
- IN-SITU HYBRIDISATION OF THE β-AMYLOID PROTEIN PROBE TO CHROMOSOME 9 IN PATIENTS WITH FAMILIAL ALZHEIMER'S DISEASE (1987) (7)
- Pulsed-field gradient-gel studies around the fragile site. (1988) (6)
- Isolation of specific chromosomes and their DNA (1985) (6)
- Transmission electron microscopy of chromosomes by longitudinal section preparation: application to fragile X chromosome analysis. (1997) (6)
- Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications (2015) (6)
- Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus. (1991) (6)
- Collaborative prospective study of the fragile X syndrome: one-year progress report. (1992) (6)
- Upregulation of β-catenin expression in down syndrome model Ts65Dn mouse brain (2009) (6)
- 81 Mitochondrial abnormalities in lymphoblasts from autism (2010) (6)
- Polymorphism of FXR1 showing lack of association with autism. (1997) (6)
- Viral Infection‐Induced Differential Expression of LncRNAs Associated with Collagen in Mouse Placentas and Amniotic Sacs (2015) (6)
- Longer brainstem auditory evoked response latencies of individuals with fragile X syndrome related to sedation. (1997) (6)
- Human chromatid ultrastructure: new observations with scanning and transmission electron microscopy. (2006) (6)
- Cystathionine disappearance with neuronal loss: a possible neuronal marker. (1985) (6)
- Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304. (1991) (5)
- Laboratory aspects of prenatal fra(X) detection. (1991) (5)
- Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997. (1999) (5)
- Fragile X syndrome in two siblings with major congenital malformations. (1996) (5)
- Variability of thymidylate synthase activity in whole blood cultures treated with FUdR. (1986) (5)
- Fragile X syndrome: linkage analysis in black and white populations. (1988) (5)
- Fragile X chromosome frequency is consistent temporally and within replicate cultures. (1986) (5)
- Reply to “FRAXAC2 instability” (1994) (5)
- The fragile X syndrome. (1989) (5)
- Possible founder effects for FRAXE alleles. (1999) (5)
- Prospects for gene therapy in the fragile X syndrome. (2004) (4)
- Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). (2005) (4)
- Long-term changes in calbindin D(28K) immunoreactivity in the rat hippocampus after cardiac arrest. (2002) (4)
- Perspectives and molecular diagnosis of the fragile X syndrome. (1995) (4)
- Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter (2013) (4)
- The fragile X syndrome: variability of expression in carrier females. (1988) (4)
- Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings. (2006) (4)
- Mental Retardation and Isoleucine Metabolism (2015) (4)
- The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity (2012) (4)
- Occurrence of aneuploidy for the X chromosome in over 1,300 unrelated specimens screened for the fragile X chromosome. (1994) (3)
- Alpha 1-antitrypsin: apparent molecular weight heterogeneity shown by two-dimensional electrophoresis. (1982) (3)
- Simultaneous expression of the rare and common fragile sites on the X chromosome (1991) (3)
- Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis. (1991) (3)
- Fragile X Syndrome and Autism Spectrum Disorders (2013) (3)
- Fragile X expression in short-term whole blood cultures is affected by cell density. (1988) (3)
- Hypothesis regarding the nature of the fragile X mutation (1987) (3)
- The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2‐q13) (2018) (3)
- Molecular characterization of a DNA probe, U6.2, located close to the fragile X locus. (1991) (3)
- Fragile X syndrome: neuropathology center. (1988) (3)
- Assignment of proteins to human chromosome 21 using two-dimensional gel electrophoresis and somatic cell genetics: an approach to the study of Down syndrome. (1987) (3)
- Identification of novel CLN 2 mutations shows Canadian specific NCL 2 alleles (2002) (3)
- Genetics and expression of the fragile X syndrome. (1987) (2)
- Linkage in fragile X families of three distal flanking markers: ST14, DX13, and F8. (1991) (2)
- Apparent FMR1 allele instability in non-fragile X males. (2000) (2)
- FMR1 CGG expansion to full mutation: What is the lower limit in premutation females? (2000) (2)
- In situ nick translation of the fragile X region. (1988) (2)
- Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families (2012) (2)
- An anonymous single copy chromosome 21 probe, DS21D2, associated with a frequent RFLP. (1985) (2)
- Prenatal detection of fra(X)(q27.3) in female identical twins: reliability of low level cytogenetic prenatal expression in females. (1992) (2)
- The Fragile X Syndrome a (1986) (2)
- Clinical aspects of the fragile X syndrome. (2012) (2)
- Retraction Note: Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects (2012) (2)
- Cytogenetically negative, linkage positive "fragile X" syndrome. (1991) (2)
- 2 – The fragile X Syndrome (1992) (1)
- Cystagon Treatment for Neuronal Ceroid Lipofuscinosis: An 8-Year Case Study (2012) (1)
- First transmission electron micrograph of continuous mitotic spindle fibers between polar area and chromosome ends. (1999) (1)
- Lack of significant association between spina bifida and the fragile X syndrome. (1995) (1)
- Daily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome. (2022) (1)
- Distribution of diploidy, polyploidy, and endoreduplication in fra(X) positive and negative lymphocytes, amniocytes, and chorionic villi. (1991) (1)
- The frequency of fragile X syndrome among selected patients at Songklanagarind Hospital during 1991-1996, studied by cytogenetic and molecular methods. (1997) (1)
- In-situ hybridisation of the beta-amyloid protein probe to chromosome 9 in patients with familial Alzheimer's disease. (1987) (1)
- Development of a Quantitative FMRP Assay for Mouse Tissue Applications (2021) (1)
- (Epi)genetic variants of the sarcomere-desmosome are associated with premature utero-contraction in spontaneous preterm labor (2020) (1)
- A high frequency NcoI RFLP detected in the Alzheimer amyloid peptide gene. (1988) (1)
- Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS. (2009) (1)
- SV40-transformed fragile (X) amniocytes. (1991) (1)
- PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation (1999) (0)
- Institute for Basic Research Modified Overt Aggression Scale (2016) (0)
- The fragile X syndrome. (1992) (0)
- Narcolepsy and Developmental Disability (2016) (0)
- Figure 1. [Medications that inhibit the farnesylation of progerin]. (2015) (0)
- BETA‐AMYLOID PROTEIN PROBE HYBRIDIZED TO CHROMOSOME 9 IN 3 ALZHEIMER DISEASE INDIVIDUALS (1989) (0)
- Neuropsychiatric Symptoms of Fragile X Syndrome and Pharmacotherapy (2004) (0)
- [Table, GeneReview Scope]. (2015) (0)
- 8 Protein Alterations in Mental Retardation (2007) (0)
- New Trends in Brain and Tissue Banking for Autism Research Inhibition of Eye Blinking Reveals How Toddlers with ASD Attend Differently to What They Watch (2012) (0)
- Distribution of apolipoprotein E genotypes in fragile X syndrome and Batten disease. (1999) (0)
- Table 3. [Progeroid Laminopathy: Causative Allelic Variants and Clinical Features Compared to HGPS]. (2015) (0)
- Erratum to: Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study (2013) (0)
- Brainstem auditory evoked responses in males with fragile X syndrome: Laterality and sedation effects (1992) (0)
- LACK SIGNIFICANT ASSOCIATION BETWEEN SPINA FIBIDA AND THE FRAGILE X CHROMOSOME (1995) (0)
- Fragile X targeted pharmacotherapy: lessons learned and future directions (2017) (0)
- 432 LOW PLASMA DHEA AND DHEA SULFATE IN PROGERIA. DIMINISHED RESPONSE TO CORTROSYN (1985) (0)
- RFLP analysis in 5 Sicilian families with the fragile X syndrome. (1991) (0)
- Single cell analysis shows different FMR1 CGG repeat stability in sperm and lymphocytes of premutation males (1997) (0)
- Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications (2013) (0)
- Correction to the conference report: Fourth international workshop on the fragile X and X‐linked mental retardation (1991) (0)
- Molecular markers of fragile X: application to males at risk in fragile X families. (1991) (0)
- Molecular markers of fragile X: recent research developments. (1991) (0)
- The genetics of Familial Alzheimer’s Disease (1988) (0)
- Table 2. [Summary of Molecular Genetic Testing Used in Hutchinson-Gilford Progeria Syndrome]. (2015) (0)
- GENETICS OF FAMILIAL ALZHEIMER DISEASE (1988) (0)
- Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism (2013) (0)
- GENETICS IN CLINICAL PRACTICE Guidelines for the diagnosis of fragile X syndrome (0)
- Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X Acog—american Academy of Obstetrics and Gynecology Cf—cystic Fibrosis Fmr1—fragile X Mental Retardation 1 Fmrp—fragile X Mental Retardation Protei (2012) (0)
- Table 4. [LMNA Pathogenic Variants Discussed in This GeneReview]. (2015) (0)
- 2008 World Congress on In Vitro Biology June 14–28, 2008 (2008) (0)
- Blood Samples for Progeria Study (1979) (0)
- Is Telomere Shortening Related to Progeria (1999) (0)
- Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors (1994) (0)
- Fragile X: its detectability. (1982) (0)
- A second hypermutable DNA sequence is located within the fragile X gene (1994) (0)
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