Published in Am J Med Genet A on May 01, 2010
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr (2011) 1.84
A review of trisomy X (47,XXX). Orphanet J Rare Dis (2010) 1.53
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics (2012) 1.39
Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. J Child Psychol Psychiatry (2012) 1.21
Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis (2010) 1.18
47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr (2013) 1.15
Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation. PLoS Genet (2014) 1.09
Height matters-from monogenic disorders to normal variation. Nat Rev Endocrinol (2013) 1.05
Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol (2015) 0.99
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. BMJ Open (2012) 0.96
Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil (2012) 0.87
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. Neuroimage Clin (2013) 0.85
Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb. Genetics (2014) 0.81
Estrogens and Androgens in Skeletal Physiology and Pathophysiology. Physiol Rev (2017) 0.81
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. J Hum Genet (2015) 0.80
Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. Medicine (Baltimore) (2016) 0.80
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest (2016) 0.79
Leydig cell tumor in a patient with 49,XXXXY karyotype: a review of literature. Reprod Biol Endocrinol (2015) 0.78
A Track Record on SHOX: From Basic Research to Complex Models and Therapy. Endocr Rev (2016) 0.78
Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies. Brain Struct Funct (2014) 0.77
XYY syndrome: a 13-year-old boy with tall stature. Ann Pediatr Endocrinol Metab (2015) 0.76
Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study. Genes Brain Behav (2013) 0.76
Is microcephaly a so-far unrecognized feature of XYY syndrome? Meta Gene (2014) 0.75
Triple x syndrome with short stature: case report and literature review. Iran J Pediatr (2012) 0.75
A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome. Genes Brain Behav (2014) 0.75
Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr (2016) 0.75
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev (2003) 4.88
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
Examination of US puberty-timing data from 1940 to 1994 for secular trends: panel findings. Pediatrics (2008) 3.74
Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology (2011) 3.15
Advances in the treatment of fragile X syndrome. Pediatrics (2009) 3.10
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68
Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics (2009) 2.67
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58
Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab (2006) 2.50
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
Body mass index in relation to semen quality and reproductive hormones among 1,558 Danish men. Fertil Steril (2004) 2.40
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35
Autism profiles of males with fragile X syndrome. Am J Ment Retard (2008) 2.35
Public health implications of altered puberty timing. Pediatrics (2008) 2.26
ATM activation in normal human tissues and testicular cancer. Cell Cycle (2005) 2.25
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet (2007) 2.25
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet (2005) 2.17
Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr (2012) 2.14
Using electronic patient records to discover disease correlations and stratify patient cohorts. PLoS Comput Biol (2011) 2.14
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Recent decline in age at breast development: the Copenhagen Puberty Study. Pediatrics (2009) 2.09
Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy. Pacing Clin Electrophysiol (2015) 2.08
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06
Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04
Mitochondrial dysfunction in autism. JAMA (2010) 2.04
Human semen quality in the new millennium: a prospective cross-sectional population-based study of 4867 men. BMJ Open (2012) 2.03
The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr (2007) 2.02
Vitamin D receptor and vitamin D metabolizing enzymes are expressed in the human male reproductive tract. Hum Reprod (2010) 2.00
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn (2009) 1.94
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn (2005) 1.91
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem (2010) 1.86
The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet (2003) 1.82
Do perfluoroalkyl compounds impair human semen quality? Environ Health Perspect (2009) 1.81
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry (2006) 1.80
Clinical review: Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab (2012) 1.80
Gene polymorphisms and male infertility--a meta-analysis and literature review. Reprod Biomed Online (2007) 1.79
Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord (2007) 1.77
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology (2008) 1.75
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet (2009) 1.72
Caffeine intake and semen quality in a population of 2,554 young Danish men. Am J Epidemiol (2010) 1.69
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62
Childhood exposure to phthalates: associations with thyroid function, insulin-like growth factor I, and growth. Environ Health Perspect (2010) 1.60
Female reproductive disorders: the roles of endocrine-disrupting compounds and developmental timing. Fertil Steril (2008) 1.60
Prenatal and adult exposures to smoking are associated with adverse effects on reproductive hormones, semen quality, final height and body mass index. Hum Reprod (2011) 1.60
Sperm counts, data responsibility, and good scientific practice. Epidemiology (2011) 1.59
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry (2011) 1.59
Klinefelter syndrome in clinical practice. Nat Clin Pract Urol (2007) 1.59
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia. J Pathol (2011) 1.59
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev (2006) 1.58
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn (2010) 1.58
Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56
Embryonic stem cell-like features of testicular carcinoma in situ revealed by genome-wide gene expression profiling. Cancer Res (2004) 1.56
Dysregulation of the mitosis-meiosis switch in testicular carcinoma in situ. J Pathol (2013) 1.56
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56
Association of sleep disturbances with reduced semen quality: a cross-sectional study among 953 healthy young Danish men. Am J Epidemiol (2013) 1.54
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet (2006) 1.53
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care (2006) 1.52
Is human fecundity declining? Int J Androl (2006) 1.52
Shorter anogenital distance predicts poorer semen quality in young men in Rochester, New York. Environ Health Perspect (2011) 1.52
From embryonic stem cells to testicular germ cell cancer-- should we be concerned? Int J Androl (2006) 1.48
Association between organic dietary choice during pregnancy and hypospadias in offspring: a study of mothers of 306 boys operated on for hypospadias. J Urol (2012) 1.47
Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr (2004) 1.47
Amygdala dysfunction in men with the fragile X premutation. Brain (2006) 1.46
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet (2004) 1.44
The fragile X premutation presenting as essential tremor. Arch Neurol (2003) 1.43
Science and policy on endocrine disrupters must not be mixed: a reply to a "common sense" intervention by toxicology journal editors. Environ Health (2013) 1.42
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest (2012) 1.42
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet (2006) 1.42
Association Between Use of Marijuana and Male Reproductive Hormones and Semen Quality: A Study Among 1,215 Healthy Young Men. Am J Epidemiol (2015) 1.41
Phenotypic characterisation of immune cell infiltrates in testicular germ cell neoplasia. J Reprod Immunol (2013) 1.41
Duration of adrenal insufficiency during treatment for childhood acute lymphoblastic leukemia. J Pediatr Hematol Oncol (2011) 1.41
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics (2012) 1.39
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39
Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am J Med Genet A (2007) 1.39
[Pituitary insufficiency following head trauma]. Ugeskr Laeger (2007) 1.39
A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38
Association of in utero exposure to maternal smoking with reduced semen quality and testis size in adulthood: a cross-sectional study of 1,770 young men from the general population in five European countries. Am J Epidemiol (2004) 1.38
The BoneXpert method for automated determination of skeletal maturity. IEEE Trans Med Imaging (2009) 1.37
Age at puberty and the emerging obesity epidemic. PLoS One (2009) 1.37
Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocrinol Metab (2010) 1.37