Published in Genet Couns on January 01, 2003
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
Why are autism spectrum conditions more prevalent in males? PLoS Biol (2011) 2.35
Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol (2010) 1.84
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol (2013) 1.44
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
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A (2008) 1.20
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics (2008) 1.15
47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr (2013) 1.15
An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev (2009) 1.10
Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies. Dev Disabil Res Rev (2009) 1.04
Tremor in 48,XXYY syndrome. Mov Disord (2009) 0.95
Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature. Eur J Pediatr (2014) 0.94
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr (2012) 0.93
Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav (2015) 0.93
Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr (2012) 0.90
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
Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol (2012) 0.86
The XY gene hypothesis of psychosis: origins and current status. Am J Med Genet B Neuropsychiatr Genet (2013) 0.83
The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens. Ann N Y Acad Sci (2013) 0.80
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. Indian J Hum Genet (2012) 0.79
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy. J Multidiscip Healthc (2015) 0.78
Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study. Genes Brain Behav (2013) 0.76
Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence? Case Rep Endocrinol (2015) 0.75
Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr (2017) 0.75
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion. Child Adolesc Psychiatry Ment Health (2016) 0.75
Is microcephaly a so-far unrecognized feature of XYY syndrome? Meta Gene (2014) 0.75
Embryo with XYY syndrome presenting with clubfoot: a case report. Cases J (2009) 0.75
Potential Sex Differences Relative to Autism Spectrum Disorder and Metals. Curr Environ Health Rep (2017) 0.75
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) Clin Genet (1990) 2.50
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. Eur J Pediatr (1981) 2.50
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet (1997) 2.20
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet (2001) 2.14
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet (1991) 2.13
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Hum Genet (1977) 1.93
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79
Human chromosome fragility. Biochim Biophys Acta (2007) 1.77
New lethal acrofacial dysostosis syndrome. Am J Med Genet (1991) 1.70
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68
The F plasmid CcdB protein induces efficient ATP-dependent DNA cleavage by gyrase. J Mol Biol (1993) 1.68
Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet (1992) 1.65
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62
Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61
Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet (2004) 1.55
Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet (1996) 1.54
Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod (2004) 1.53
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (2000) 1.49
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am J Med Genet (1987) 1.49
Neighbourhood level and individual level SES effects on child problem behaviour: a multilevel analysis. J Epidemiol Community Health (2001) 1.47
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47
Selective advantage of fra (X) heterozygotes. Hum Genet (1990) 1.47
Cowden syndrome. J Med Genet (1995) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. Genet Couns (1998) 1.43
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet (1994) 1.43
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers. Clin Genet (1990) 1.40
Symbrachydactyly involving hands and feet. Genet Couns (1998) 1.40
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns (1992) 1.40
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. Genet Couns (1993) 1.40
Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome. Clin Genet (1985) 1.40
Early development (5 to 48 months) in Williams syndrome. A study of 14 children. Genet Couns (1999) 1.39
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet (2005) 1.39
On the familial occurrence of congenital bilateral absence of vas deferens. Clin Genet (1989) 1.38
The Coffin syndrome. Hum Genet (1977) 1.38
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet (1987) 1.37
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns (1999) 1.36
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 1.36
Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet (1978) 1.34
Anomalous cerebral venous drainage in Aarskog syndrome. Clin Genet (1984) 1.34
The Brachmann-de Lange syndrome in two siblings of normal parents. Clin Genet (1987) 1.32
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik (1973) 1.30
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity. Clin Genet (1987) 1.30
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A (2003) 1.30
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet (1992) 1.28
X-linked neuropathy: gene localization with DNA probes. Ann Neurol (1986) 1.27
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry (2006) 1.27
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet (1985) 1.27
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet (2002) 1.26
Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. J Genet Hum (1980) 1.25
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet (1997) 1.25
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet (2003) 1.23
X-linked recessively inherited non-specific mental retardation. Report of a large family. Ann Genet (1977) 1.23
Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13). Hum Genet (1979) 1.22
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet (2000) 1.21
Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet (1997) 1.21
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol (1999) 1.20
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum Genet (1983) 1.20
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics (1999) 1.19
MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet (1990) 1.19
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet (2000) 1.19
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet (2003) 1.19
Ring chromosome 15 syndrome. Hum Genet (1979) 1.18
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18
Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet (1995) 1.17
Interstitial deletion of the long arm of chromosome 15. Ann Genet (1982) 1.16
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J Med Genet (1991) 1.16
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet (2004) 1.16
Clinical profile of Angelman syndrome at different ages. Am J Med Genet (1995) 1.16
Pathogenesis of the lethal multiple pterygium syndrome. Am J Med Genet (1990) 1.15
The female and the fragile X. A study of 144 obligate female carriers. Am J Med Genet (1986) 1.15
The Coffin-Siris syndrome: report of a family and further delineation. Clin Genet (1984) 1.15
Hyperacusis in Williams syndrome: a sample survey study. Genet Couns (1997) 1.14