A second recombination hotspot associated with SHOX deletions.

A Turner syndrome neurocognitive phenotype maps to Xp22.3. Behav Brain Funct (2007) 0.92

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet (2006) 0.92

Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet (1997) 4.95

Phenotypes Associated with SHOX Deficiency. J Clin Endocrinol Metab (2001) 2.51

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome. Eur J Hum Genet (2000) 1.59

The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet (2000) 1.14

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet (2005) 1.09

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Hum Mol Genet (1998) 1.00

A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Am J Med Genet (2001) 0.84

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. Endocrinology (2006) 1.97

Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: a randomized, double-blind, placebo-controlled trial. J Clin Endocrinol Metab (2004) 1.92

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice. Mol Endocrinol (2008) 1.83

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet (2006) 1.67

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr (2005) 1.58

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons. Mol Endocrinol (2006) 1.44

Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome. Horm Res Paediatr (2010) 1.42

Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab (2014) 1.42

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics (2012) 1.39

Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A (2008) 1.32

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression. J Neurosci (2010) 1.32

Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatr Res (2008) 1.31

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab (2004) 1.29

Safety of growth hormone treatment in pediatric patients with idiopathic short stature. J Clin Endocrinol Metab (2005) 1.25

Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet (2002) 1.22

The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function. Genes Chromosomes Cancer (2006) 1.19

A serotonin and melanocortin circuit mediates D-fenfluramine anorexia. J Neurosci (2010) 1.18

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab (2006) 1.16

47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr (2013) 1.15

Brain development in Turner syndrome: a magnetic resonance imaging study. Psychiatry Res (2002) 1.14

Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab (2007) 1.12

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

Genetics and bitter taste responses to goitrin, a plant toxin found in vegetables. Chem Senses (2010) 1.06

Shyness, social anxiety, and impaired self-esteem in Turner syndrome and premature ovarian failure. JAMA (2006) 1.04

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol (2006) 1.03

Dynamic regulation of p53 subnuclear localization and senescence by MORC3. Mol Biol Cell (2007) 0.99

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol (2012) 0.98

Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab (2005) 0.98

Maternal X chromosome, visceral adiposity, and lipid profile. JAMA (2006) 0.96

Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr (2007) 0.95

Language use in females with fragile X or Turner syndrome during brief initial social interactions. J Dev Behav Pediatr (2006) 0.94

Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changes. J Clin Endocrinol Metab (2004) 0.94

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet A (2010) 0.93

A Turner syndrome neurocognitive phenotype maps to Xp22.3. Behav Brain Funct (2007) 0.92

The physical phenotype of girls and women with Turner syndrome is not X-imprinted. Hum Genet (2007) 0.89

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. J Pediatr Surg (2007) 0.89

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab (2013) 0.88

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. Am J Med Genet B Neuropsychiatr Genet (2008) 0.88

Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. J Clin Endocrinol Metab (2006) 0.87

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review. Pediatr Dermatol (2005) 0.87

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). Am J Med Genet A (2007) 0.86

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. Am J Med Genet A (2003) 0.85

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment. Horm Res Paediatr (2015) 0.84

Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Acta Paediatr (2011) 0.84

Behavioral assessment of social anxiety in females with Turner or fragile X syndrome. J Autism Dev Disord (2003) 0.83

Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levels. J Clin Endocrinol Metab (2011) 0.83

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13. J Pediatr Urol (2006) 0.82

Atypical functional brain activation during a multiple object tracking task in girls with Turner syndrome: neurocorrelates of reduced spatiotemporal resolution. Am J Intellect Dev Disabil (2010) 0.82

Clinical and hormonal status of infants with nonmosaic XXY karyotype. Acta Paediatr (2011) 0.81

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity. Endocrinology (2014) 0.81

Phenotype and X inactivation in 45,X/46,X,r(X) cases. Am J Med Genet A (2004) 0.80

Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) (2014) 0.80

Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res (2009) 0.80

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development. Eur J Hum Genet (2011) 0.80

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Hum Reprod (2007) 0.79

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes. Mol Cytogenet (2009) 0.79

Editorial: MC4R mutations--weight before screening! J Clin Endocrinol Metab (2006) 0.78

A randomized, double blind, placebo-controlled pilot trial of the safety and efficacy of atorvastatin in children with elevated low-density lipoprotein cholesterol (LDL-C) and type 1 diabetes. Pediatr Diabetes (2014) 0.77

Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes. J Neurodev Disord (2014) 0.76

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. Am J Med Genet A (2003) 0.76

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A (2013) 0.76

Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice. Endocrinology (2015) 0.76

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Hum Genet (2008) 0.76

Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial. Horm Res Paediatr (2016) 0.75

Computing power of quantitative trait locus association mapping for haploid loci. BMC Bioinformatics (2009) 0.75

Contextualized analysis of a needs assessment using the Theoretical Domains Framework: a case example in endocrinology. BMC Health Serv Res (2014) 0.75

C-Type Natriuretic Peptide (CNP) levels are altered in boys with Klinefelter syndrome. J Clin Endocrinol Metab (2012) 0.75

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. J Clin Endocrinol Metab (2009) 0.75

Magnetic resonance imaging measures of decreased aortic strain and distensibility are proportionate to insulin resistance in adolescents with type 1 diabetes mellitus. Pediatr Diabetes (2014) 0.75