Published in J Clin Endocrinol Metab on March 01, 2002
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet (2005) 1.67
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet (2006) 1.67
High incidence of SHOX anomalies in individuals with short stature. J Med Genet (2006) 1.51
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci (2012) 1.21
Rare copy number variants are a common cause of short stature. PLoS Genet (2013) 1.10
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet (2005) 1.09
Skeletal Deformity Associated with SHOX Deficiency. Clin Pediatr Endocrinol (2014) 0.93
Genetic evaluation of short stature. J Clin Endocrinol Metab (2014) 0.90
Controversies in the definition and treatment of idiopathic short stature (ISS). J Clin Res Pediatr Endocrinol (2009) 0.89
Growth hormone in growth hormone deficiency. BMJ (2002) 0.84
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. Pathogenetics (2010) 0.82
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. Sci Rep (2015) 0.81
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region. BMC Med Genet (2014) 0.81
SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature. Mol Genet Genomic Med (2013) 0.81
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet (2016) 0.79
A Track Record on SHOX: From Basic Research to Complex Models and Therapy. Endocr Rev (2016) 0.78
The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome. BMC Genomics (2008) 0.77
Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature. J Clin Pathol (2006) 0.76
Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment. Eur J Pediatr (2004) 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
Tics and shorter stature: should we be looking for an association? Tremor Other Hyperkinet Mov (N Y) (2014) 0.75
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness. J Hum Genet (2016) 0.75
Cytogenetic and Molecular Genetic Characterization of Children with Short Stature. Zdr Varst (2015) 0.75
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature. Mol Syndromol (2016) 0.75
Prevalence of SHOX Haploinsufficiency among Short Statured Children. Pediatr Res (2016) 0.75
Chromosome abnormalities in Indonesian patients with short stature. Mol Cytogenet (2012) 0.75
Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis. J Assist Reprod Genet (2010) 0.75
Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature. Clin Pediatr Endocrinol (2006) 0.75
Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency. Clin Pediatr Endocrinol (2005) 0.75
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. BMC Genomics (2016) 0.75
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. Ann Pediatr Endocrinol Metab (2015) 0.75
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. J Clin Res Pediatr Endocrinol (2015) 0.75
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep (2017) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet (2002) 4.01
Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet (2010) 3.21
Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet (2008) 2.92
Promotion and provision of drinking water in schools for overweight prevention: randomized, controlled cluster trial. Pediatrics (2009) 2.38
Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study. PLoS One (2008) 2.37
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet (2008) 2.16
Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta. Nat Genet (2008) 2.13
First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome. Hum Mol Genet (2008) 1.98
Conception and spontaneous delivery after total hypophysectomy. Fertil Steril (2002) 1.94
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. Atherosclerosis (2009) 1.80
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet (2013) 1.71
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. J Clin Endocrinol Metab (2006) 1.71
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet (2006) 1.67
Reversible secondary pseudohypoaldosteronism due to pyelonephritis. Pediatr Nephrol (2002) 1.67
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet (2010) 1.66
Effect of lifestyle intervention on features of polycystic ovarian syndrome, metabolic syndrome, and intima-media thickness in obese adolescent girls. J Clin Endocrinol Metab (2011) 1.65
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res (2014) 1.64
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab (2004) 1.63
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab (2004) 1.55
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertil Steril (2004) 1.52
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet (2012) 1.50
Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J Clin Endocrinol Metab (2005) 1.50
5-HT(3) receptors: role in disease and target of drugs. Pharmacol Ther (2010) 1.49
Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency. Fertil Steril (2010) 1.42
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab (2007) 1.41
Long-Term Neurodevelopmental Outcome of Children Treated with Tri-Iodothyronine after Cardiac Surgery: Follow-Up of a Double-Blind, Randomized, Placebo-Controlled Study. Horm Res Paediatr (2015) 1.39
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Rationale and study design of the Japan environment and children's study (JECS). BMC Public Health (2014) 1.26
Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet (2010) 1.25
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. Am J Hum Genet (2006) 1.17
Declining prevalence rates for overweight and obesity in German children starting school. Eur J Pediatr (2011) 1.17
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab (2012) 1.14
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab (2006) 1.13
Cardiovascular risk in 26,008 European overweight children as established by a multicenter database. Obesity (Silver Spring) (2008) 1.13
Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2. Genomics (2009) 1.11
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A (2005) 1.10
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. Hum Mol Genet (2011) 1.09
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab (2009) 1.08
Peptide YY is a regulator of energy homeostasis in obese children before and after weight loss. J Clin Endocrinol Metab (2005) 1.08
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A (2006) 1.08
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem (2007) 1.08
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet (2012) 1.07
Possible contribution of fetal size and gestational age to myocardial tissue Doppler velocities in preterm fetuses. Eur J Obstet Gynecol Reprod Biol (2012) 1.06
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab (2009) 1.05
The HTR3A polymorphism c. -42C>T is associated with amygdala responsiveness in patients with irritable bowel syndrome. Gastroenterology (2011) 1.05
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. J Assist Reprod Genet (2007) 1.05
Childhood obesity is associated with changes in the serum metabolite profile. Obes Facts (2012) 1.05
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. Eur J Hum Genet (2007) 1.04
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One (2013) 1.04
Intima-media thickness in obese children before and after weight loss. Pediatrics (2006) 1.03
Health-related quality of life in overweight and obese youths: results of a multicenter study. Health Qual Life Outcomes (2010) 1.02
'Fat mass and obesity associated' gene (FTO): no significant association of variant rs9939609 with weight loss in a lifestyle intervention and lipid metabolism markers in German obese children and adolescents. BMC Med Genet (2008) 1.02
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum Reprod (2012) 1.02
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol (Oxf) (2013) 1.00
Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations. Epigenetics (2012) 0.99
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res (2006) 0.99
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. J Pediatr (2009) 0.99
Changes in adipose-derived inflammatory cytokines and chemokines after successful lifestyle intervention in obese children. Metabolism (2010) 0.99
Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertil Steril (2006) 0.99
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet (2008) 0.99
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. Hum Mutat (2005) 0.99
Daily insulin requirement of children and adolescents with type 1 diabetes: effect of age, gender, body mass index and mode of therapy. Eur J Endocrinol (2008) 0.99
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab (2008) 0.98
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A (2005) 0.97
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. Eur J Endocrinol (2007) 0.96
Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E. J Comp Neurol (2011) 0.96
Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors. Pharmacogenet Genomics (2008) 0.96
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A (2005) 0.95
Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients. Clin Rheumatol (2004) 0.95
Reduced sympathetic metabolites in urine of obese patients with craniopharyngioma. Pediatr Res (2007) 0.95
TSH and free triiodothyronine concentrations are associated with weight loss in a lifestyle intervention and weight regain afterwards in obese children. Eur J Endocrinol (2013) 0.94
Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr J (2005) 0.94
Overweight children and adolescents--is there a subjective need for treatment? Int J Public Health (2009) 0.94
Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet (2004) 0.94
Diabetes mellitus type 2 in childhood and adolescence in Germany and parts of Austria. Eur J Pediatr (2005) 0.94
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet (2002) 0.93
Serotonin signaling is required for Wnt-dependent GRP specification and leftward flow in Xenopus. Curr Biol (2011) 0.93
A comparison of polysomnographic variables between obese adolescents with polycystic ovarian syndrome and healthy, normal-weight and obese adolescents. Sleep Breath (2009) 0.93
Comorbidities related to BMI category in children and adolescents: German/Austrian/Swiss Obesity Register APV compared to the German KiGGS Study. Horm Res Paediatr (2011) 0.92
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab (2010) 0.92
Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Hum Reprod (2007) 0.92