Published in J Clin Endocrinol Metab on May 15, 2007
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Altered DNA methylation patterns of the H19 differentially methylated region and the DAZL gene promoter are associated with defective human sperm. PLoS One (2013) 0.84
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. J Clin Endocrinol Metab (2014) 0.83
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New developments in Silver-Russell syndrome and implications for clinical practice. Epigenomics (2016) 0.79
Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age. BMC Med Genet (2012) 0.78
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. PLoS Genet (2016) 0.77
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11p15 DNA-methylation analysis in monozygotic twins with discordant intrauterine development due to severe twin-to-twin transfusion syndrome. Clin Epigenetics (2014) 0.76
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The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. Genet Test Mol Biomarkers (2015) 0.76
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics (2017) 0.75
Methylation Status of H19/IGF2 Differentially Methylated Region in in vitro Human Blastocysts Donated by Healthy Couples. Iran Biomed J (2016) 0.75
Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome. Afr J Paediatr Surg (2015) 0.75
Torticollis as the main presentation in a child with russell-silver syndrome: a case report. Case Rep Pediatr (2012) 0.75
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet (2017) 0.75
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. J Hum Genet (2017) 0.75
IGF-1 receptor regulates lifespan and resistance to oxidative stress in mice. Nature (2002) 10.52
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci U S A (2003) 7.64
Long-term outcome of EBV-specific T-cell infusions to prevent or treat EBV-related lymphoproliferative disease in transplant recipients. Blood (2009) 4.98
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Cytotoxic T lymphocyte therapy for Epstein-Barr virus+ Hodgkin's disease. J Exp Med (2004) 3.57
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Brain IGF-1 receptors control mammalian growth and lifespan through a neuroendocrine mechanism. PLoS Biol (2008) 2.35
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet (2003) 2.21
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab (2002) 2.13
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med (2008) 2.06
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med (2012) 2.01
Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab (2002) 2.00
Acceleration of type 1 diabetes mellitus in proinsulin 2-deficient NOD mice. J Clin Invest (2003) 2.00
Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res (2005) 1.92
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol (2008) 1.91
Gene expression profiling of human adrenocortical tumors using complementary deoxyribonucleic Acid microarrays identifies several candidate genes as markers of malignancy. J Clin Endocrinol Metab (2004) 1.91
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet (2009) 1.86
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer Res (2003) 1.82
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab (2012) 1.68
Antigen-specific cytotoxic T lymphocytes can target chemoresistant side-population tumor cells in Hodgkin lymphoma. Leuk Lymphoma (2010) 1.64
Determinants of medical care for young women with Turner syndrome. J Clin Endocrinol Metab (2009) 1.54
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression. PLoS One (2007) 1.49
Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. J Clin Endocrinol Metab (2013) 1.47
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment. J Clin Endocrinol Metab (2004) 1.46
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet (2009) 1.45
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest (2006) 1.44
Effects of recombinant human growth hormone for 1 year on body composition and muscle strength in children on long-term steroid therapy: randomized controlled, delayed-start study. J Clin Endocrinol Metab (2013) 1.43
Longitudinal evaluation and risk factors of lipodystrophy and associated metabolic changes in HIV-infected children. J Acquir Immune Defic Syndr (2005) 1.41
Hepatocyte proliferation during liver regeneration is impaired in mice with liver-specific IGF-1R knockout. FASEB J (2006) 1.39
Recognition of a subregion of human proinsulin by class I-restricted T cells in type 1 diabetic patients. Proc Natl Acad Sci U S A (2005) 1.35
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med (2011) 1.31
Prognostic parameters of metastatic adrenocortical carcinoma. J Clin Endocrinol Metab (2006) 1.30
Treatment of hypoglycemia using combined glucocorticoid and recombinant human growth hormone in a patient with a metastatic non-islet cell tumor hypoglycemia. Clin Ther (2005) 1.26
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
Endocrine involvement in pediatric-onset Langerhans' cell histiocytosis: a population-based study. J Pediatr (2004) 1.23
Long-term mortality and causes of death in isolated GHD, ISS, and SGA patients treated with recombinant growth hormone during childhood in Belgium, The Netherlands, and Sweden: preliminary report of 3 countries participating in the EU SAGhE study. J Clin Endocrinol Metab (2012) 1.22
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab (2009) 1.15
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet (2013) 1.14
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res (2006) 1.13
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat (2011) 1.11
Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab (2005) 1.10
Proliferation markers predictive of the pathological response and disease outcome of patients with breast carcinomas treated by anthracycline-based preoperative chemotherapy. Eur J Cancer (2004) 1.09
Epigenetics in Silver-Russell syndrome. Best Pract Res Clin Endocrinol Metab (2008) 1.08
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab (2005) 1.08
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol (2007) 1.07
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet (2005) 1.07
Hypoglycemic coma secondary to big insulin-like growth factor II secretion by a giant phyllodes tumor of the breast. Breast J (2007) 1.06
Children with sickle cell disease: growth and gonadal function after hematopoietic stem cell transplantation. J Pediatr Hematol Oncol (2007) 1.06
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A (2008) 1.04
Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. J Clin Endocrinol Metab (2005) 1.04
Epigenetic regulation and fetal programming. Best Pract Res Clin Endocrinol Metab (2008) 1.04
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. J Clin Endocrinol Metab (2007) 1.04
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
Early postnatal nutrition determines somatotropic function in mice. Endocrinology (2008) 1.04
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A (2013) 1.04
Beyond the hormone: insulin as an autoimmune target in type 1 diabetes. Endocr Rev (2011) 1.04
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet (2012) 1.02
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proc Natl Acad Sci U S A (2009) 1.01
IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development. Best Pract Res Clin Endocrinol Metab (2011) 1.01