Published in Eur J Hum Genet on June 01, 2001
Genomic Imprinting and Assisted Reproductive Technologies (EPIGEN) | NCT00773825
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
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet (2006) 1.83
Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm. PLoS One (2007) 1.55
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet (2006) 1.51
Adrenocortical carcinoma. Endocr Rev (2013) 1.46
Long non-coding RNAs: versatile master regulators of gene expression and crucial players in cancer. Am J Transl Res (2012) 1.33
Reprogramming cells and tissue patterning via bioelectrical pathways: molecular mechanisms and biomedical opportunities. Wiley Interdiscip Rev Syst Biol Med (2013) 1.08
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics (2014) 1.04
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet (2009) 1.01
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet (2004) 1.00
Association between birth weight and DNA methylation of IGF2, glucocorticoid receptor and repetitive elements LINE-1 and Alu. Epigenomics (2013) 0.92
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Epigenetics (2013) 0.90
Epigenetic mechanisms in developmental programming of adult disease. Drug Discov Today (2011) 0.88
Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet (2005) 0.87
Reduced DNA methylation at the PEG3 DMR and KvDMR1 loci in children exposed to alcohol in utero: a South African Fetal Alcohol Syndrome cohort study. Front Genet (2015) 0.83
Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn (2010) 0.82
IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome. Clin Epigenetics (2012) 0.81
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J Med Genet (2007) 0.79
Leukocyte DNA methylation and colorectal cancer among male smokers. World J Gastrointest Oncol (2012) 0.78
Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression. Genomics (2011) 0.77
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
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 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
Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation. Clin Epigenetics (2015) 0.75
DNA methylation-based variation between human populations. Mol Genet Genomics (2016) 0.75
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science (1994) 2.87
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet (1995) 2.27
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr (1993) 1.81
Dehydroepiandrosterone (DHEA), DHEA sulfate, and aging: contribution of the DHEAge Study to a sociobiomedical issue. Proc Natl Acad Sci U S A (2000) 1.51
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet (2006) 1.51
[Intestinal stenosis during ulceronecrotizing enterocolitis]. Arch Pediatr (1997) 1.43
Nucleotide cDNA and complete deduced amino acid sequence of a Trypanosoma cruzi ribosomal P protein (P-JL5). Nucleic Acids Res (1990) 1.38
Molecular markers and long-term recurrences in a large cohort of patients with sporadic adrenocortical tumors. Cancer Res (2001) 1.30
Acute scrotal pain in children: results of 543 surgical explorations. Pediatr Surg Int (1999) 1.26
Population exposure to ionizing radiation from medical examinations in France. Br J Radiol (2008) 1.24
A targeted partial invalidation of the insulin-like growth factor I receptor gene in mice causes a postnatal growth deficit. Endocrinology (2000) 1.21
Hormonal regulation of fetal growth. Horm Res (2006) 1.21
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19
Increased levels of insulin-like growth factor II (IGF-II) and IGF-binding protein-2 are associated with malignancy in sporadic adrenocortical tumors. J Clin Endocrinol Metab (1998) 1.18
Late thyroid toxicity in 153 long-term survivors of allogeneic bone marrow transplantation for acute lymphoblastic leukaemia. Bone Marrow Transplant (2005) 1.17
Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab (1996) 1.17
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J Med Genet (2013) 1.16
Postpneumonectomy syndrome in children: advantages and long-term follow-up of expandable prosthesis. J Pediatr Surg (2001) 1.14
[Vincristine treatment for function- and life-threatening infantile hemangioma]. Arch Pediatr (2004) 1.13
Seven years of safety and efficacy of the recombinant human growth hormone Omnitrope in the treatment of growth hormone deficient children: results of a phase III study. Horm Res (2009) 1.12
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet (2006) 1.12
Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: study on a series of 82 tumors. J Clin Endocrinol Metab (1997) 1.12
Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. J Med Genet (1993) 1.11
Experimental IGF-I receptor deficiency generates a sexually dimorphic pattern of organ-specific growth deficits in mice, affecting fat tissue in particular. Endocrinology (2001) 1.11
Localized childhood Hodgkin's disease: response-adapted chemotherapy with etoposide, bleomycin, vinblastine, and prednisone before low-dose radiation therapy-results of the French Society of Pediatric Oncology Study MDH90. J Clin Oncol (2000) 1.11
EMK protein kinase-null mice: dwarfism and hypofertility associated with alterations in the somatotrope and prolactin pathways. Dev Biol (1999) 1.10
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. Clin Genet (2012) 1.08
Malignant pheochromocytoma: clinical, biological, histologic and therapeutic data in a series of 20 patients with distant metastases. J Endocrinol Invest (1992) 1.07
Autocrine role of IGF-II in proliferation of human adrenocortical carcinoma NCI H295R cell line. J Mol Endocrinol (1999) 1.06
Twenty-five novel mutations including duplications in the ATP7A gene. Clin Genet (2011) 1.06
Clonal analysis of human adrenocortical carcinomas and secreting adenomas. Clin Endocrinol (Oxf) (1994) 1.05
Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr (1994) 1.04
Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A. Blood (1993) 1.04
Multi-centre pilot study of 2-chlorodeoxyadenosine and cytosine arabinoside combined chemotherapy in refractory Langerhans cell histiocytosis with haematological dysfunction. Eur J Cancer (2005) 1.02
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet (1994) 1.01
Alterations of the 11p15 imprinted region and the IGFs system in a case of recurrent non-islet-cell tumour hypoglycaemia (NICTH). Clin Endocrinol (Oxf) (2000) 1.01
Myhre syndrome: new reports, review, and differential diagnosis. J Med Genet (2003) 1.00
High expression of cyclin E and G1 CDK and loss of function of p57KIP2 are involved in proliferation of malignant sporadic adrenocortical tumors. J Clin Endocrinol Metab (2000) 0.98
Ubiquitous postnatal LoxP recombination using a doxycycline auto-inducible Cre transgene (DAI-Cre). Genesis (2000) 0.98
Arteriovenous malformations of the dental arcades. The place of endovascular therapy: results in 12 cases are presented. J Craniomaxillofac Surg (1998) 0.97
Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors. J Clin Endocrinol Metab (1994) 0.97
NOVH increases MMP3 expression and cell migration in glioblastoma cells via a PDGFR-alpha-dependent mechanism. FASEB J (2003) 0.97
Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant (2005) 0.97
Molecular forms of serum insulin-like growth factor (IGF)-binding proteins in man: relationships with growth hormone and IGFs and physiological significance. J Clin Endocrinol Metab (1989) 0.96
Expression of the angiogenesis markers vascular endothelial growth factor-A, thrombospondin-1, and platelet-derived endothelial cell growth factor in human sporadic adrenocortical tumors: correlation with genotypic alterations. J Clin Endocrinol Metab (2000) 0.96
[Death during sickle cell anemia crisis: possible role of morphine?]. Arch Pediatr (1995) 0.96
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet (2010) 0.95
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr (2013) 0.94
Gonadal dysgenesis in del(18p) syndrome. Am J Med Genet (1995) 0.93
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clin Genet (2012) 0.93
Clinical spectrum of gammadelta+ T cell LGL leukemia: analysis of 20 cases. Leuk Res (2007) 0.93
Complete characterization of the human IGF-I nucleotide sequence isolated from a newly constructed adult liver cDNA library. FEBS Lett (1986) 0.92
[Cholelithiasis in children with sickle cell disease: experience of a French pediatric hospital]. Arch Pediatr (2001) 0.92
Genotyping of Cre-lox mice and detection of tissue-specific recombination by multiplex PCR. Biotechniques (2001) 0.92
Characterization of human NOV in biological fluids: an enzyme immunoassay for the quantification of human NOV in sera from patients with diseases of the adrenal gland and of the nervous system. J Clin Endocrinol Metab (2003) 0.91
Functional hypothalamic amenorrhoea: a partial and reversible gonadotrophin deficiency of nutritional origin. Clin Endocrinol (Oxf) (1999) 0.91
RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation. Leukemia (2012) 0.90
Differences in the capacity of several biochemical bone markers to assess high bone turnover in early menopause and response to alendronate therapy. Osteoporos Int (2000) 0.90
Chick oviduct glucocorticosteroid receptor. Specific binding of the synthetic steroid RU 486 and immunological studies with antibodies to chick oviduct progesterone receptor. Eur J Biochem (1985) 0.90
[Early surgery of immature hemangiomas with the aid of an ultrasonic scalpel. Apropos of 81 cases]. Rev Stomatol Chir Maxillofac (2002) 0.90
Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol (Paris) (2010) 0.90
Intraoral distraction for mandibular lengthening: a technical innovation. J Craniomaxillofac Surg (1996) 0.89
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. Early Hum Dev (2000) 0.89
[Prenatal intestinal volvulus: A life-threatening event with good long-term outcome]. Arch Pediatr (2012) 0.88
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Am J Med Genet (2001) 0.88
Retinoic acid therapy in "degenerative-like" neuro-langerhans cell histiocytosis: a prospective pilot study. Pediatr Blood Cancer (2004) 0.88
Evaluation of plasma insulin-like growth factor binding protein-2 as a marker for adrenocortical tumors. Eur J Endocrinol (2001) 0.88
Glucocorticoid-induced growth arrest of lung alveolar epithelial cells is associated with increased production of insulin-like growth factor binding protein-2. Endocrinology (1996) 0.88
Histiocytosis X revealed by complex anal fistula. Eur J Pediatr Surg (1994) 0.87
A new case of a severe clinical phenotype of the cat-eye syndrome. Genet Couns (2004) 0.87
Loss of heterozygosity at the mannose 6-phosphate/insulin-like growth factor 2 receptor locus: a frequent but late event in adrenocortical tumorigenesis. Eur J Endocrinol (2001) 0.87
Hematopoietic stem cell transplantation in patients with severe Langerhans cell histiocytosis and hematological dysfunction: experience of the French Langerhans Cell Study Group. Bone Marrow Transplant (2003) 0.87
Umbilical incision for pyloromyotomy. Eur J Pediatr Surg (1997) 0.86
Plasma insulin-like growth factor I levels in the elderly: relation to plasma dehydroepiandrosterone sulfate levels, nutritional status, health and mortality. Gerontology (2001) 0.86
Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls. J Clin Endocrinol Metab (1998) 0.86
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. Clin Genet (2002) 0.86
Molecular diagnosis of Turner's syndrome. J Med Genet (1992) 0.86
High doses of deferiprone may be associated with cerebellar syndrome. BMJ (2009) 0.86
MRI features of neurodegenerative Langerhans cell histiocytosis. Eur Radiol (2006) 0.85
Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes. J Med Genet (2004) 0.85
Use of ultrasonic dissection in the early surgical management of periorbital haemangiomas. J Plast Reconstr Aesthet Surg (2007) 0.85
Detection of GM-CSF in the sera of children with Langerhans' cell histiocytosis. Pediatr Allergy Immunol (1994) 0.85
[The impact of cleft lip and palate on the parent-child relationships]. Arch Pediatr (2010) 0.85
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet (2000) 0.85