Published in J Clin Endocrinol Metab on July 13, 2011
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Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood (2007) 3.73
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood (2012) 3.44
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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev (2011) 1.89
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood (2012) 1.84
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood (2004) 1.70
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Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr (2014) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Thymus and mediastinal node involvement in childhood Langerhans cell histiocytosis: long-term follow-up from the French national cohort. Pediatr Blood Cancer (2013) 1.54
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab (2004) 1.53
Rationale for the diabetic retinopathy clinical research network treatment protocol for center-involved diabetic macular edema. Ophthalmology (2011) 1.52
Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. Blood (2013) 1.50
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol (2008) 1.50
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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
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. Hum Mutat (2012) 1.46
Analysis of a French cohort of patients with large granular lymphocyte leukemia: a report on 229 cases. Haematologica (2010) 1.44
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes (2004) 1.43
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab (2005) 1.40
B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease. J Clin Immunol (2010) 1.39
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. Horm Res Paediatr (2015) 1.39
Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis. J Exp Med (2012) 1.39
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci (2011) 1.33
The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report. Support Cancer Ther (2006) 1.30
B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One (2012) 1.29
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Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet (2009) 1.23
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Insulin cell mass is altered in Csf1op/Csf1op macrophage-deficient mice. J Leukoc Biol (2004) 1.22
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes (2007) 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
Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia. Euro Surveill (2016) 1.21
Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol (Oxf) (2005) 1.20
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet (2002) 1.19
Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5. Mol Cell Biol (2007) 1.19
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers. JAMA (2011) 1.19
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes (2009) 1.14
Microcephaly: a radiological review. Pediatr Radiol (2009) 1.14
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res (2006) 1.13
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab (2002) 1.12
2'-Chlorodeoxyadenosine (2-CdA) as salvage therapy for Langerhans cell histiocytosis (LCH). results of the LCH-S-98 protocol of the Histiocyte Society. Pediatr Blood Cancer (2009) 1.12
Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis (2013) 1.11
Insulin resistance and the metabolic syndrome in obese French children. Clin Endocrinol (Oxf) (2006) 1.11
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Hum Mutat (2010) 1.11
Expansion of regulatory T cells in patients with Langerhans cell histiocytosis. PLoS Med (2007) 1.10
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics (2007) 1.08
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. J Biol Chem (2011) 1.06
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
Microstructural development of human brain assessed in utero by diffusion tensor imaging. Pediatr Radiol (2006) 1.04
Langerhans' cell histiocytosis of the liver in adults. Clin Res Hepatol Gastroenterol (2011) 1.02
Characterization of insulin secretion and resistance in type 2 diabetes of adolescents. J Clin Endocrinol Metab (2005) 1.01
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis (2012) 1.01
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res (2005) 1.00
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr (2011) 0.99
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. Eur J Endocrinol (2010) 0.98
Neonatal hyperglycaemia and abnormal development of the pancreas. Best Pract Res Clin Endocrinol Metab (2008) 0.98
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum Genet (2007) 0.98
Postnatal clinical and imaging follow-up of infants with prenatal isolated mild ventriculomegaly: a series of 101 cases. Pediatr Radiol (2007) 0.98
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab (2006) 0.97
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol (2010) 0.97
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
Endocrine pancreas development in growth-retarded human fetuses. Diabetes (2002) 0.96
Herpes-virus infection in patients with Langerhans cell histiocytosis: a case-controlled sero-epidemiological study, and in situ analysis. PLoS One (2008) 0.96
Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clin Endocrinol (Oxf) (2006) 0.96
Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry. Pediatr Blood Cancer (2009) 0.95
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. Horm Res Paediatr (2014) 0.95
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr (2003) 0.95
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur J Endocrinol (2008) 0.95
Complications and treatment of patients with β-thalassemia in France: results of the National Registry. Haematologica (2009) 0.95
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr (2012) 0.95
Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony-stimulating factor. Semin Hematol (2002) 0.94
Epidemiology of thyroid dysgenesis: the familial component. Horm Res Paediatr (2010) 0.93
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood (2014) 0.93
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion. J Clin Endocrinol Metab (2006) 0.92
Spectrum of Human Foxe1/TTF2 Mutations. Horm Res Paediatr (2010) 0.91
Renal outcome in children with antenatal diagnosis of severe CAKUT. Pediatr Nephrol (2011) 0.91
The importance of rare diseases: from the gene to society. Arch Dis Child (2010) 0.91
Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass. Diabetologia (2014) 0.91
Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up. Eur Radiol (2007) 0.91
Clinicopathologic, phenotypic, and genotypic characteristics of gastrointestinal mesenchymal tumors. Clin Gastroenterol Hepatol (2004) 0.90
Reactivations in multisystem Langerhans cell histiocytosis: data of the international LCH registry. J Pediatr (2008) 0.90