Published in Fetal Diagn Ther on July 01, 2003
Fetal bowel anomalies--US and MR assessment. Pediatr Radiol (2012) 0.85
Prenatal Aneuploidies Computerized Screening (SCA TEST): a pilot study on 1000 women. J Prenat Med (2007) 0.75
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2012) 4.64
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Nonpathogenic SIV infection of African green monkeys induces a strong but rapidly controlled type I IFN response. J Clin Invest (2009) 3.89
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Chikungunya disease in nonhuman primates involves long-term viral persistence in macrophages. J Clin Invest (2010) 2.92
Human embryonic stem cells reveal recurrent genomic instability at 20q11.21. Nat Biotechnol (2008) 2.84
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Outcome of and prognostic factors for herpes simplex encephalitis in adult patients: results of a multicenter study. Clin Infect Dis (2002) 2.71
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Using and reporting the Delphi method for selecting healthcare quality indicators: a systematic review. PLoS One (2011) 2.51
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
Antigen crosspresentation by human plasmacytoid dendritic cells. Immunity (2007) 2.42
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Serum anti-Müllerian hormone is more strongly related to ovarian follicular status than serum inhibin B, estradiol, FSH and LH on day 3. Hum Reprod (2003) 2.30
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity (2005) 2.16
Uterine necrosis following pelvic arterial embolization for post-partum hemorrhage: review of the literature. Eur J Obstet Gynecol Reprod Biol (2013) 2.05
Amniotic fluid beta-endorphin: a prognostic marker for gastroschisis? J Pediatr Surg (2002) 2.03
Primary infection with simian immunodeficiency virus: plasmacytoid dendritic cell homing to lymph nodes, type I interferon, and immune suppression. Blood (2008) 1.99
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest (2011) 1.88
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics (2007) 1.75
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med (2011) 1.71
Plasmacytoid dendritic cell dynamics and alpha interferon production during Simian immunodeficiency virus infection with a nonpathogenic outcome. J Virol (2008) 1.62
Phenotype and function of natural killer cells in systemic lupus erythematosus: excess interferon-γ production in patients with active disease. Arthritis Rheum (2011) 1.59
Coronavirus 229E-related pneumonia in immunocompromised patients. Clin Infect Dis (2003) 1.58
Type I interferon production is profoundly and transiently impaired in primary HIV-1 infection. J Infect Dis (2005) 1.54
Efficiency and tolerance of mitotane in Cushing's disease in 76 patients from a single center. Eur J Endocrinol (2012) 1.51
Ultrasonographic cervical length measurement is not a better predictor of preterm delivery than digital examination in a population of patients with idiopathic preterm labor. Eur J Obstet Gynecol Reprod Biol (2004) 1.47
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
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
Limits of early diagnosis of herpes simplex encephalitis in children: a retrospective study of 38 cases. Clin Infect Dis (2003) 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
Vaginal birth after cesarean section: X-ray pelvimetry at term is informative. J Perinat Med (2006) 1.42
Diagnostic accuracy of insulin-like growth factor binding protein-1 for amniotic fluid embolism*. Crit Care Med (2012) 1.41
Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome. Prenat Diagn (2012) 1.41
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab (2005) 1.40
Acute plasma biomarkers of T cell activation set-point levels and of disease progression in HIV-1 infection. PLoS One (2012) 1.39
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med (2012) 1.35
French experience of 2009 A/H1N1v influenza in pregnant women. PLoS One (2010) 1.35
Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation. J Urol (2007) 1.31
HIV type 1-infected dendritic cells induce apoptotic death in infected and uninfected primary CD4 T lymphocytes. AIDS Res Hum Retroviruses (2004) 1.31
Type I interferon production in HIV-infected patients. J Leukoc Biol (2006) 1.29
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet (2007) 1.28
Evaluation of the one-step multiplex real-time reverse transcription-PCR ProFlu-1 assay for detection of influenza A and influenza B viruses and respiratory syncytial viruses in children. J Clin Microbiol (2007) 1.28
Viruses induce high expression of BAFF by salivary gland epithelial cells through TLR- and type-I IFN-dependent and -independent pathways. Eur J Immunol (2008) 1.27
Laparoscopic partial splenectomy: indications and results of a multicenter retrospective study. Surg Endosc (2007) 1.23
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr (2010) 1.21
The expanding spectrum of renal diseases associated with antiphospholipid syndrome. Am J Kidney Dis (2003) 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
Anti-Müllerian hormone and inhibin B as predictors of pregnancy after treatment by in vitro fertilization/intracytoplasmic sperm injection. Fertil Steril (2008) 1.19
Fetal and neonatal thyroid function in relation to maternal Graves' disease. Best Pract Res Clin Endocrinol Metab (2004) 1.19
Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents. J Clin Endocrinol Metab (2011) 1.18
Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutières syndrome. Glia (2008) 1.18
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Microcephaly: a radiological review. Pediatr Radiol (2009) 1.14
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab (2002) 1.12
Fetal fibrochondrogenesis at 26 weeks' gestation. Prenat Diagn (2002) 1.12
Human induced pluripotent stem cells can reach complete terminal maturation: in vivo and in vitro evidence in the erythropoietic differentiation model. Haematologica (2012) 1.09
The management of long gap esophageal atresia. J Pediatr Surg (2005) 1.09
Type I interferon production by plasmacytoid dendritic cells and monocytes is triggered by viruses, but the level of production is controlled by distinct cytokines. J Interferon Cytokine Res (2002) 1.09
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Guillain-Barré syndrome and influenza virus infection. Clin Infect Dis (2009) 1.05
The CGGGG insertion/deletion polymorphism of the IRF5 promoter is a strong risk factor for primary Sjögren's syndrome. Arthritis Rheum (2009) 1.05
Microstructural development of human brain assessed in utero by diffusion tensor imaging. Pediatr Radiol (2006) 1.04
Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis. Prenat Diagn (2013) 1.03
Human chorionic gonadotropin produced by the invasive trophoblast but not the villous trophoblast promotes cell invasion and is down-regulated by peroxisome proliferator-activated receptor-gamma. Endocrinology (2007) 1.03
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med (2015) 1.02
Involvement of connexin 43 in human trophoblast cell fusion and differentiation. J Cell Sci (2003) 1.00
Incorporation of green fluorescent protein into the essential envelope glycoprotein B of herpes simplex virus type 1. J Virol Methods (2002) 1.00
Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development. J Clin Endocrinol Metab (2009) 0.99
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet (2009) 0.99
Hepatitis delta virus proteins repress hepatitis B virus enhancers and activate the alpha/beta interferon-inducible MxA gene. J Gen Virol (2009) 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
Differential gene expression profiles of invasive and non-invasive non-functioning pituitary adenomas based on microarray analysis. Endocr Relat Cancer (2010) 0.97
Replication of respiratory viruses, particularly influenza virus, rhinovirus, and coronavirus in HuH7 hepatocarcinoma cell line. J Med Virol (2005) 0.97
Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases. Prenat Diagn (2002) 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
A nomogram for predicting lymph node metastasis of presumed stage I and II endometrial cancer. Am J Obstet Gynecol (2012) 0.96
Reporter gene assay for the quantification of the activity and neutralizing antibody response to TNFα antagonists. J Immunol Methods (2011) 0.96
Predictive factors of advanced interventional procedures in a multicentre severe postpartum haemorrhage study. Intensive Care Med (2011) 0.96
Management of choledochal cyst: Evolution with antenatal diagnosis and laparoscopic approach. J Minim Access Surg (2012) 0.96
Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clin Endocrinol (Oxf) (2006) 0.96
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr (2003) 0.95