Published in Am J Reprod Immunol on May 01, 2003
Breast carcinoma during pregnancy. International recommendations from an expert meeting. Cancer (2006) 2.04
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93
Population dynamics of persistent Staphylococcus aureus isolated from the airways of cystic fibrosis patients during a 6-year prospective study. J Clin Microbiol (2003) 1.69
Kirner's deformity of all fingers in a 5-year-old girl: soft-tissue enhancement with normal bones on contrast-enhanced MRI. Pediatr Radiol (2003) 1.62
Giant cavernous haemangioma with Kasabach-Merritt syndrome: a case report and review. Eur J Pediatr (2002) 1.42
Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion (2005) 1.42
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Proinflammatory role of proteinase-activated receptor-2 in humans and mice during cutaneous inflammation in vivo. FASEB J (2003) 1.22
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet (2007) 1.17
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab (2004) 1.16
Mitotic centromere-associated kinesin (MCAK): a potential cancer drug target. Oncotarget (2011) 1.13
UBD, a downstream element of FOXP3, allows the identification of LGALS3, a new marker of human regulatory T cells. Lab Invest (2006) 1.12
Establishment of a benign meningioma cell line by hTERT-mediated immortalization. Lab Invest (2005) 1.03
Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young (2003) 1.01
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet A (2004) 1.01
Smoking and pregnancy--a review on the first major environmental risk factor of the unborn. Int J Environ Res Public Health (2013) 1.00
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2004) 1.00
Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum Mutat (2003) 0.99
Expression of toll-like receptors in neonatal sepsis. Pediatr Res (2005) 0.98
Association of a functional 1019C>G 5-HT1A receptor gene polymorphism with panic disorder with agoraphobia. Int J Neuropsychopharmacol (2004) 0.97
Polo-like kinase 1 inhibitors, mitotic stress and the tumor suppressor p53. Cell Cycle (2013) 0.97
Autologous placental blood transfusion for the therapy of anaemic neonates. Biol Neonate (2002) 0.97
Intrapartum signal quality with external fetal heart rate monitoring: a two way trial of external Doppler CTG ultrasound and the abdominal fetal electrocardiogram. Arch Gynecol Obstet (2012) 0.96
Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr (2002) 0.96
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. Hum Mutat (2002) 0.95
Delayed interval delivery in twin and triplet pregnancies: 6 years of experience in one perinatal center. J Perinat Med (2012) 0.95
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatr Nephrol (2005) 0.94
Function of survivin in trophoblastic cells of the placenta. PLoS One (2013) 0.93
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. J Clin Endocrinol Metab (2010) 0.93
Efficacy, recovery, and safety of RBCs from autologous placental blood: clinical experience in 52 newborns. Transfusion (2003) 0.93
Parvovirus B19 infection in pregnancy: quantitative viral DNA analysis using a kinetic fluorescence detection system (TaqMan PCR). J Med Virol (2002) 0.92
Neuropathology of Raine syndrome. Acta Neuropathol (2001) 0.91
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol (2003) 0.90
Acute focal bacterial nephritis in 25 children. Pediatr Nephrol (2007) 0.90
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. J Clin Endocrinol Metab (2009) 0.90
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn (2002) 0.90
Lung cancer during pregnancy involving the products of conception and a review of the literature. Arch Gynecol Obstet (2002) 0.89
p53 is not directly relevant to the response of Polo-like kinase 1 inhibitors. Cell Cycle (2012) 0.89
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol (2007) 0.88
Intrapartum heart rate ambiguity: a comparison of cardiotocogram and abdominal fetal electrocardiogram with maternal electrocardiogram. Gynecol Obstet Invest (2013) 0.88
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab (2005) 0.88
Measurement of transcutaneous hemoglobin concentration by noninvasive white-light spectroscopy in infants. Pediatrics (2005) 0.88
Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data. Horm Res Paediatr (2013) 0.87
Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol (2011) 0.87
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 0.87
Polo-like kinase 1 regulates the stability of the mitotic centromere-associated kinesin in mitosis. Oncotarget (2014) 0.87
Clinical hypnosis before external cephalic version. Am J Clin Hypn (2012) 0.86
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab (2006) 0.86
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative. Int J Pediatr Endocrinol (2011) 0.86
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. J Clin Endocrinol Metab (2008) 0.86
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol (2013) 0.86
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system. Hum Mutat (2009) 0.85
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn (2006) 0.85
Problems and challenges in the diagnosis of vertical infection with human cytomegalovirus (CMV): lessons from two accidental cases. J Clin Virol (2011) 0.84
Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism. Dermatoendocrinol (2012) 0.83
Hashimoto encephalopathy in a 15-year-old-girl: EEG findings and follow-up. Pediatr Neurol (2009) 0.83
Identity, potency, in vivo viability, and scaling up production of lentiviral vector-induced dendritic cells for melanoma immunotherapy. Hum Gene Ther Methods (2012) 0.82
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency. PLoS One (2011) 0.82
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. Pediatr Dev Pathol (2011) 0.82
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms. Gene (2012) 0.82
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. J Am Soc Nephrol (2002) 0.82
Use of polymorphisms in the noncoding region of the human mitochondrial genome to identify potential contamination of human leukemia-lymphoma cell lines. Hematol J (2004) 0.81
Palatal development of preterm and low birthweight infants compared to term infants - What do we know? Part 1: The palate of the term newborn. Head Face Med (2005) 0.81
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family. Gen Comp Endocrinol (2011) 0.81
The Effects of Clinical Hypnosis versus Neurolinguistic Programming (NLP) before External Cephalic Version (ECV): A Prospective Off-Centre Randomised, Double-Blind, Controlled Trial. Evid Based Complement Alternat Med (2012) 0.81
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatr Res (2005) 0.81
The novel brain-specific tryptophan hydroxylase-2 gene in panic disorder. J Psychopharmacol (2006) 0.81
Palatal development of preterm and low birthweight infants compared to term infants -- What do we know? Part 3: discussion and conclusion. Head Face Med (2005) 0.79
Current practices and prospects for standardization of the hematopoietic colony-forming unit assay: a report by the cellular therapy team of the Biomedical Excellence for Safer Transfusion (BEST) Collaborative. Cytotherapy (2013) 0.79
Frequency and characterization of DNA methylation defects in children born SGA. Eur J Hum Genet (2012) 0.79
Androgen receptor function links human sexual dimorphism to DNA methylation. PLoS One (2013) 0.79
Palatal development of preterm and low birthweight infants compared to term infants - What do we know? Part 2: The palate of the preterm/low birthweight infant. Head Face Med (2005) 0.79
Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? Eur J Hum Genet (2005) 0.79
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. J Clin Endocrinol Metab (2006) 0.78
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Horm Res (2009) 0.78
Serum concentrations of adrenal steroids and their precursors as a measure of maturity of adrenocortical function in very premature newborns. Horm Res Paediatr (2010) 0.78
Surface modifications by gas plasma control osteogenic differentiation of MC3T3-E1 cells. Acta Biomater (2012) 0.78
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene. Sex Dev (2014) 0.78
Proteome analysis of distinct developmental stages of human natural killer (NK) cells. Mol Cell Proteomics (2013) 0.78
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. Am J Nephrol (2004) 0.78
Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing. Horm Res Paediatr (2012) 0.78
Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test. Growth Horm IGF Res (2011) 0.77
Gastroschisis: a 15-year, single-center experience. Pediatr Surg Int (2002) 0.77
Engineering new bone via a minimally invasive route using human bone marrow-derived stromal cell aggregates, microceramic particles, and human platelet-rich plasma gel. Tissue Eng Part A (2012) 0.77
High incidence of heparin-induced allergic delayed-type hypersensitivity reactions in pregnancy. J Allergy Clin Immunol (2013) 0.77
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. Eur J Endocrinol (2014) 0.76
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions. J Mol Med (Berl) (2005) 0.76
Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines. Nat Rev Endocrinol (2010) 0.75
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia. Horm Res Paediatr (2012) 0.75
Differentiation of single populations in a bidirectional mixed lymphocyte culture using X and Y chromosome-specific FiSH markers. J Immunol Methods (2002) 0.75
Effect of pathological perinatal conditions on the maternofetal transfer of mononuclear cells. Fetal Diagn Ther (2002) 0.75
Neonatal lymphocytes dominate against lymphocytes of their own mother but not against allogenic maternal or adult lymphocytes in bidirectional mixed lymphocyte cultures. Fetal Diagn Ther (2003) 0.75
Processing of peripheral blood progenitor cell components in improved clean areas does not reduce the rate of microbial contamination. Transfusion (2002) 0.75
Infants of mothers with HELLP syndrome compensate intrauterine growth retardation faster than unaffected premature infants: does HELLP change fetal programming? Biol Neonate (2002) 0.75