Published in Prenat Diagn on December 01, 2005
Effect of mammographic screening from age 40 years on breast cancer mortality at 10 years' follow-up: a randomised controlled trial. Lancet (2006) 6.78
Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med (2015) 6.12
Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn (2013) 2.87
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening. Prenat Diagn (2004) 2.71
Frequency of Down's syndrome and neural-tube defects in the same family. Lancet (2003) 2.21
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
The onion skin sign: a specific sonographic marker of appendiceal mucocele. J Ultrasound Med (2004) 1.68
Wrong biochemistry results: two case reports and observational study in 5310 patients on potentially misleading thyroid-stimulating hormone and gonadotropin immunoassay results. Clin Chem (2002) 1.61
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn (2012) 1.45
Three-stage contingent screening for Down syndrome. Prenat Diagn (2006) 1.45
Is there an increased rate of anencephaly in twins? Prenat Diagn (2005) 1.44
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol (2014) 1.44
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet (2007) 1.43
Ultrasonographic-guided percutaneous transabdominal puncture for oocyte retrieval in a rare patient with Rokitansky syndrome in an in vitro fertilization surrogacy program. Fertil Steril (2006) 1.40
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet (2009) 1.39
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol (2006) 1.37
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Mol Vis (2009) 1.32
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
First-trimester placental protein 13 screening for preeclampsia and intrauterine growth restriction. Am J Obstet Gynecol (2007) 1.27
Arteriovenous malformation after uterine curettage: a report of 3 cases. J Reprod Med (2007) 1.19
Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests. Prenat Diagn (2007) 1.07
Mitochondrial dysfunction and Down's syndrome. Bioessays (2002) 1.04
Assessing the quality and usability of smartphone apps for pain self-management. Pain Med (2014) 0.97
Paraovarian cysts of neoplastic origin are underreported. JSLS (2009) 0.96
The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A (2009) 0.95
Fetal abnormalities leading to termination of singleton pregnancy: the 7-year experience of a single medical center. Prenat Diagn (2006) 0.95
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test (2008) 0.95
Clinical, sonographic, and epidemiologic features of second- and early third-trimester spontaneous antepartum uterine rupture: a cohort study. Prenat Diagn (2008) 0.93
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling. Am J Med Genet A (2008) 0.92
The clinical characteristics and sonographic findings of maternal ovarian torsion in pregnancy. Fertil Steril (2008) 0.92
Wiedemann-Beckwith syndrome: further prenatal characterization of the condition. Am J Med Genet (2002) 0.92
Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population. Am J Obstet Gynecol (2006) 0.92
Normal sonographic values of maternal spleen size throughout pregnancy. Ultrasound Med Biol (2006) 0.92
Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011. Prenat Diagn (2011) 0.91
Practical strategies in contingent sequential screening for Down syndrome. Prenat Diagn (2005) 0.90
Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet (2013) 0.89
The cytogenetic constitution of embryos derived from immature (metaphase I) oocytes obtained after ovarian hyperstimulation. Fertil Steril (2009) 0.88
Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn (2014) 0.88
Prenatal thrombosis of the inferior vena cava and the renal veins. Prenat Diagn (2007) 0.87
Maternal serum ADAM12 levels in Down and Edwards' syndrome pregnancies at 9-12 weeks' gestation. Prenat Diagn (2006) 0.87
Down's syndrome risk estimates demonstrate considerable heterogeneity despite homogeneity of input. Ann Clin Biochem (2004) 0.87
Second trimester ultrasound prenasal thickness combined with nasal bone length: a new method of Down syndrome screening. Prenat Diagn (2005) 0.86
A novel mutation of the CLN8 gene: is there a Mediterranean phenotype? Pediatr Neurol (2007) 0.86
Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p. J Child Neurol (2002) 0.86
Model-predicted performance of second-trimester Down syndrome screening with sonographic prenasal thickness. J Ultrasound Med (2010) 0.85
Simultaneous bilateral torsion and entanglement of the adnexa. JSLS (2007) 0.84
Conservative management of ectopic pregnancy with fetal cardiac activity by combined local (sonographically guided) and systemic injection of methotrexate. Gynecol Obstet Invest (2003) 0.84
Prenasal thickness in first-trimester screening for Down syndrome. Prenat Diagn (2012) 0.84
Torsion of normal adnexa in postmenarchal women and risk of recurrence. Obstet Gynecol (2007) 0.84
Long-term follow-up of children with ovarian cysts diagnosed prenatally. Prenat Diagn (2010) 0.82
Prenatal diagnosis of sex chromosome abnormalities: the 8-year experience of a single medical center. Fetal Diagn Ther (2007) 0.82
Diagnostic hysteroscopy as a primary tool in a basic infertility workup. JSLS (2006) 0.82
Maternal serum placental growth factor and α-fetoprotein testing in first trimester screening for Down syndrome. Prenat Diagn (2013) 0.81
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol (2012) 0.80
Intrapartum measurement of cervical dilatation using translabial 3-dimensional ultrasonography: correlation with digital examination and interobserver and intraobserver agreement assessment. J Ultrasound Med (2009) 0.80
First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn (2003) 0.80
Fetal liver calcifications: an autopsy study. Virchows Arch (2012) 0.79
TERC telomerase subunit gene copy number in placentas from pregnancies complicated with intrauterine growth restriction. Early Hum Dev (2010) 0.79
Adnexal torsion involving hydatids of Morgagni: a rare cause of acute abdominal pain in adolescents. Obstet Gynecol (2006) 0.79
First trimester Down syndrome screening with dried blood spots using a dual analyte free beta hCG and PAPP-A immunofluorometric assay. Prenat Diagn (2011) 0.78
Uterine-preserving emergency surgery for cesarean scar pregnancies: another medical solution to an iatrogenic problem. Fertil Steril (2008) 0.78
Sonographic versus clinical evaluation as predictors of residual trophoblastic tissue. Hum Reprod (2005) 0.78
[Prenatal diagnosis of triploidy: the experience of Assaf-Harofe Medical Center]. Harefuah (2014) 0.78
Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]. Mol Vis (2008) 0.78
Telomere length and telomerase reverse transcriptase mRNA expression in patients with hepatitis C. Hepatogastroenterology (2013) 0.78
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population. Am J Med Genet A (2003) 0.78
Congenital hypothyroidism with Prader-Willi syndrome. J Pediatr Endocrinol Metab (2002) 0.77
Current controversies in prenatal diagnosis 1: screening for fragile X syndrome. Prenat Diagn (2012) 0.77
Diagnosis of conjoined twins before 16 weeks' gestation: the 4-year experience of one medical center. Prenat Diagn (2005) 0.77
Telomere aggregate formation in placenta specimens of pregnancies complicated with pre-eclampsia. Cancer Genet Cytogenet (2009) 0.77
Second trimester maternal serum ADAM12 levels in Down's syndrome pregnancies. Prenat Diagn (2008) 0.77
Screening for Down syndrome--incidental diagnosis of other aneuploidies. Prenat Diagn (2014) 0.77
Chorioangioma and its severe infantile sequelae: case report. Prenat Diagn (2003) 0.77
Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center. Prenat Diagn (2009) 0.77
Current concepts of Down syndrome screening tests in assisted reproduction twin pregnancies: another double trouble. Prenat Diagn (2005) 0.77
Assessment of the accuracy of multiple sonographic fetal weight estimation formulas: a 10-year experience from a single center. J Ultrasound Med (2013) 0.76
Asynchronous replication of alleles in genomes carrying a microdeletion. Isr Med Assoc J (2002) 0.76
First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn (2005) 0.76
The L locus, one of complementary genes required for anthocyanin production in onions (Allium cepa), encodes anthocyanidin synthase. Theor Appl Genet (2005) 0.76
Is neonatal risk from vasa previa preventable? The 20-year experience from a single medical center. J Clin Ultrasound (2010) 0.76
First trimester maternal serum placental protein 13 levels in singleton vs. twin pregnancies with and without severe pre-eclampsia. J Perinat Med (2013) 0.76
Termination of pregnancy due to fetal abnormalities performed after 23 weeks' gestation: analysis of indications in 144 cases from a single medical center. Fetal Diagn Ther (2009) 0.76
Model predicted Down syndrome detection rates for nuchal translucency screening in twin pregnancies. Prenat Diagn (2011) 0.76
Hyperemesis gravidarum and nonspecific abnormal EEG findings: a preliminary report. J Reprod Med (2006) 0.76
Chromosomal abnormalities and birth defects among couples with colchicine treated familial Mediterranean fever. Am J Obstet Gynecol (2005) 0.76
Combined local and systemic methotrexate treatment of viable ectopic pregnancy: outcomes of 31 cases. J Clin Ultrasound (2008) 0.76
Response to "On gestational weeks and maths". Prenat Diagn (2013) 0.75
Response to Benn. Genet Med (2013) 0.75
Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis. J Assist Reprod Genet (2010) 0.75