124 results on '"Benn, Peter"'
Search Results
2. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
3. Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study
4. A Founding Father of Reproductive Genetics: Eugene Pergament (1933‐2022)
5. Non‐invasive prenatal screening for fetal triploidy using single nucleotide polymorphism (SNP)‐based testing: Differential Diagnosis And Clinical Management In Cases Showing An Extra Haplotype
6. Non‐invasive prenatal testing in the management of twin pregnancies
7. Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis
8. Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed
9. The origins of aneuploidy research consortium
10. Uniparental disomy: Origin, frequency, and clinical significance
11. Obituary: Lillian YF Hsu, MD , FFACMG
12. Aneuploidy in first trimester chorionic villi and spontaneous abortions: Windows into the origin and fate of aneuploidy through embryonic and fetal development
13. Combining the use of a fetal fraction‐based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy
14. Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening
15. Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed
16. Comment on “The clinical utility of genome-wide non invasive prenatal screening”
17. Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
18. Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women
19. Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?
20. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
21. Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders
22. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma
23. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing
24. Response to “On gestational weeks and maths”
25. Efficacy of the Genetic Sonogram in a Stepwise Sequential Protocol for Down Syndrome Screening
26. Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis
27. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
28. Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women
29. 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
30. Book review
31. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
32. Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011
33. Distortions of sex ratios at birth in the United States; evidence for prenatal gender selection
34. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006
35. Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis
36. Use of the Genetic Sonogram in the United States in 2001 and 2007
37. Expected performance of second trimester maternal serum testing followed by a ‘genetic sonogram’ in screening of fetal Down syndrome
38. Second trimester prenatal ultrasound and screening for Down syndrome
39. Three-stage contingent screening for Down syndrome
40. CT ratios: parameter estimates are inconsistent with SURUSS publications?
41. A matter of opinion of evidence!
42. Sequential Down Syndrome Screening: The Importance of First and Second Trimester Test Correlations when Calculating Risk
43. Variation of Fetal Nasal Bone Length in Second-Trimester Fetuses According to Race and Ethnicity
44. Early growth response gene 1 (EGR1) is deleted in estrogen receptor-negative human breast carcinoma
45. Practical strategies in contingent sequential screening for Down syndrome
46. Which contingent sequential screening protocol?: A response
47. Correlation of Second-Trimester Sonographic and Biochemical Markers
48. Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening
49. Combined Sonographic and Biochemical Markers for Down Syndrome Screening
50. Singleton versus duplicate assays in maternal serum screening
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