IGNATIA VAN DEN VEYVER to Humans
This is a "connection" page, showing publications IGNATIA VAN DEN VEYVER has written about Humans.
Connection Strength
1.030
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Whole-Genome Amplification on Single Circulating Trophoblast Cell. Methods Mol Biol. 2026; 3003:11-23.
Score: 0.025
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Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature. Prenat Diagn. 2025 11; 45(12):1544-1558.
Score: 0.025
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Prenatal Genetic Consultation and Testing. Clin Obstet Gynecol. 2025 Sep 01; 68(3):425-431.
Score: 0.024
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Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss. Prenat Diagn. 2025 09; 45(10):1343-1350.
Score: 0.024
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Impact of prenatal genomics on clinical genetics practice. Best Pract Res Clin Obstet Gynaecol. 2024 Dec; 97:102545.
Score: 0.023
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Amniocentesis in pregnancies at or beyond 24?weeks: an international multicenter study. Am J Obstet Gynecol. 2025 Apr; 232(4):402.e1-402.e16.
Score: 0.023
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Comparison of Four Protocols for In Vitro Differentiation of Human Embryonic Stem Cells into Trophoblast Lineages by BMP4 and Dual Inhibition of Activin/Nodal and FGF2 Signaling. Reprod Sci. 2024 01; 31(1):173-189.
Score: 0.022
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Cell-based Noninvasive Prenatal Testing (cbNIPT)-A Review on the Current Developments and Future Prospects. Clin Obstet Gynecol. 2023 09 01; 66(3):636-648.
Score: 0.021
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Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants. Prenat Diagn. 2023 02; 43(2):192-206.
Score: 0.021
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Take your mother's ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport. J Clin Invest. 2023 01 17; 133(2).
Score: 0.021
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Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis. Prenat Diagn. 2022 11; 42(12):1479-1480.
Score: 0.020
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International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients. Prenat Diagn. 2023 04; 43(4):428-434.
Score: 0.020
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Lower fetal fraction in clinical cell-free DNA screening results is associated with increased risk of hypertensive disorders of pregnancy. Prenat Diagn. 2022 09; 42(10):1253-1261.
Score: 0.020
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Circulating trophoblast numbers as a potential marker for pregnancy complications. Prenat Diagn. 2022 08; 42(9):1182-1189.
Score: 0.020
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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn. 2022 05; 42(6):796-803.
Score: 0.020
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Prenatal exomes and genomes - so much new and so much more to learn. Prenat Diagn. 2022 05; 42(6):659-661.
Score: 0.020
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DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. Genes (Basel). 2021 08 06; 12(8).
Score: 0.019
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Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 2021 06; 41(7):795-797.
Score: 0.019
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Overview and recent developments in cell-based noninvasive prenatal testing. Prenat Diagn. 2021 Sep; 41(10):1202-1214.
Score: 0.018
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Prenatal testing in pregnancies conceived by in vitro fertilization with pre-implantation genetic testing. Prenat Diagn. 2020 06; 40(7):846-851.
Score: 0.017
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Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing. Prenat Diagn. 2020 12; 40(12):1508-1514.
Score: 0.017
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The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet. 2020 Sep; 139(9):1121-1130.
Score: 0.017
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Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review. Prenat Diagn. 2019 08; 39(9):666-678.
Score: 0.016
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The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling. Prenat Diagn. 2019 03; 39(4):319-323.
Score: 0.016
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Exome and genome sequencing in reproductive medicine. Fertil Steril. 2018 02; 109(2):213-220.
Score: 0.015
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Missed opportunities: unidentified genetic risk factors in prenatal care. Prenat Diagn. 2018 01; 38(1):75-79.
Score: 0.014
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Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 Oct; 35(10):1022-9.
Score: 0.012
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
Score: 0.012
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Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenat Diagn. 2014 Oct; 34(10):921-6.
Score: 0.012
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Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7.
Score: 0.012
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Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? Prenat Diagn. 2014 Jan; 34(1):12-7.
Score: 0.011
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No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. Prenat Diagn. 2013 Dec; 33(13):1242-7.
Score: 0.011
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NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation. Hum Mol Genet. 2014 Feb 01; 23(3):706-16.
Score: 0.011
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New technologies for the assessment of chromosomes in prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):307-8.
Score: 0.010
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.010
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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012; 7(3):e32331.
Score: 0.010
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Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011 Jul; 11(6):579-92.
Score: 0.009
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Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84.
Score: 0.009
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Applications of array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin North Am. 2010 Mar; 37(1):71-85, Table of Contents.
Score: 0.008
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A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21.
Score: 0.008
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.008
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Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6.
Score: 0.008
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A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan; 14(1):33-40.
Score: 0.007
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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8.
Score: 0.007
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.007
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Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients. BMC Med Genet. 2006 Jul 21; 7:61.
Score: 0.007
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Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies?. Biol Reprod. 2026 04 13; 114(4):1469-1485.
Score: 0.006
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Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol. 2006 Apr; 18(2):185-91.
Score: 0.006
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Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring. Hum Reprod Update. 2006 May-Jun; 12(3):233-42.
Score: 0.006
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The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies. Prenat Diagn. 2026 05; 46(5-6):727-736.
Score: 0.006
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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach. Eur J Paediatr Neurol. 2026 Jan; 60:58-70.
Score: 0.006
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Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.
Score: 0.006
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Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol. 2005 Sep; 20(9):779-83.
Score: 0.006
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Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus. Calcif Tissue Int. 2005 Jul; 77(1):23-9.
Score: 0.006
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Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis. J Soc Gynecol Investig. 2005 Jul; 12(5):376-83.
Score: 0.006
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Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth. Prenat Diagn. 2025 09; 45(10):1313-1324.
Score: 0.006
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15.
Score: 0.006
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Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141.
Score: 0.006
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Presence of filamin in the astrocytic inclusions of Aicardi syndrome. Pediatr Neurol. 2004 Jan; 30(1):7-15.
Score: 0.006
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Recurrent pregnancy loss due to familial and non-familial habitual molar pregnancy. Int J Gynaecol Obstet. 2003 Nov; 83(2):179-86.
Score: 0.005
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Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect. Ultrasound Obstet Gynecol. 2023 06; 61(6):719-727.
Score: 0.005
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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
Score: 0.005
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Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 01; 11(25):3237-48.
Score: 0.005
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Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenat Diagn. 2022 12; 42(13):1686-1693.
Score: 0.005
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Mendelian gene identification through mouse embryo viability screening. Genome Med. 2022 10 13; 14(1):119.
Score: 0.005
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Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis. J Genet Couns. 2022 12; 31(6):1330-1340.
Score: 0.005
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Polygenic embryo screening: four clinical considerations warrant further attention. Hum Reprod. 2022 06 30; 37(7):1375-1378.
Score: 0.005
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Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenat Diagn. 2022 06; 42(7):947-954.
Score: 0.005
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Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022 06; 42(7):811-821.
Score: 0.005
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Genetic effects of methylation diets. Annu Rev Nutr. 2002; 22:255-82.
Score: 0.005
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Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6.
Score: 0.005
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Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res. 2002; 99(1-4):289-96.
Score: 0.005
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.005
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The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3) is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies. J Soc Gynecol Investig. 2001 Sep-Oct; 8(5):305-13.
Score: 0.005
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Skewed X inactivation in X-linked disorders. Semin Reprod Med. 2001 Jun; 19(2):183-91.
Score: 0.005
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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT. PLoS One. 2021; 16(4):e0249695.
Score: 0.005
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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000 Sep 11; 94(2):102-12.
Score: 0.004
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The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing. Prenat Diagn. 2020 10; 40(11):1383-1389.
Score: 0.004
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Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
Score: 0.004
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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. Am J Hum Genet. 2019 12 05; 105(6):1262-1273.
Score: 0.004
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.004
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.004
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Discordance between fetal RhD typing using molecular methods and neonatal typing with serology. Gynecol Obstet Invest. 1999; 48(4):229-31.
Score: 0.004
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Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018 12; 38(13):1069-1078.
Score: 0.004
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Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet. 2018 11 01; 103(5):740-751.
Score: 0.004
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.004
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Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenat Diagn. 2018 10; 38(11):858-865.
Score: 0.004
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Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61.
Score: 0.004
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Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):179-81.
Score: 0.004
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Applied molecular genetic techniques for prenatal diagnosis. Curr Opin Obstet Gynecol. 1998 Apr; 10(2):97-103.
Score: 0.004
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Detection of intrauterine viral infection using the polymerase chain reaction. Mol Genet Metab. 1998 Feb; 63(2):85-95.
Score: 0.004
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6.
Score: 0.004
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Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018 01; 38(1):10-19.
Score: 0.004
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Fetal RhD typing by polymerase chain reaction in pregnancies complicated by rhesus alloimmunization. Obstet Gynecol. 1996 Dec; 88(6):1061-7.
Score: 0.003
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Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies? J Ultrasound Med. 2017 Jan; 36(1):155-161.
Score: 0.003
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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Dec; 36(12):1127-1134.
Score: 0.003
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Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov; 36(11):1009-1019.
Score: 0.003
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Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30.
Score: 0.003
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Prenatal diagnosis of the RhD fetal blood type on amniotic fluid by polymerase chain reaction. Obstet Gynecol. 1996 Mar; 87(3):419-22.
Score: 0.003
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Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing. Prenat Diagn. 2015 Dec; 35(12):1213-7.
Score: 0.003
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Noninvasive prenatal testing and fetal sonographic screening: roundtable discussion. J Ultrasound Med. 2015 Mar; 34(3):363-9.
Score: 0.003
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Single-cell analysis of the RhD blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn. Am J Obstet Gynecol. 1995 Feb; 172(2 Pt 1):533-40.
Score: 0.003
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A genome-wide screen for copy number alterations in an adolescent pilot cohort with m?llerian anomalies. Fertil Steril. 2015 Feb; 103(2):487-93.
Score: 0.003
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A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780.
Score: 0.003
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No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility. Hum Reprod. 2015 Jan; 30(1):232-8.
Score: 0.003
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Noninvasive prenatal screening by next-generation sequencing. Annu Rev Genomics Hum Genet. 2014; 15:327-47.
Score: 0.003
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Molecular analysis of human platelet antigen system 1 antigen on single cells can be applied to preimplantation genetic diagnosis for prevention of alloimmune thrombocytopenia. Am J Obstet Gynecol. 1994 Mar; 170(3):807-12.
Score: 0.003
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Prenatal diagnosis and clinical findings in a case of hexasomy 12p. Am J Med Genet. 1993 Dec 01; 47(8):1171-4.
Score: 0.003
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The effect of gestational age and fetal indomethacin levels on the incidence of constriction of the fetal ductus arteriosus. Obstet Gynecol. 1993 Oct; 82(4 Pt 1):500-3.
Score: 0.003
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Prostaglandin synthetase inhibitors in pregnancy. Obstet Gynecol Surv. 1993 Jul; 48(7):493-502.
Score: 0.003
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A metagenomic approach to characterization of the vaginal microbiome signature in pregnancy. PLoS One. 2012; 7(6):e36466.
Score: 0.002
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Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41.
Score: 0.002
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Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):315-20.
Score: 0.002
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.002
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Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenat Diagn. 2011 Oct; 31(10):932-44.
Score: 0.002
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Antenatal fetal death in twin pregnancies: a dangerous condition mainly for the surviving co-twin; a report of four cases. Eur J Obstet Gynecol Reprod Biol. 1991 Jan 04; 38(1):69-73.
Score: 0.002
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.
Score: 0.002
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Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul; 152A(7):1825-31.
Score: 0.002
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Aseptic necrosis of the femoral head associated with pregnancy; a case report. Eur J Obstet Gynecol Reprod Biol. 1990 Jul-Aug; 36(1-2):167-73.
Score: 0.002
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Prospective trial on obstructive sleep apnea in pregnancy and fetal heart rate monitoring. Am J Obstet Gynecol. 2010 Jun; 202(6):552.e1-7.
Score: 0.002
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Pheochromocytoma and Von Hippel-Lindau in pregnancy. Am J Perinatol. 2010 Mar; 27(3):257-63.
Score: 0.002
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Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8.
Score: 0.002
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Clinical aspects in the surgical treatment of varicocele in subfertile men. II. The role of the epididymal factor. Eur J Obstet Gynecol Reprod Biol. 1988 Jan; 27(1):43-51.
Score: 0.002
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.
Score: 0.002
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A NotI-EcoRV promoter library for studies of genetic and epigenetic alterations in mouse models of human malignancies. Genomics. 2004 Oct; 84(4):647-60.
Score: 0.001
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The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta. 2003 Sep-Oct; 24(8-9):835-42.
Score: 0.001
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.001
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Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
Score: 0.001
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.001
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Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84.
Score: 0.001
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Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum Mol Genet. 1999 Apr; 8(4):667-71.
Score: 0.001
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Treatment of polyhydramnios with indomethacin. Clin Perinatol. 1994 Sep; 21(3):615-30.
Score: 0.001
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Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification. Nat Genet. 1994 Jan; 6(1):19-23.
Score: 0.001
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Palpable solid breast masses: retrospective single- and multimodality evaluation of 201 lesions. Radiology. 1988 Feb; 166(2):435-9.
Score: 0.000