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1. Full Text A new decade, fond farewells and a new era for Prenatal Diagnosis
by Chitty, Lyn S
Prenatal diagnosis, ISSN 0197-3851, 01/2021, Volume 41, Issue 1, pp. 3 - 4
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Prenatal diagnosis | Index Medicus
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2. Full Text Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies
by Chitty, Lyn S
Prenatal diagnosis, ISSN 0197-3851, 08/2019, Volume 39, Issue 9, pp. 663 - 665
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Ultrasound | Diagnostic systems | Index Medicus
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3. Full Text Advances in the prenatal diagnosis of monogenic disorders
by Chitty, Lyn S
Prenatal diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 3 - 5
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy | Female | Maternal Serum Screening Tests | Genetic Diseases, Inborn - diagnosis | Humans | Whole Exome Sequencing | Pregnant women | Medical diagnosis | Prenatal diagnosis | Index Medicus
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4. Full Text Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities
by Lo, Kitty K and Karampetsou, Evangelia and Boustred, Christopher and McKay, Fiona and Mason, Sarah and Hill, Melissa and Plagnol, Vincent and Chitty, Lyn S
American journal of human genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 34 - 44
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy | Prenatal Diagnosis - standards | Humans | Chromosome Aberrations | Aneuploidy | Female | High-Throughput Nucleotide Sequencing | Genetic Testing - methods | Physiological aspects | Chromosome abnormalities | Nucleotide sequencing | Methods | DNA sequencing | Plasma | Chromosomes | Fetuses | Prenatal care | Index Medicus
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5. Full Text A sonographic approach to the prenatal diagnosis of skeletal dysplasias
by Pajkrt, Eva and Chitty, Lyn S
Prenatal diagnosis, ISSN 0197-3851, 2019, Volume 39, Issue 9, pp. 701 - 709
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Sequences | Prenatal diagnosis | Abnormalities | Phenotyping | Prenatal development | Diagnosis | Ultrasound | Index Medicus
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6. Full Text Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing
by Hayward, Jane and Chitty, Lyn S
Seminars in fetal & neonatal medicine, ISSN 1744-165X, 04/2018, Volume 23, Issue 2, pp. 94 - 101
Single gene disorders | Prenatal diagnosis | Exome sequencing | Cell-free fetal DNA | Monogenic disorders | Fetal abnormalities | Non-invasive prenatal diagnosis | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Genetic Diseases, Inborn - embryology | Humans | Genetic Diseases, Inborn - genetics | Male | Genetic Testing - methods | Whole Exome Sequencing - trends | Prenatal Diagnosis - trends | DNA - blood | Pregnancy | DNA - chemistry | DNA Mutational Analysis - trends | Genetic Counseling - trends | Female | Genetic Testing - trends | Mutation | Prenatal Diagnosis - methods | Genetic Diseases, Inborn - diagnosis | High-Throughput Nucleotide Sequencing - trends | Pharmacogenetics | Pregnant women | Analysis | Genes | Medical genetics | Index Medicus
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7. Full Text Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
by Harding, Brian N and Moccia, Amanda and Drunat, Séverine and Soukarieh, Omar and Tubeuf, Hélène and Chitty, Lyn S and Verloes, Alain and Gressens, Pierre and El Ghouzzi, Vincent and Joriot, Sylvie and Di Cunto, Ferdinando and Martins, Alexandra and Passemard, Sandrine and Bielas, Stephanie L
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 511 - 520
lissencephaly | citron kinase | cytokinesis | neurogenesis | primary microcephaly | splicing mutation | autosomal recessive | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neocortex - pathology | Neurons - pathology | Microcephaly - genetics | Genes, Recessive - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Infant | Male | Cerebellum - pathology | Microcephaly - pathology | RNA Splicing - genetics | Female | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Genetic aspects | Neural circuitry | Gene mutations | Microcephaly | Phosphotransferases | Health aspects | Proteins | Cell division | Mutation | Kinases | Neurons | Medical disorders | Index Medicus | Life Sciences | Neurons and Cognition | Neurobiology | Genetics | Development Biology | Subcellular Processes | Cellular Biology | Embryology and Organogenesis | Human genetics | Report
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8. Full Text Use of Cell-free DNA to Screen for Down's Syndrome
by Chitty, Lyn S
The New England journal of medicine, ISSN 0028-4793, 04/2015, Volume 372, Issue 17, pp. 1666 - 1667
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Pregnancy | Female | Down Syndrome - diagnosis | Prenatal Diagnosis - methods | DNA - analysis | Humans | Plasma | Trisomy | Prenatal diagnosis | Down's syndrome | Fetuses | Biomarkers | Genetic testing | Down syndrome | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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9. Full Text Non-invasive prenatal diagnosis: progress and potential
by Daley, Rebecca and Hill, Melissa and Chitty, Lyn S
Archives of disease in childhood. Fetal and neonatal edition, ISSN 1359-2998, 09/2014, Volume 99, Issue 5, pp. F426 - F430
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Delivery. Postpartum. Lactation | Medical sciences | Maternal, fetal and perinatal monitoring | Sex Determination Analysis - methods | Fetal Diseases - diagnosis | Humans | Genetic Testing - methods | Prenatal Diagnosis - trends | DNA - blood | DNA - genetics | Fetal Diseases - genetics | Pregnancy | Cell-Free System | Female | Prenatal Diagnosis - methods | Genetic Diseases, Inborn - diagnosis | Reports | Forecasts and trends | Prenatal diagnosis | DNA testing | Methods | Index Medicus | Abridged Index Medicus
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10. Full Text Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study
by Thayyil, Sudhin, Dr and Sebire, Neil J, Prof and Chitty, Lyn S, Prof and Wade, Angie, PhD and Chong, WK, MD and Olsen, Oystein, FRCR and Gunny, Roxana S, FRCR and Offiah, Amaka C, PhD and Owens, Catherine M, FRCR and Saunders, Dawn E, FRCR and Scott, Rosemary J, FRCPath and Jones, Rod, MSc and Norman, Wendy, DCR and Addison, Shea, BSc and Bainbridge, Alan, PhD and Cady, Ernest B, FInstP and Vita, Enrico De, PhD and Robertson, Nicola J, PhD and Taylor, Andrew M, Prof and for the MARIAS collaborative group and MARIAS Collaborative Grp and MARIAS collaborative group
The Lancet (British edition), ISSN 0140-6736, 2013, Volume 382, Issue 9888, pp. 223 - 233
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Prospective Studies | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Whole Body Imaging - standards | Autopsy - methods | Fetal Death - pathology | Cause of Death | Magnetic Resonance Imaging - standards | Sensitivity and Specificity | Adolescent | Autopsy - standards | Whole Body Imaging - methods | Child | Fetus | Medical examination | Magnetic resonance imaging | Autopsy | Methods | Accuracy | Autopsies | Consent | Dissection | Index Medicus | Abridged Index Medicus
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11. Full Text Promises, pitfalls and practicalities of prenatal whole exome sequencing
by Best, Sunayna and Wou, Karen and Vora, Neeta and Van der Veyver, Ignatia B and Wapner, Ronald and Chitty, Lyn S
Prenatal diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 10 - 19
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Decision-making | Pregnant women | Genomics | Genomes | Nucleotide sequencing | Chromosomes | DNA sequencing | Pregnancy | Ethics | Decision making | Fetuses | Phenotyping | Diagnostic systems | Diagnosis | Genetic screening | Gene sequencing | Index Medicus
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