Zobrazeno 1 - 10
of 212
pro vyhledávání: '"L S, Chitty"'
Publikováno v:
Advances in clinical chemistry. 76
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ff85158285805325af711959981d415
https://pubmed.ncbi.nlm.nih.gov/27645814
https://pubmed.ncbi.nlm.nih.gov/27645814
Autor:
Luo, Caiqun1,2 (AUTHOR), Wen, Erya3 (AUTHOR), Liu, Yang4 (AUTHOR), Wang, Hui2 (AUTHOR), Jia, Bei1 (AUTHOR), Chen, Liyuan2 (AUTHOR), Wu, Xiaoxia2 (AUTHOR), Geng, Qian4 (AUTHOR), Wen, Huaxuan5 (AUTHOR), Li, Shengli5 (AUTHOR), Liu, Bingguang6 (AUTHOR), Wu, Weiqing4 (AUTHOR), Zhong, Mei1 (AUTHOR) zhongmei@smu.edu.cn
Publikováno v:
Molecular Genetics & Genomic Medicine. Oct2024, Vol. 12 Issue 10, p1-15. 15p.
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 48(1)
To evaluate the diagnostic yield of postmortem magnetic resonance imaging (PM-MRI) compared with conventional autopsy in fetuses of early gestational age and low body weight.Fetuses of 31 weeks' gestation that underwent 1.5-T PM-MRI and conventional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5b56320fdf9b694a6658ef01bb45f1e2
https://pubmed.ncbi.nlm.nih.gov/26183321
https://pubmed.ncbi.nlm.nih.gov/26183321
Autor:
Rajala K; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland., Toiviainen-Salo S; Department of Pediatric Radiology HUS Medical Imaging Center, Radiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Faculty of Medicine, Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Mäkitie O; Faculty of Medicine, Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland., Stefanovic V; Department of Obstetrics and Gynecology, Fetomaternal Medical Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Tanner L; Department of Obstetrics and Gynecology, Fetomaternal Medical Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; HUSLAB Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Dec 15. Date of Electronic Publication: 2024 Dec 15.
Autor:
Luong TLA; Hanoi Medical University, Hanoi, Vietnam.; Hanoi Medical University Hospital, Hanoi, Vietnam., Nguyen DA; Hanoi Medical University, Hanoi, Vietnam.; National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam.; Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam., Dao TT; Hanoi Medical University, Hanoi, Vietnam.; Hanoi Medical University Hospital, Hanoi, Vietnam., Nguyen CC; Hanoi Medical University, Hanoi, Vietnam.; Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam., Nguyen ST; Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam., Dinh LT; Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam., Tang XH; Nghe An Obstetrics and Pediatrics Hospital, Hanoi, Vietnam., Tang HS; Medical Genetics Institute, Ho Chi Minh, Vietnam., Nguyen HN; Medical Genetics Institute, Ho Chi Minh, Vietnam.; University of Medicine and Pharmacy at HCMC, Ho Chi Minh, Vietnam., Giang H; Medical Genetics Institute, Ho Chi Minh, Vietnam.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Dec 11. Date of Electronic Publication: 2024 Dec 11.
Autor:
Duyzend M; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Sud M; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., D'Gama AM; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Poorvu T; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Estroff J; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Wojcik MH; Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Dec 05. Date of Electronic Publication: 2024 Dec 05.
Autor:
Arduç A; Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Dijk SJB; Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ten Cate FJ; Department of Plastic, Reconstructive and Hand Surgery, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Doesburg MHM; Department of Plastic, Reconstructive and Hand Surgery, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Linskens IH; Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Leeuwen E; Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Maarle MC; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Pajkrt E; Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov 29. Date of Electronic Publication: 2024 Nov 29.
Autor:
Chandler NJ; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Scotchman E; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., McKay F; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ramachandran V; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov 25. Date of Electronic Publication: 2024 Nov 25.
Autor:
Cogan G; Département de génétique médicale, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France., Troadec MB; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; CHRU Brest, service de génétique, laboratoire de génétique chromosomique, Brest, France., Devillard F; Service de génétique génomique et procréation, Hôpital Couple-Enfant, CHU Grenoble, Grenoble, France., Saint-Frison MH; Département de génétique - UF de fœtopathologie, CHU Robert Debré, Paris, France., Geneviève D; Université Montpellier, Inserm U1183, centre de référence anomalies du développement et syndromes malformatifs, Service de génétique clinique, CHU Montpellier, Montpellier, France., Vialard F; Service de Biologie Médicale, Centre Hospitalier de Poissy-Saint Germain, Poissy, France., Rial-Sebbag E; CERPOP, Inserm, Toulouse Paul Sabatier University, Toulouse, France., Héron D; Département de génétique médicale, AP-HP Sorbonne Université, UF de génétique clinique, Hôpital Pitié-Salpêtrière, Paris, France., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France., Benachi A; AP-HP, Université Paris-Saclay, Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, Clamart, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Université Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen, France.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov 12. Date of Electronic Publication: 2024 Nov 12.
Autor:
Li K; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China., Wang H; Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Shenzhen, China., Chau MHK; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China., Dong Z; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China., Cao Y; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China., Zheng Y; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China., Leung TY; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China., Choy KW; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China., Zhu Y; Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Shenzhen, China.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov; Vol. 44 (12), pp. 1451-1461. Date of Electronic Publication: 2024 Oct 03.