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Tytuł:
Prenatal diagnosis and treatment for fetal angiotensin converting enzyme deficiency.
Autorzy:
Tan HJ; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.; Centers of System Biology, Data Information and Reproductive Health, School of Basic Medical Science, Central South University, Changsha, Hunan, China.
Jian WY; Department of Gynaecology and Obstetrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lv C; Department of Reproductive Medicine Center, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Guo DW; Department of Gynaecology and Obstetrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Liao ZC; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xu H; Department of Nephrology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiao Y; Department of Endocrinology, Endocrinology Research Center, Xiangya Hospital of Central South University, Changsha, Hunan, China.
Schiller M; Nevada Institute of Personalized Medicine, University of Nevada Las Vegas, Las Vegas, Nevada, USA.
Zhuo JL; Department of Physiology, Tulane Hypertension and Renal Center of Excellence, Tulane University, New Orleans, Louisiana, USA.
Yue SJ; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yao RJ; Department of Gynaecology and Obstetrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Deng HW; Deming Department of Medicine, Center of Biomedical Informatics and Genomics, Tulane University School of Medicine, New Orleans, Louisiana, USA.
Xiao HM; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.; Centers of System Biology, Data Information and Reproductive Health, School of Basic Medical Science, Central South University, Changsha, Hunan, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 25. Date of Electronic Publication: 2023 Sep 25.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Maternal serological screening for cytomegalovirus infection may play an important role nowadays.
Autorzy:
Aldè M; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; Audiology Unit, Department of Specialist Surgical Sciences, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ambrosetti U; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 15. Date of Electronic Publication: 2023 Sep 15.
Typ publikacji:
Letter
Opinia redakcyjna
Szczegóły
Tytuł:
Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies.
Autorzy:
Illi C; Department of Obstetrics of Charité University Hospital, Berlin, Germany.
Koenigbauer J; Department of Obstetrics of Charité University Hospital, Berlin, Germany.; Prenatal Diagnosis Bergmannstrasse, Berlin, Germany.
Henrich W; Department of Obstetrics of Charité University Hospital, Berlin, Germany.
Fangmann L; Department of Obstetrics of Charité University Hospital, Berlin, Germany.
Reinhardt C; Department of Obstetrics of Charité University Hospital, Berlin, Germany.
Ossmann S; Department of Obstetrics of Charité University Hospital, Berlin, Germany.
Weichert A; Prenatal Diagnosis Bergmannstrasse, Berlin, Germany.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 14. Date of Electronic Publication: 2023 Sep 14.
Typ publikacji:
Case Reports
Raport
Szczegóły
Tytuł:
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Autorzy:
Harris S; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Putra M; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Aurora, Colorado, USA.
Gilmore KL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Vora NL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 13. Date of Electronic Publication: 2023 Sep 13.
Typ publikacji:
Case Reports
Raport
Szczegóły
Tytuł:
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Autorzy:
Yang Y; Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.
Zhang W; Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.
Wang H; Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 13. Date of Electronic Publication: 2023 Sep 13.
Typ publikacji:
Case Reports
Raport
Szczegóły
Tytuł:
An overview of reproductive carrier screening panels for autosomal recessive and/or X-linked conditions: How much do we know?
Autorzy:
Wang T; Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, Queensland, Australia.; Menzies Health Institute Queensland, Griffith University, Gold Coast, Queensland, Australia.
Scuffham P; Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, Queensland, Australia.; Menzies Health Institute Queensland, Griffith University, Gold Coast, Queensland, Australia.
Byrnes J; Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, Queensland, Australia.; Menzies Health Institute Queensland, Griffith University, Gold Coast, Queensland, Australia.
Delatycki MB; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Parkville, Victoria, Australia.
Downes M; Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, Queensland, Australia.; Menzies Health Institute Queensland, Griffith University, Gold Coast, Queensland, Australia.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 12. Date of Electronic Publication: 2023 Sep 12.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Szczegóły
Tytuł:
Biometric magnetic resonance imaging analysis of fetal brain development in down syndrome.
Autorzy:
Kitano R; Obstetrics and Gynecology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Madan N; Radiology, Tufts Medical Center, Boston, Massachusetts, USA.
Mikami T; Department of Neurology, Tufts Medical Center, Boston, Massachusetts, USA.
Madankumar R; Obstetrics and Gynecology, Long Island Jewish Medical Center, New Hyde Park, New York, USA.
Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Santoro S; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Ralston SJ; Obstetrics and Gynecology, The University of Maryland, Baltimore, Maryland, USA.
Bianchi DW; Section on Prenatal Genomics and Fetal Therapy, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Tarui T; Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.; Pediatric Neurology, Hasbro Children's Hospital, Providence, Rhode Island, USA.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 12. Date of Electronic Publication: 2023 Sep 12.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype.
Autorzy:
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Medical Research Group, Illumina, Cambridge, UK.
Castleman J; Fetal Medicine Centre, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
Allen S; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK.
Doyle S; Perinatal Genomics Service, The National Maternity Hospital, Dublin, Ireland.
Williams DK; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 12. Date of Electronic Publication: 2023 Sep 12.
Typ publikacji:
Case Reports
Raport
Szczegóły
Tytuł:
Obstetrical outcomes following amniocentesis performed after 24 weeks of gestation: A systematic review and meta-analysis.
Autorzy:
Nassr AA; Department of Obstetrics & Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Hessami K; Department of Obstetrics & Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Maternal Fetal Care Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
D'Alberti E; Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Giancotti A; Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Meshinchiasl N; Department of Obstetrics & Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Evans MI; Comprehensive Genetics, PLLC, New York, New York, USA.; Department of Obstetrics & Gynecology, Icahn School of Medicine at Mt. Sinai, New York, New York, USA.
Di Mascio D; Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Shamshirsaz AA; Maternal Fetal Care Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 08. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Szczegóły
Tytuł:
Outcomes of fetal reduction versus expectant management in dichorionic triamniotic triplets.
Autorzy:
Meng X; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Huang J; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Yuan P; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Wang X; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Shi X; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Zhao Y; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Wei Y; Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 06. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Cx43 regulates mechanotransduction mechanisms in human preterm amniotic membrane defects.
Autorzy:
Costa E; Centre for Bioengineering, School of Engineering and Materials Science, Queen Mary University of London, London, UK.
Thrasivoulou C; Department of Cell and Developmental Biology, University College London, London, UK.
Becker DL; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Deprest JA; Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.; Elizabeth Garrett Anderson Institute for Women's Health, University College London, Medical School Building, London, UK.
David AL; Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.; Elizabeth Garrett Anderson Institute for Women's Health, University College London, Medical School Building, London, UK.
Chowdhury TT; Centre for Bioengineering, School of Engineering and Materials Science, Queen Mary University of London, London, UK.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1284-1295. Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:
Journal Article
MeSH Terms:
Amnion*
Fetal Membranes, Premature Rupture*
Pregnancy ; Infant, Newborn ; Humans ; Female ; Connexin 43 ; Cesarean Section ; Mechanotransduction, Cellular
Czasopismo naukowe
Szczegóły
Tytuł:
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Autorzy:
Hourvitz N; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Mory A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Haratz KK; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Kidron D; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Malinger G; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Yaron Y; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1374-1377. Date of Electronic Publication: 2023 Aug 28.
Typ publikacji:
Case Reports
MeSH Terms:
Hydrocephalus*/genetics
Transcription Factors*/genetics
Female ; Humans ; Pregnancy ; Genetic Counseling ; Heterozygote ; Penetrance
SCR Disease Name:
Hydrocephalus, Autosomal Dominant
Raport
Szczegóły
Tytuł:
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Autorzy:
Wynn J; BillionToOne, Inc, Menlo Park, California, USA.
Hoskovec J; BillionToOne, Inc, Menlo Park, California, USA.
Carter RD; BillionToOne, Inc, Menlo Park, California, USA.
Ross MJ; BillionToOne, Inc, Menlo Park, California, USA.
Perni SC; Department of Obstetrics and Gynecology, Bon Secours Mercy Health, Mercy St. Vincent Medical Center, Toledo, Ohio, USA.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1344-1354. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article
MeSH Terms:
Noninvasive Prenatal Testing*
Cystic Fibrosis*
Hemoglobinopathies*
Infant, Newborn ; Female ; Humans ; Pregnancy ; Fetus ; Inheritance Patterns
Czasopismo naukowe
Szczegóły
Tytuł:
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia.
Autorzy:
Beck V; Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospital Gasthuisberg, Leuven, Belgium.; Center for Surgical Technologies, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium.
Froyen G; Laboratory for Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.
Deckx S; Center for Surgical Technologies, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium.
Sandaite I; Division of Medical Imaging, University Hospital Gasthuisberg, Leuven, Belgium.
Deprest T; Center for Surgical Technologies, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium.
Plevoets K; Faculty of Sciences, Department of Applied Mathematics, Computer Science and Statistics, Universiteit Gent, Ghent, Belgium.
Deprest JA; Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospital Gasthuisberg, Leuven, Belgium.; Center for Surgical Technologies, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1274-1283. Date of Electronic Publication: 2023 Sep 02.
Typ publikacji:
Journal Article
MeSH Terms:
Hernias, Diaphragmatic, Congenital*
Airway Obstruction*
Female ; Pregnancy ; Animals ; Rats ; Phenyl Ethers/toxicity ; Lung ; Cell Proliferation
Czasopismo naukowe
Szczegóły
Tytuł:
Correction to Laser therapy versus expectant management for selective fetal growth restriction in monochorionic twins: A systematic review.
Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1378. Date of Electronic Publication: 2023 Sep 05.
Typ publikacji:
Published Erratum
Szczegóły
Tytuł:
Droplet digital PCR is a cost-effective method for analyzing long cell-free DNA in maternal plasma: Application in preeclampsia.
Autorzy:
Gai W; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Yu SCY; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Chan WTC; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Peng W; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Lau SL; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Jiang P; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Chan KCA; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
Lo YMD; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep 01. Date of Electronic Publication: 2023 Sep 01.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Non-invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an "in-house" target enrichment next generation sequencing-Solution for non-centralized NIPT laboratory?
Autorzy:
Faldynová L; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Walczysková S; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Černá D; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Kudrejová M; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Hilscherová Š; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Kaniová R; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Širůčková S; Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1320-1332. Date of Electronic Publication: 2023 Aug 21.
Typ publikacji:
Journal Article
MeSH Terms:
Laboratories*
Cell-Free Nucleic Acids*
Pregnancy ; Humans ; Female ; High-Throughput Nucleotide Sequencing ; DNA Copy Number Variations ; Chromosomes, Human, Pair 21
Czasopismo naukowe
Szczegóły
Tytuł:
What helps define outcomes in persistent uninterpretable non-invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
Autorzy:
Lannoo L; Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.
Van Camp J; Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.
Brison N; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Parijs I; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Vancoillie L; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Vermeesch JR; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Van Calsteren K; Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1333-1343. Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:
Journal Article
MeSH Terms:
Premature Birth*/diagnosis
Premature Birth*/epidemiology
Infant, Newborn ; Humans ; Female ; Pregnancy ; Retrospective Studies ; Prenatal Care ; Fetus ; Family
Czasopismo naukowe
Szczegóły
Tytuł:
A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.
Autorzy:
Pu L; Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.
Dai X; Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.
Liu D; Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.
Wang Y; Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.
Liu H; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.; Department of Pediatric Pulmonology and Immunology, West China Second University Hospital of Sichuan University, Chengdu, China.; The Joint Laboratory for Lung Development and Related Diseases, West China Institute of Women and Children's Health, West China Second University Hospital of Sichuan University, Chengdu, China.; Sichuan Birth Defects Clinical Research Center, West China Second University Hospital of Sichuan University, Chengdu, China.
He X; Ziyang Maternal and Child Health Care Hospital, Ziyang, China.; Ziyang Women and Children Hospital, West China Second University Hospital of Sichuan University, Ziyang, China.
Chen J; Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, China.; Ziyang Maternal and Child Health Care Hospital, Ziyang, China.; Ziyang Women and Children Hospital, West China Second University Hospital of Sichuan University, Ziyang, China.; Tibet Autonomous Region Women's and Children's Hospital, West China Second University Hospital of Sichuan University, Lhasa, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1370-1373. Date of Electronic Publication: 2023 Aug 16.
Typ publikacji:
Case Reports
MeSH Terms:
Cleft Palate*
Clubfoot*/diagnostic imaging
Clubfoot*/genetics
Female ; Pregnancy ; Humans ; East Asian People ; Fetus ; Chromosome Aberrations ; Ion Channels/genetics
SCR Disease Name:
Gordon syndrome
Raport
Szczegóły
Tytuł:
Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review.
Autorzy:
Weller K; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Edel GG; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Steegers EAP; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Reiss IKM; Department of Neonatal and Pediatric Intensive Care, Division of Neonatology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
DeKoninck PLJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Rottier RJ; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Eggink AJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Peters NCJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Sep; Vol. 43 (10), pp. 1296-1309. Date of Electronic Publication: 2023 Aug 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Hernias, Diaphragmatic, Congenital*/diagnostic imaging
Pregnancy ; Female ; Humans ; Ultrasonography, Prenatal/methods ; Lung ; Pulmonary Artery/diagnostic imaging ; Fetus
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 6390

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