المؤلفون: Soster, Erica^{Aff1, IDs13039024006771_cor1}, Mossfield, Tamara, Menezes, Melody, Agenbag, Gloudi, Dubois, Marie-Line, Gekas, Jean, Hardy, Tristan^{Aff7, Aff8}, Loggenberg, Kelly

المصدر: Molecular Cytogenetics. 17(1)

المؤلفون: Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, on behalf of the Global Expanded NIPT Consortium

المصدر: Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Noninvasive prenatal testing, Chromosome 20, Trisomy, Rare autosomal aneuploidy, Pregnancy outcome, Mosaicism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/634db5f3cfe74ed4a291f924099049a6

المؤلفون: Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He, Jian Lu

المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Rare autosomal aneuploidy, Chromosomal microarray analysis, Chromosomal mosaicism, Prenatal diagnosis, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/1ec5aa7e037445e9bbaa200b3844e038

المؤلفون: Hu, Rong^{Aff1, Aff2}, Huang, Weiwei^{Aff1, Aff2}, Zhou, Weining^{Aff1, Aff2}, Luo, Xiaohui^{Aff1, Aff2}, Ren, Congmian^{Aff1, Aff2}, Huang, Huajie^{Aff1, Aff2}, Hou, Yaping^{Aff1, Aff2}, Guo, Li^{Aff1, Aff2}, He, Wei^{Aff1, Aff2}, Lu, Jian^{Aff1, Aff2, IDs40246022004384_cor10}

المصدر: Human Genomics. 16(1)

المؤلفون: Tamara Mossfield, Erica Soster, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Monika Jurkowska, Pascale Kleinfinger, Kelly Loggenberg, Pablo Marchili, Roberto Sirica, on behalf of the Global Expanded NIPT Consortium

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: noninvasive prenatal testing, rare autosomal aneuploidy, pregnancy outcome, mosaicism, genetic counseling, genome-wide, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.975987/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/563126c106e74772acf05d567fbd0f6f

المؤلفون: Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Véronique Debarge, Vanina Castaigne, Marie-Victoire Senat, Marie-Pierre Brechard, Lucie Guilbaud, Gwenaël Le Guyader, Véronique Satre, Hélène Laurichesse Delmas, Hakima Lallaoui, Marie-Christine Manca-Pellissier, Aicha Boughalem, Mylene Valduga, Farah Hodeib, Alexandra Benachi, Jean Marc Costa

المصدر: Journal of Clinical Medicine, Vol 9, Iss 8, p 2466 (2020)

مصطلحات موضوعية: non-invasive prenatal test, genome-wide screening strategy, atypical chromosomal anomalies, rare autosomal aneuploidy, structural unbalanced anomalies, deletion, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/9/8/2466; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/b5f35dddacca4ab0af649b5b2f2d5d06

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Marie-Victoire Senat, Lucie Guilbaud, Farah Hodeib, Aïcha Boughalem, Jean Marc Costa, Pascale Kleinfinger, Alexandra Benachi, Armelle Luscan, Marie-Christine Manca-Pellissier, Hakima Lallaoui, Laurent Bidat, V. Debarge, Gwenaël Le Guyader, Hélène Laurichesse Delmas, Véronique Satre, Vanina Castaigne, Laurence Lohmann, Detlef Trost, Mylène Valduga, Marie-Pierre Brechard

المساهمون: Laboratoire CERBA [Saint Ouen l'Aumône], Centre Hospitalier René Dubos [Pontoise], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Intercommunal de Créteil (CHIC), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Saint-Joseph [Marseille], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Universitaire [Grenoble] (CHU), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Clermont-Ferrand, Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gestionnaire, Hal Sorbonne Université

المصدر: Journal of Clinical Medicine
Volume 9
Issue 8
Journal of Clinical Medicine, MDPI, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, Vol 9, Iss 2466, p 2466 (2020)

مصطلحات موضوعية: medicine.medical_specialty, VeriSeq NIPT Solution v2, atypical chromosomal anomalies, lcsh:Medicine, specificity, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Medicine, non-invasive prenatal test, Two sample, deletion, 0303 health sciences, Fetus, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, structural unbalanced anomalies, lcsh:R, 030305 genetics & heredity, Non invasive, genome-wide screening strategy, General Medicine, Limiting, rare autosomal aneuploidy, sensitivity, 3. Good health, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Increased risk, duplication, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, positive predictive value, business, Serum screening

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f941a9fe27852c628d21cd863d2c614

المؤلفون: Na Wang, Man Zhang, Maosheng Gu, Yan Zhang, Feng Suo, Tianya Liu, Yifan Wang, Shunan Hu, Qin Wu, Yuan Fang, Wang Yi, Lingshan Gou

المصدر: The Journal of International Medical Research
Journal of International Medical Research, Vol 48 (2020)

مصطلحات موضوعية: 0301 basic medicine, Medicine (General), China, medicine.medical_specialty, Rare autosomal aneuploidy, uniparental disomy, Chromosome Disorders, 030105 genetics & heredity, Single Center, Biochemistry, 03 medical and health sciences, R5-920, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, non-invasive prenatal test, Retrospective Studies, trisomy, pregnancy outcome, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Biochemistry (medical), Cell Biology, General Medicine, Aneuploidy, medicine.disease, Uniparental disomy, chromosomal microarray analysis, Female, business, Trisomy, Retrospective Clinical Research Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f454b89d49c11a9ee73ce21c73a10f9e
https://doi.org/10.1177/0300060520966877

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.