Results 61 to 70 of about 24,789 (220)

Diagnostic prénatal et diagnostic pré-implantatoire : arbre décisionnel, nouvelles pratiques ? [PDF]

, 2005
Le diagnostic pré-implantatoire (DPI) a pour objectif l’étude des caractéristiques génétiques d’un embryon âgé de trois jours. Il offre ainsi à des couples ayant un risque élevé de transmettre une maladie héréditaire une alternative au diagnostic ...
Feyereisen, Estelle, Frydman, Nelly, Kerbrat, Violaine, Romana, Serge, Steffann, Julie   +4 more
core   +1 more source

SMILE: Extraction‐free submicron‐resolution mapping of lipid chain length and unsaturation by stimulated Raman imaging

VIEW, EarlyView.
In this work, we develop submicron‐resolution mapping of intracellular lipid elements (SMILE) as an extraction‐free vibrational spectroscopic imaging platform based on hyperspectral stimulated Raman scattering microscopy with a spectral analysis pipeline for pixel‐resolved lipid profiling.
Yihui Zhou, Xiangjie Huang, Xingxin Liu, Ling Zhang, Jie Huang, Jing Zhao, Yongqing Zhang, Jin Zhang, Yanqing Gong, Delong Zhang, Hyeon Jeong Lee   +10 more
wiley   +1 more source

A novel variation in DEPDC5 causing familial focal epilepsy with variable foci

Frontiers in Genetics
BackgroundDisheveled, EGL-10, and pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a component of GTPase-activating protein (GAP) activity toward the RAG complex 1 (GATOR1) protein, which is an inhibitor of the amino acid-sensing branch of the ...
Yanchi Wang, Yanchi Wang, Yanchi Wang, Yanchi Wang, Wenbin Niu, Wenbin Niu, Wenbin Niu, Wenbin Niu, Hao Shi, Hao Shi, Hao Shi, Hao Shi, Xiao Bao, Xiao Bao, Xiao Bao, Xiao Bao, Yidong Liu, Yidong Liu, Yidong Liu, Yidong Liu, Manman Lu, Manman Lu, Manman Lu, Manman Lu, Yingpu Sun, Yingpu Sun, Yingpu Sun, Yingpu Sun   +27 more
doaj   +1 more source

Preimplantation genetic testing for aneuploidy in patients of different age: a systematic review and meta-analysis [PDF]

Obstetrics & Gynecology Science
This study aimed to summarize the current knowledge on the benefits of In vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic testing for aneuploidy (PGT-A) and to discuss the role of PGT-A in patients of different ages ...
Leila Adamyan, Laura Pivazyan, Lilia Obosyan, Ekaterina Krylova, Sapiyat Isaeva   +4 more
doaj   +1 more source

Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification [PDF]

, 2009
Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit.
Chow, JFC, Ho, PC, Lam, STS, Lau, EYL, Ng, EHY, Tong, T, Yeung, WSB   +6 more
core   +1 more source

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

Allergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas, Inmaculada Martinez‐Saguer, Konrad Bork, Anastasios E. Germenis, Anete S. Grumach, Hanga Réka Horváth, Andrea Luczay, Andrea Zanichelli, Markus Magerl, Stephen Betschel, Emel Aygören‐Pürsün, Jonathan A. Bernstein, Isabelle Boccon‐Gibod, Teresa Caballero, Mauro Cancian, Sandra Christiansen, Danny M. Cohn, Francisco Contreras, Sansanee Craig, Camelia Isaic, Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, the Hereditary Angioedema Working Group (HAWK Group), Adil Adatia, Fiorella Adrianzen, Shimalee Andarawewa, Sladjana Andrejevic, Gabriel Emmanuel Arce‐Estrada, Ecem Ay, Adil Bahadir, Noemi Anna Bara, Marko Barešić, Krasimira Baynova, Shira Benor, Juliette Besson, Dharmagat Bhattarai, Patricia Bigas, Alexis Bocquet, Laurence Bouillet, Nicholas Brodszki, Thomas Buttgereit, Rosario Cabañas, Regis Campos, Asuman Çamyar, Orlane Chol, Stefan Cimbollek, Monica Colque Bayona, Cascia Day, Mats de Lange, Alex Fam, Davide Firinu, Tomas Freiberger, Johana Gil‐Serrano, Delphine Gobert, Dawn Goodyear, Maria del Mar Guilarte Clavero, Svetlana Hadvabova, David Hagin, Roman Hakl, George Harmat, Mensuda Hasanhodzic, Gocki Jacek, Joshua Jacobs, Rashmi Jain, Milos Jesenak, Amin Kanani, Daniela Kapustová, Boris Karanovic, Paul Keith, Tamar Kinaciyan, Pavlina Kralickova, Marcin Kurowski, Krzysztof Kuziemski, Rolando Laurel‐Laurel, Iris Leibovich‐Nassi, Gabriela Leon Zambrana, Ramon Lleonart, Lorena Lorenzo, Ferhat Maksudov, Ania Manson, Dusanka Markovic, Jayne McGucken, Nihal Mete Gokmen, Radovan Mijanovic, Vania Maria Miranda Saavedra, Irene Modestou, Sandra Nieto, Nora Nilsson, Patrik Nordenfelt, Francesca Perego, Angelica Petraroli, Elsa Phillips‐Angles, Alicia Prieto‐García, Michel Raguet, Marc Riedl, Matija Rijavec, Solange Rodrigues Valle, Yaryna Romanyshyn, Antoine Saut, Riccardo Senter, Branislav Šlenker, Marta Sobotkova, Peter J. Spaeth, Marcin Stobiecki, Linda Sundler Björkman, Mireille‐Maria Suttle, Agnes Szilágyi, Paola Triggianese, Kassiani Tzeli, Martina Vachová, Anna Valerieva, Solange Valle, Lilian Varga, Walter A. Wuillemin, Patrick Yong, Zhi Yuxiang, Liudmyla Zabrodska, Radana Zachova, Julia Zharankova   +128 more
wiley   +1 more source

A thinner endometrium is associated with a greater risk of preterm delivery after fresh cleavage embryo transfer but not after blastocyst transfer: a retrospective cohort study of 11,111 singleton live births

Frontiers in Endocrinology
BackgroundEndometrial thickness (EMT) has been confirmed to be associated with pregnancy outcomes after in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET), but studies on its relationship with neonatal outcomes are ...
Tian Ye, Tian Ye, Tian Ye, Tian Ye, Huijuan Kong, Huijuan Kong, Huijuan Kong, Huijuan Kong, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Wenqian Fan, Wenqian Fan, Wenqian Fan, Wenqian Fan, Linqing Du, Linqing Du, Linqing Du, Linqing Du, Jing Li, Jing Li, Jing Li, Jing Li, Yihong Guo, Yihong Guo, Yihong Guo, Yihong Guo   +27 more
doaj   +1 more source

Race and Assisted Reproduction: Implications for Population Health [PDF]

, 2018
This Article emerges from Fordham Law Review’s Symposium on the fiftieth anniversary of Loving v. Virginia, the case that found antimiscegenation laws unconstitutional.
Ahmed, Aziza
core   +2 more sources

Multimodal Assessment of Kidney Quality During 24‐h of Normothermic Machine Perfusion

Artificial Organs, EarlyView.
Normothermic machine perfusion (NMP) has emerged as a promising tool for assessing kidney quality prior to transplantation; however, reliable biomarkers remain to be established. In this study, thirteen porcine kidneys were perfused for 24 h using an autologous leukocyte‐filtered whole blood‐based perfusate applying urine recirculation.
Marlene Pühringer, Magdalena Kött, Andras T. Meszaros, Michael J. Blumer, Bettina Zelger, Stefan Redl, Martin Hermann, Thomas Resch, Simon Mathis, Gabriel Putzer, Judith Martini, Christina Bogensperger, Franka Messner, Julia Hofmann, Margot Fodor, Andrea Griesmacher, Annemarie Weissenbacher, Theresa Hautz, Gert Mayer, Hannes Neuwirt, Gerald Brandacher, Silvia Oberparleiter, Stefan Schneeberger   +22 more
wiley   +1 more source

Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle

Frontiers in Endocrinology
BackgroundMale sperm DNA fragmentation (SDF) may be associated with assisted reproductive technology (ART) outcomes, but the impact of SDF on the occurrence of aneuploid-related miscarriage remains controversial.MethodsGenome-wide single-nucleotide ...
Wanting Fu, Wanting Fu, Wanting Fu, Wanting Fu, Qiuying Cui, Qiuying Cui, Qiuying Cui, Qiuying Cui, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Hao Shi, Hao Shi, Hao Shi, Hao Shi, Qingling Yang, Qingling Yang, Qingling Yang, Qingling Yang, Linli Hu, Linli Hu, Linli Hu, Linli Hu   +23 more
doaj   +1 more source