Results 61 to 70 of about 22,399 (205)

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Supporting couples with polycystic kidney disease in a medically assisted reproduction process

Giornale di Clinica Nefrologia e Dialisi
Preimplantation diagnosis process for couples with polycystic kidney disease involves several steps: genetic and gynecological counseling, in vitro fertilization (IVF/ICSI), embryo biopsy, genetic analysis, selection of healthy embryos and implantation.
Daniela Zuccarello, Claudia Livi, Valentina Zicaro, Sara Communci, Ludovica Picchetta   +4 more
doaj   +1 more source

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis

Frontiers in Genetics, 2023
Introduction: This study aimed to evaluate the feasibility and necessity of using fluorescence Gap-polymerase chain reaction combined with haplotype analysis in preimplantation genetic testing for SEA-type α-thalassemia.Methods: A total of 26 ...
Jing Wang, Yuanlin Ma, Jing Guo, Rong Li, Canquan Zhou, Yanwen Xu   +5 more
doaj   +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

Preimplantation Genetic Diagnosis in Marfan Syndrome

Case Reports in Obstetrics and Gynecology, 2013
Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection.
N. F. Vlahos, O. Triantafyllidou, N. Vitoratos, C. Grigoriadis, G. Creatsas   +4 more
doaj   +1 more source

L'incostituzionalità della diagnosi genética preimpianto [PDF]

, 2015
medically assisted procreation, preimplantation genetic diagnosis ...
Di Miele, Cinzia
core  

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

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

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

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

British Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George, Elisabeth Rolf, Monika Domeradzka, Sara Ribeiro, Brittany Mills, April Hallett, Suzanne Macmahon, Paula Proszek, Ridwan Shaikh, Lina Yuan, Michael Hubank, Mikel Valganon Petrizan, Terri P. McVeigh, Jamshid S. Khorashad   +13 more
wiley   +1 more source