Results 51 to 60 of about 12,612 (210)

Preimplantation diagnosis of genetic disease

Current Opinion in Obstetrics and Gynecology, 1993
Preimplantation diagnosis offers couples at high risk of transmitting a genetic disease the opportunity of prenatal diagnosis before the establishment of pregnancy. The successful application of embryo biopsy techniques, and of the polymerase chain reaction for the amplification of DNA, as well as fluorescent in-situ hybridization methods have allowed ...
A L, Muggleton-Harris, P R, Braude
openaire   +4 more sources

Preimplantation Genetic Diagnosis—An Overview [PDF]

Journal of Histochemistry & Cytochemistry, 2005
Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed ...
Ogilvie, C M, Braude, P R, Scriven, P
openaire   +3 more sources

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

Embryos derived from donor or patient oocytes are not different for in vitro fertilization outcomes when PGT allows euploid embryo selection: a retrospective study

Clinical and Translational Medicine, 2020
Background At our facilities, patients that received embryos using donor oocyte during in vitro fertilization (IVF), usually have had at least one failed attempt to produce at least one euploid embryo with their own oocytes; however, the current debate ...
Elizabeth Schaeffer, Leonardo M. Porchia, Adina Neumann, Almena Luna, Tania Rojas, Esther López-Bayghen   +5 more
doaj   +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 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

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

, 2023
Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk of transmitting genetic diseases.
Ugo Sorrentino, Angela Vallefuoco, Roberta Giuliano, Daniela Zuccarello, Anna Maione   +4 more
core   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 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

Choosing embryos: Ethical complexity and relational autonomy in staff accounts of PGD

, 2007
Copyright @ 2008 the authors. This article is available in accordance with the Creative Commons Deed, Attribution 2.5, see http://creativecommons.org/licenses/by-nc-nd/2.5/deed.en_CA.The technique of preimplantation genetic diagnosis (PGD) is commonly ...
Williams, C, Clare Williams, Sandall, Jane; id_orcid, Jane Sandall (3213219), Kathryn Ehrich (16049615), Kathryn Ehrich, Bobbie Farsides, Bobbie Farsides (4461928), Sandall, J, Rosamund Scott, Jane S, Scott, R, Rosamund Scott (16049618), Jane Sandall, Farsides, Bobbie, Ehrich, K, Ehrich, Kathryn, Williams, Clare, Clare Williams (14068554), Farsides, B, Scott, Rosamund   +20 more
core   +1 more source