Results 101 to 110 of about 22,399 (205)

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Orphanet Journal of Rare Diseases, 2018
Background Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics ...
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger   +8 more
doaj   +1 more source

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia. [PDF]

Front Endocrinol (Lausanne), 2023
Lan Y, Zhou H, He S, Shu J, Liang L, Wei H, Luo J, Wang C, Zhao X, Qiu Q, Huang P.   +10 more
europepmc   +1 more source

Sci‐Fi Parenthood and the End of Love

Journal of Social Philosophy, EarlyView.
Daniela Cutas
wiley   +1 more source

The ethical challenges of preimplantation genetic diagnosis (PGD)

Diaconia, 2014
Pre-implantation genetic diagnosis (PGD or PIGD) refers to genetic profiling of embryos prior to implantation (as a form of embryo profiling). PGD has raised ethical issues, although this approach could reduce reliance on fetal selection during pregnancy.
Øivind Foss
doaj   +1 more source

False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3 [PDF]

, 2013
In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4.
Buendía Segura, Maria del Pilar, Mateu, Emilia, Mercader, Amparo, Milán-Sánchez, Miguel, Mir, Pere, Peinado Cervera, Vanessa, Pellicer Martínez, Antonio, Remohí Giménez, José, Rodrigo Vivó, Lorena, Rubio Lluesa, Carmen, Simón Vallés, Carlos   +10 more
core   +1 more source

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation. [PDF]

J Assist Reprod Genet, 2021
Ji D, Li X, Pan J, Zong K, Chen D, Marley JL, Zou W, Deng X, Cao Y, Zhang Z, Zhou P, Sha H, Cao Y.   +12 more
europepmc   +1 more source

Endometrial stromal cells of women with recurrent miscarriage fail to discriminate between high- and low-quality human embryos [PDF]

, 2012
Background The aetiology of recurrent miscarriage (RM) remains largely unexplained. Women with RM have a shorter time to pregnancy interval than normally fertile women, which may be due to more frequent implantation of non-viable embryos.
AJ Wilcox, AM Musters, Annemieke Kavelaars, B Gellersen, Birgit Gellersen, Charlotte H. E. Weimar, Cobi J. Heijnen, Cornelis B. Lambalk, CW Redman, DK Gardner, E Vanneste, EB Baart, G Teklenburg, G Teklenburg, GM Stirrat, H Carp, HJ Leese, HJ Leese, HM Picton, IC Lakovschek, Jan J. Brosens, JD Aplin, JL Evers, Johanna M. T. de Vreeden-Elbertse, M Bielanska, M Gonzalez, M Salker, N Mansouri-Attia, Nick S. Macklon, NS Macklon, PJ Stokes, R Rai, RM Popovici, S Grewal, S Grewal, S Quenby   +35 more
core   +3 more sources

Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia. [PDF]

PLoS One, 2022
Vuong VVH, Tran TH, Nguyen PD, Thi NN, Le Thi P, Minh Nguyet DT, Nguyen MH, Bui TH, Ta TV, Tran VK.   +9 more
europepmc   +1 more source

Preimplantation genetic diagnosis for cystic fibrosis: a case report

Einstein (São Paulo)
Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus ...
Maria Cristina Santoro Biazotti, Walter Pinto Junior, Maria Cecília Romano Maciel de Albuquerque, Litsuko Shimabukuro Fujihara, Cláudia Haru Suganuma, Renata Bednar Reigota, Carmen Sílvia Bertuzzo   +6 more
doaj   +1 more source

Preimplantation Genetic Diagnosis for Brca1 and Brca2 Mutations

Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2016
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome with multiple family members with breast cancer or ovarian cancer or both, the presence of both breast cancer and ova-rian cancer in a single individual, and ...
Yavuz Emre Șükür, Batuhan Özmen, Cem Somer Atabekoğlu   +2 more
doaj   +1 more source