Results 121 to 130 of about 22,286 (215)

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene. [PDF]

Appl Clin Genet, 2021
Trinh The S, Trieu Tien S, Vu Van T, Nguyen Ngoc N, Tran Ngoc Thao M, Tran Van K, Vu Nhat D, Do Nhu B.   +7 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

Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. [PDF]

Eur J Hum Genet, 2022
Yeates L, McDonald K, Burns C, Semsarian C, Carter S, Ingles J.   +5 more
europepmc   +1 more source

A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran. [PDF]

BMC Pregnancy Childbirth, 2022
Keshvar Y, Sabeghi S, Sharifi Z, Fatemi KS, Fouladi P, Younesi Khah S, Rahiminejad F, Joudaki A, Amini M, Bagherian H, Ghaffari Novin M, Movahedin M, Mojbafan M, Zeinali S.   +13 more
europepmc   +1 more source

Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis. [PDF]

Prenat Diagn, 2022
Watson CM, Holliday DL, Crinnion LA, Bonthron DT.   +3 more
europepmc   +1 more source

Diagnóstico Genético Pré-implantação: aspetos técnicos e considerações éticas [PDF]

, 2012
Com o avanço das técnicas de Procriação Medicamente Assistida (PMA), surgiu em 1990 a primeira criança nascida após diagnóstico genético pré-implantação (DGPI).
Oliva Teles, Natália
core  

BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). [PDF]

J Assist Reprod Genet, 2022
Lombardi L, Trumello C, Stuppia L, Antonucci I, Brandão T, Babore A.   +5 more
europepmc   +1 more source

Twenty-seven years of controversy: The perils of PGD [PDF]

, 2018
It has been 27 years since the Human Fertilisation and Embryology Act 1990 was passed in the United Kingdom in response to advances in fertility treatment.
Cherkassky, Lisa
core  

Recent developments in genetics and medically assisted reproduction: from research to clinical applications [PDF]

, 2018
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of ...
Aittomaki, K, Borry, P, Cornel, MC, de Wert, G, Dondorp, W, European Society of Human Genetics, ., European Society of Human Reproduction and Embryology, ., Geraedts, J, Gianaroli, L, Harper, JC, Ketterson, K, Liebaers, I, Lundin, K, Macek, M, Mertes, H, Morris, M, Pennings, G, Sermon, K, Soini, S, Spits, C, van Montfoort, APA, Veiga, A, Vermeesch, JR, Viville, S   +23 more
core  

Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan. [PDF]

Clin Kidney J, 2021
Peces R, Mena R, Peces C, Cuesta E, Lapunzina P, Selgas R, Nevado J.   +6 more
europepmc   +1 more source