Results 111 to 120 of about 44,045 (236)

Preimplantation genetic screening [PDF]

, 2018
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child.
Harper, JC
core  

Prenatal Diagnosis of Recurrent Fetal Intracranial Hemorrhage and a Maternally Inherited COL4A1 Variant of Uncertain Significance: A Case Report With Maternal Reverse Phenotyping

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT A 33‐year‐old woman with two consecutive pregnancies affected by fetal left periventricular germinal matrix hemorrhage (Grade IV) and progressive ventriculomegaly underwent trio whole‐exome sequencing. A heterozygous COL4A1 c.4249G>C (p.Gly1417Arg) variant, classified as a variant of uncertain significance, was identified in the fetus of the ...
Wei Shi, Hongjing Xu, Caihong Pu, Yuanzhong Liang, Ting Zhao, Xueli Wang, Zhenxing Liu, Chunhua Zhang, Ting Li, Fengquan He   +9 more
wiley   +1 more source

Peptide growth factors and preimplantation development

, 1997
This paper examines some of the problems and questions that must be considered in relation to research on the role of growth factors in preimplantation embryos.
Kane, M.
core   +1 more source

Long-chain fatty acid β-oxidation regulates embryonic development by H3K18 acetylation in mice

Frontiers in Cell and Developmental Biology
Fatty acids are not only important as energy sources, but also playing crucial roles in maintaining cellular homeostasis. However, their role in preimplantation development remains unclear. Here, we find that fatty acids gradually accumulate after 4-cell
Kefan Zheng, Hongdi Cui, Ziheng Tang, Entong Song, Qingran Kong, Jiaming Zhang, Hao Li, Qi Zhao   +7 more
doaj   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Preimplantation diagnosis: The brussels experience

, 1996
Preimplantation diagnosis is an early form of prenatal diagnosis, where preimplantation embryos obtained through IVF are analyzed for genetic diseases. This can be done using the polymerase chain reaction (PCR) in the case of monogenetic diseases such as
Van Assche, Elvire, Sermon, Karen, Liebaers, Ingeborg, Staessen, Cathérine, Lissens, Willy, Desmyttere, Sonja, Joris, Hubert, Van Steirteghem, André   +7 more
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Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication

Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley   +1 more source

Mode of conception and pregnancy outcomes at term among low‐risk nulliparous patients

Pregnancy, Volume 2, Issue 6, November 2026.
Abstract Introduction Available data suggest that assisted reproductive technology (ART) is associated with adverse perinatal outcomes; however, prior studies have been confounded by multifetal gestations, preterm birth, and patient medical comorbidities.
Gabriella D. Cozzi‐Glaser, Christina T. Blanchard, Lauren A. Pace, Lynda Ugwu, Sukhkamal Campbell, Alan T. Tita, Rachel G. Sinkey   +6 more
wiley   +1 more source

Long Non‐Coding RNAs: Key Regulators of Economic Traits in Livestock From Mechanisms to Breeding Applications

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
Long non‐coding RNAs (lncRNAs) act as key regulators of economically important traits in livestock through diverse mechanisms including ceRNA networks, epigenetic regulation (X‐inactivation and imprinting) and liquid–liquid phase separation (LLPS).
Keyvan Khani, Mohammad Taher Harkinezhad, Rahimeh Sepehri   +2 more
wiley   +1 more source

Karyomapping and how is it improving preimplantation genetics?

, 2017
INTRODUCTION: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and ...

core   +1 more source