Results 41 to 50 of about 847 (152)

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Use and misuse of preimplantation genetic testing [PDF]

BMJ, 2007
Detection of genetic diseases before implantation for couples at risk helps ensure healthy children, but testing for aneuploidy does not improve the chances of live birth in normal infertile women, say Peter Braude and Frances ...
Peter, Braude, Frances, Flinter
openaire   +2 more sources

Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A

Frontiers in Endocrinology, 2020
Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of ...
Anders Würgler Hansen, Anders Würgler Hansen, Laura Kirstine Sønderberg Roos, Kristine Løssl, Christian Godballe, Christian Godballe, Jes Sloth Mathiesen, Jes Sloth Mathiesen   +7 more
doaj   +1 more source

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

Developmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source

The effect of ovarian stimulation protocol on follicular asynchrony during in vitro fertilization – A retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To examine the effect of controlled ovarian stimulation (COS) protocol on follicular synchrony in a subsequent in vitro fertilization (IVF) cycle in patients whose previous cycle was canceled due to asynchrony. Methods A single‐center retrospective‐cohort study (January 2018–March 2024), including women undergoing IVF who had: (1) a ...
Alyssa Hochberg, Maria Hincapie, Uri Amikam, Nir Kugelman, William Buckett, Shauna Reinblatt   +5 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

The Different Biopsy Techniques

Fertility & Reproduction, 2023
Preimplantation genetic testing needs access to genomic DNA in order to execute a genetic test on a preimplantation embryo. Normally a few cells must be extracted or ‘biopsied’ from the embryo to achieve this.
Keshav Malhotra
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A

Human Genome Variation
Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of
Yuki Mizuguchi, Kou Sueoka, Suguru Sato, Mamoru Tanaka   +3 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