Results 111 to 120 of about 47,394 (257)

Single-cell sequencing shows mosaic aneuploidy in most human embryos

The Journal of Clinical Investigation
Mammalian preimplantation embryos often contain chromosomal defects that arose in the first divisions after fertilization and affect a subpopulation of cells — an event known as mosaic aneuploidy. In this issue of the JCI, Chavli et al.
Sarah A. Robertson, Robert I. Richards
doaj   +1 more source

Prenatal Presentation of ENPP1‐Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype–Genotype Report

Prenatal Diagnosis, EarlyView.
Ismail Tekesin, Gunter Kerst, Loredana Delle Chiaie, April Dinwiddie, Heinz Gabriel   +4 more
wiley   +1 more source

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Copy number variation analysis of cerebrospinal fluid metagenomic next‐generation sequencing data in assisting the diagnosis of pediatric brain tumors

Pediatric Investigation, EarlyView.
Changhong Ren, Xiuwei Zhuo, Xinying Yang, Xingfeng Yao, Shuai Gong, Hui Xiong, Fang Fang, Weihua Zhang   +7 more
wiley   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Feminizing Therapy in People With Klinefelter Syndrome and Gender Incongruence: Considerations for Treatment Without Testosterone Blockers

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS; 47, XXY) usually involves male sex development and gender identity. Small studies suggest gender incongruence may be more common in KS, but feminizing gender‑affirming hormone therapy in this group has been scarcely reported.
Maaike Kroon, Tamira Klaziene Klooker, Sabine Elisabeth Hannema, Martin Den Heijer   +3 more
wiley   +1 more source

Machine Learning‐Based Prediction of Sperm Retrieval Outcomes in Patients With Klinefelter Syndrome: A Multicenter Study With External Validation

Andrology, EarlyView.
ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül, Ali Şahin, Cevahir Özer, Mesut Altan, Tansu Güdelci, Kadir Can Sahin, Mehmet Hamza Gültekin, Muhammed Arif İbis, Mesut Berkan Duran, Burak Sivaslıoğlu, Eray Hasırcı, Mert Kılıç, Ali Can Albaz, Gökhan Çeker, Gianmaria Salvio   +14 more
wiley   +1 more source

Aneuploidy promotes transient stress adaptation and metabolic flexibility in the human fungal pathogen Aspergillus fumigatus. [PDF]

Curr Biol
Lehmann AE, Aguilar Ramírez E, Keller NP, Heitman J.   +3 more
europepmc   +1 more source

Improving ARTs: Microfluidics as a Tool for Sperm Selection

Andrology, EarlyView.
ABSTRACT Sperm selection is a critical step in assisted reproductive technology (ART), as sperm quality directly influences embryo quality. In vivo, the female reproductive tract imposes several physical and physiological barriers that favors only the most optimal spermatozoa reaching the fertilization site.
A. Pérez‐Gómez, A. Urriés, J. L. de Pablo, L. Serrano‐Ramón, S. Sanchez, R. Herrer, J. M. Morrell, C. Malo   +7 more
wiley   +1 more source

Non-Invasive Screening of AI-Assisted DNA Aneuploidy Cytology by Image Cytometry for the Early Diagnosis of Malignant Transformation of OPMDs. [PDF]

Int Dent J
Tan YQ, Wang F, Chen XY, Huang XX, Wei XY, Lu R, Chen XJ, Du GF, Wang F, He MJ, Zhang J, Zhou G.   +11 more
europepmc   +1 more source