Results 191 to 200 of about 37,774 (292)

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Genetic and Epigenetic Mechanisms Underlying Phenotypic Discordance in Monochorionic Monozygotic Twins: A Systematic Review. [PDF]

Genes (Basel)
Colacurci D, Maruotti GM, Saccone G, D'Agostino AM, De Santis MV, Riccardi M, Martirani M, Guida M, Sarno L.   +8 more
europepmc   +1 more source

Karyotyping [PDF]

, 2020
openaire   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing. [PDF]

Front Genet
Huang N, Xu Y, Ding S, Pan L, Zhou P, Zou Y, Feng C, Huang S, Liu Y, Yang B, Yuan H.   +10 more
europepmc   +1 more source

ABSTRACTS

Precision Radiation Oncology, EarlyView.
wiley   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia. [PDF]

J Pathol
Bekő A, Péterffy B, Hughes A, Jakab JS, Haltrich I, Árvai KB, Bedics G, Csonka K, Papp G, Kapczár D, Bohusné Barta BA, Hegyi LL, Szalóki G, Barna G, Matolcsy A, Egyed B, Hevessy Z, Benard-Slagter A, Palit S, Savola S, Bödör C, Alpár D.   +21 more
europepmc   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Research Progress in the Cytogenetics of Sweetpotato and Its Wild Relatives. [PDF]

Plants (Basel)
Zhuansun Q, Han Y.
europepmc   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source