Results 101 to 110 of about 63,250 (285)

The tolerance of aneuploidy in yeast

Genetical Research, 1970
SUMMARYSingle ascospore cultures from triploids were screened as a potential source of disomic tester stocks for the purpose of genetical mapping of chromosomes in yeast. A high tolerance of aneuploidy was found, and strains disomic for only one chromosome were rare.
E M, Parry, B S, Cox
openaire   +2 more sources

The association between male infertility and sperm disomy: Evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs [PDF]

, 2004
BACKGROUND: The association between infertility and sperm disomy is well documented. Results vary but most report that men with severely compromised semen parameters have a significantly elevated proportion of disomic sperm.
Xiao P Zhai, Homa, ST, Christopikou Dimitra, Christopikou, D, Homa, Sheryl T., Zhai, Xiao-Ping, Tempest, Helen G., Dalakiouridou, Maria, Griffin Darren K, David Wright, Wright, David B., Darren K Griffin, Sheryl T Homa, Wright, D, Maria Dalakiouridou, Griffin, DK, Dimitra Christopikou, Wright David, Homa Sheryl T, Dalakiouridou Maria, Tempest Helen G, Tempest, HG, Helen G Tempest, Dalakiouridou, M, Zhai Xiao P, Zhai, XP, Christopikou, Dimitra, Griffin, Darren K.   +27 more
core   +1 more source

Differences between mitotically old and young endometrial tumors

The Journal of Pathology, EarlyView.
Abstract Human tumors likely differ in their mitotic ages, reflecting how many divisions elapse between the final tumor progenitor cell and surgical removal. We used a rapidly fluctuating CpG (fCpG) methylation clock to infer relative endometrial adenocarcinomas (EAC) mitotic ages.
Kellie Kim, Darryl Shibata
wiley   +1 more source

Aneuploidy: Cancer strength or vulnerability? [PDF]

, 2019
Aneuploidy is a very rare and tissue-specific event in normal conditions, occurring in a low number of brain and liver cells. Its frequency increases in age-related disorders and is one of the hallmarks of cancer.
Martinelli G., Tenti E., Padella A., Bruno S., Simonetti G.   +4 more
core   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

The Journal of Pathology, EarlyView.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár   +21 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

The Diagnosis and Prenatal Management of Non‐RHD Alloimmunizations

Prenatal Diagnosis, EarlyView.
ABSTRACT Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy.
Mar Bennasar, Antoni Borrell
wiley   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Aneuploidy: cells losing their balance

, 2008
A change in chromosome number that is not the exact multiple of the haploid karyotype is known as aneuploidy. This condition interferes with growth and development of an organism and is a common characteristic of solid tumors. Here, we review the history
Torres, Eduardo Miguel, Amon, A., Williams, B. R.   +2 more
core   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source