Results 141 to 150 of about 36,631 (311)

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq

BMC Pregnancy and Childbirth
Background The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang, Mengmeng Li, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Yan Lü, Qingwei Qi   +7 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Lymphocyte Micronucleus Formation Is Driven by Inflammation‐Induced Oxidative DNA Damage in Oesophageal Cancer Development

International Journal of Cancer, EarlyView.
Chromosomal instability is a hallmark of cancer, but minimally invasive ways to detect systemic DNA damage and cancer risk remain limited. Here, using patient blood samples, the authors investigated lymphocyte micronuclei (MN) frequency as a potential marker of DNA damage across the progression from gastroesophageal reflux disease to Barrett's ...
Kathryn Munn, Rachel Lawrence, Hasan Haboubi, Hamsa Naser, Kate Hurlow, Ume‐Kulsoom Shah, Lisa Williams, Sarah Gwynne, Owen Bodger, Jiri Zavadil, Francois Virard, Shareen Doak, Laura E. Thomas, Gareth Jenkins   +13 more
wiley   +1 more source

Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Glenys Katiuska Silva González, Lisset Romero Portelles, Ivette Díaz Plá   +4 more
doaj  

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

Heterogeneity of acute myeloid leukemia with the translocation t(8;21)(q22;q22)

Терапевтический архив, 2014
AIM. To characterize the clinical and hematological variability of acute myeloid leukemia (AML) with t(8;21) and to identify the signs associated with the likelihood of its relapse. MATERIALS AND METHODS.
S V Gritsaev, I S Martynkevich, I S Ziuzgin, E V Kariagina, L S Martynenko, E V Petrova, N Iu Tsybakova, M P Ivanova, I I Kostroma, S A Tiranova, N A Potikhonova, K M Abdulkadyrov   +11 more
doaj  

Obstetrical outcomes in pregnant patients following a gluten‐free diet: A prospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Concerns have been raised about the nutritional adequacy of a gluten‐free (GF) diet during pregnancy, specifically in the absence of celiac disease, and its impact on fetal development. The objective of this study was to investigate the association between a GF diet during pregnancy and obstetrical outcomes, with further sensitivity ...
Amelia Srajer, Meghan Harris, Jessry Santos, Jessica Dalere, James A. King, Janice C. Skiffington, Donna Slater, Lara Leijser, Amy Metcalfe   +8 more
wiley   +1 more source

Arbuscular mycorrhizal fungal community abundance, functions, and symbiotic interactions revealed by root metatranscriptomes

iMetaOmics, EarlyView.
Paradigm shift: PCR‐free methods reveal 6–15‐fold higher arbuscular mycorrhizal (AM) fungal abundance than metabarcoding, exposing systematic underestimation across decades of research. Predictive power: AM fungal abundance serves as a community‐level trait that predicts crop yield under drought conditions.
Peilin Chen, John W. Taylor, Cheng Gao
wiley   +1 more source

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source