Results 121 to 130 of about 54,677 (265)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

SELECTED ORAL COMMUNICATION SESSION, SESSION 36: ANEUPLOIDY, Tuesday 5 July 2011 10:00 - 11:30 [PDF]

, 2011
Paul R. Brezina, Kambria Nguyen, Amelia Benner, Lp Du, Robert D. Ross, A. Barker, Raymond M. Anchan, Karin Richter, W.G. Kearns, Kirstine Kirkegaard, Johnny Hindkjær, Hans Jakob Ingerslev, Elena Garcia-Guixé, A.R. Jiménez-Macedo, César Arjona, C Lozano Gimenez, M. Sandalinas, Emiko Mizutani, Nobuhiro Suzumori, Yukio Ozaki, K. Oseto, C. Yamada-Namikawa, M Nakanishi, MAYUMI SUGIURA‐OGASAWARA, E. Borges, R. C. S. Figueira, D. P. A. F. Braga, F. F. Pasqualetto, Amanda Souza Setti, Assumpto Iaconelli, Е. Н. Толмачева, А. А. Кашеварова, N. N. Sukhanova, И. Н. Лебедев   +33 more
openalex   +1 more source

Combination of aneuploidy and high S-phase fraction indicates increased risk of relapse in stage I endometrioid endometrial carcinoma [PDF]

, 2021
Annika Patthey, Karin Boman, Björn Tavelin, David Lindquist, Eva Lundin, Magnus Hultdin   +5 more
openalex   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Chromosomal instability in human trophoblast stem cells and placentas

Nature Communications
The human placenta, a unique tumor-like organ, is thought to exhibit rare aneuploidy associated with adverse pregnancy outcomes. Discrepancies in reported aneuploidy prevalence in placentas stem from limitations in modeling and detection methods.
Danyang Wang, Andrew Cearlock, Katherine Lane, Chongchong Xu, Ian Jan, Stephen McCartney, Ian Glass, Rajiv McCoy, Min Yang   +8 more
doaj   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Experimental Evolution Identifies Adaptive Aneuploidy as a Mechanism of Fluconazole Resistance in Candida auris

, 2020
Jian Bing, Tianren Hu, Qiushi Zheng, José F. Muñoz, Christina A. Cuomo, Guanghua Huang   +5 more
openalex   +2 more sources

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

, 2017
Zamathombeni Duma, Aye Aye Khine
openalex   +1 more source

Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans [PDF]

, 2011
Alem S. Gabriel, Alan R. Thornhill, Christian S. Ottolini, Arlene B. Gordon, Anthony P. Brown, John Taylor, K. Bennett, Alan H. Handyside, Darren K. Griffin   +8 more
openalex   +1 more source