Results 301 to 310 of about 1,033,685 (362)

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

Significance of the CTP-binding motif for the interactions of S. coelicolor ParB with DNA, chromosome segregation, and sporogenic hyphal growth. [PDF]

Nucleic Acids Res
Szymczak J, Strzałka A, Bania D, Jakimowicz D, Szafran MJ.   +4 more
europepmc   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Chk2 sustains PLK1 activity in mitosis to ensure proper chromosome segregation. [PDF]

Nat Commun
Black EM, Ramírez Parrado CA, Trier I, Li W, Joo YK, Pichurin J, Liu Y, Kabeche L.   +7 more
europepmc   +1 more source

RED1: a yeast gene required for the segregation of chromosomes during the reductional division of meiosis.

, 1988
Beth Rockmill, G. Shirleen Roeder
openalex   +2 more sources

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

<i>DLGAP5</i> mutations Disrupt Normal Chromosome Segregation and Spindle Formation of human Oocyte Meiosis and Lead to Female Infertility. [PDF]

MedComm (2020)
Wang M, Li Z, Zhou J, Long R, Xi Q, Gao H, Li Y, Jin L, Zhu L.   +8 more
europepmc   +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

Chromosome segregation: Brushing up on centromeres. [PDF]

Curr Biol
Bloom K.
europepmc   +1 more source

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