Results 251 to 260 of about 405,684 (326)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Chromosomal G-dark Bands Determine the Spatial Organization of Centromeric Heterochromatin in the Nucleus

, 2001
Célia Carvalho, Henrique M. Pereira, João Ferreira, Cristina Pina, Denisa Mendonça, Alessandro Pasquale De Rosa, Maria Carmo‐Fonseca   +6 more
openalex   +2 more sources

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3 [PDF]

, 2001
Yuji Mizuno, Annibale Alessandro Puca, Kristine O'Brien, Alan H. Beggs, Louis M. Kunkel   +4 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Insights into the energy landscapes of chromosome organization proteins from coevolutionary sequence variation and structural modeling. [PDF]

Proc Natl Acad Sci U S A, 2020
Levy RM.
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Two major mechanisms of chromosome organization. [PDF]

Curr Opin Cell Biol, 2019
Mirny LA, Imakaev M, Abdennur N.
europepmc   +1 more source

Chromosome Organization and Gene Recombination

Cold Spring Harbor Symposia on Quantitative Biology, 1956
openaire   +2 more sources

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

P158: Generating advancements in longitudinal analysis in X&Y chromosome variations: Initial data from the multicenter GALAXY Clinical Data Registry and biorepository*

Genetics in Medicine Open
Susan Howell, Kayla Molison, Alexandra Carl, Nicole Tartaglia, Carol Meerschaert, Gail Decker, Ryan Brigante, Shanlee Davis   +7 more
doaj   +1 more source