Results 71 to 80 of about 218,782 (270)

A Quantitative Understanding of Human Sex Chromosomal Genes [PDF]

arXiv, 2012
In the last few decades, the human allosomes are engrossed in an intensive attention among researchers. The allosomes are now already been sequenced and found there are about 2000 and 78 genes in human X and Y chromosomes respectively. The hemizygosity of the human X chromosome in males exposes recessive disease alleles, and this phenomenon has ...
arxiv  

Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans, Hamza A. Salhab, Christopher D. J. Sinclair, Sachit Shah, Michael G. Hanna, Tarek A. Yousry, John S. Thornton, Jasper M. Morrow, Mary M. Reilly   +8 more
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

International Journal of Medical Students, 2022
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil   +1 more
doaj  

Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real‐world cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven, Saan Salih, Juna M. de Vries, Ide Smets, Rob M. Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S. Crijnen, Marjolein Geurts, Jacoline E. C. Bromberg, Corine H. GeurtsvanKessel, Peter A. E. Sillevis Smitt, Rutger K. Balvers, Maarten J. Titulaer   +14 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Spontaneous domain formation in disordered copolymers as a mechanism for chromosome structuring [PDF]

arXiv, 2018
Motivated by the problem of domain formation in chromosomes, we studied a co--polymer model where only a subset of the monomers feel attractive interactions. These monomers are displaced randomly from a regularly-spaced pattern, thus introducing some quenched disorder in the system.
arxiv  

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Neurobiology of Disease, 2010
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart, David Wu, Janine M. LaSalle, N. Carolyn Schanen   +3 more
doaj