Results 151 to 160 of about 1,639,589 (408)

Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

Journal of the American Society of Nephrology, 2015
The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in at-risk subjects younger than 30 years of age.
Y. Pei, Y. Hwang, J. Conklin, J. L. Sundsbak, C. M. Heyer, W. Chan, Kairong Wang, N. He, A. Rattansingh, M. Atri, P. Harris, M. Haider   +11 more
semanticscholar   +1 more source

A model for the clustered distribution of SNPs in the human genome [PDF]

arXiv, 2016
Motivated by a non-random but clustered distribution of SNPs, we introduce a phenomenological model to account for the clustering properties of SNPs in the human genome. The phenomenological model is based on a preferential mutation to the closer proximity of existing SNPs.
arxiv  

Familial sinus node dysfunction with autosomal dominant inheritance. [PDF]

, 1978
H. Immo Lehmann, Ulrike Klein
openalex   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]

, 2019
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A, Booshehri, Laela M, Broderick, Lori, Brydges, Susannah D, Cowell, Ian G, Croker, Ben A, Frazer, Kelly A, Gebauer, Corinna, Guaderrama, Marisela, Hakonarson, Hakon, Harr, Margaret, Hoffman, Hal M, Hügle, Boris, Kucharova, Karolina, Li, Dong, McGeough, Matthew D, Patel, Niraj C, Putnam, Christopher D, Wang, Jian, Xu, Xun, Yost, Shawn, Zackai, Elaine, Zhang, Jianguo   +22 more
core  

Isolated growth hormone deficiency: Two families with autosomal dominant inheritance [PDF]

, 1974
E.M.E. Poskitt, P H Rayner
openalex   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Epigenetic editing for autosomal dominant neurological disorders

Frontiers in Genome Editing
Epigenetics refers to the molecules and mechanisms that modify gene expression states without changing the nucleotide context. These modifications are what encode the cell state during differentiation or epigenetic memory in mitosis.
Jennifer J. Waldo, Julian A. N. M. Halmai, Kyle D. Fink   +2 more
doaj   +1 more source

Progressive Cardiomyopathic Lentiginosis: First Report of Autopsy Findings in a Recently Recognized Inheritable Disorder (Autosomal Dominant) [PDF]

, 1970
E J Moynahan
openalex   +1 more source

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source