Results 121 to 130 of about 207,744 (307)

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

, 2020
International audienceAimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent ...
J. Pouget, Cerino, Mathieu, Salvi, Alexandra, Attarian, Shahram, R. Juntas Morales, Cossée, M., Bartoli, Marc, Gorokhova, Svetlana, S. Attarian, S. Gorokhova, A. Maues De Paula, E. Campana‐Salort, M. Cerino, N. Bonello‐Palot, Bonello-Palot, Nathalie, Levy, Nicolas, T. Stojkovic, J. Mortreux, F. Leturcq, Mortreux, Jeremie, Krahn, Martin, C. Tard, Salort-Campana, Emmanuelle, M. Bartoli, M. Krahn, Maues de Paula, André, N. Lévy, Leturcq, F., P. Cintas, Cintas, P, D. Renard, Tard, C, Renard, D., Stojkovic, T, Juntas Morales, R, A. Salvi, M. Cossée   +36 more
core   +1 more source

Penetrance rate estimation in autosomal dominant conditions

Genetics and Molecular Biology, 2012
Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following
Paulo A. Otto, Andréa R.V.R. Horimoto
doaj  

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

Progression of autosomal dominant kidney disease: measurement of the stage transitions of chronic kidney disease

, 2015
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a progressive genetic disorder characterized by the development of numerous kidney cysts that result in kidney failure.
Nancy Lin, Xiangmei Gu, Christopher M Blanchette, Britt Newsome, Deborah Lubeck, Sandro Rossetti, Benjamin Gutierrez, Caihua Liang, Deborah P Lubeck, Ciahua Liang, Sandro Rossett, Christopher Blanchette, Nancy D Lin   +12 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

, 2011
Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant ...
Bowirrat A, Bianchi S, Shahien R
core  

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source