Results 131 to 140 of about 293,955 (289)

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation [PDF]

, 2002
Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Cheetham, ME, Luthert, PJ, Munro, PMG, Saliba, RS   +3 more
core  

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

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder

Clinical Case Reports, 2022
Aayush Adhikari, Suraj Shrestha, Prabin Bhattarai, Surendra Khanal, Rajan Lamichhane, Ramesh Balayar, Sobin Panta, Kundan Marasini   +7 more
doaj   +1 more source

The Genetics of Parkinson’s Disease

Genel Tıp Dergisi
Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian ...
Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel   +2 more
doaj   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

HYPERTENSION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Turkish Journal of Nephrology, 2019
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Züleyha AKKAN, Tevfık ECDER
doaj