PMID: 1346439Feb 8, 1992

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

Lancet
S SaitohM Lalande

Abstract

No abstract listed.

References

Nov 20, 1997·Journal of Cellular Physiology·B Horsthemke
Mar 1, 1993·Behavior Genetics·M J Durcan, D Goldman
May 1, 1995·Journal of the Neurological Sciences·S ChatkuptW G Johnson
Jan 1, 1995·Brain & Development·G L CasaraV Marchiani
May 1, 1994·Brain & Development·C YoungY Z Shen
Apr 21, 1999·Brain Research. Brain Research Reviews·A K Mehta, M K Ticku
Jul 21, 1999·Brain & Development·S BuoniA Fois
Sep 1, 1994·Nature Genetics·M Lalande
Jun 11, 1992·The New England Journal of Medicine·M J MascariR D Nicholls
Mar 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·R D NichollsE M Rinchik
Oct 9, 2002·Clinical Obstetrics and Gynecology·Yuval Yaron, Avi Orr-Urtreger
Dec 24, 1997·Journal of the American Academy of Child and Adolescent Psychiatry·M W StateE Dykens
Jan 1, 1992·Acta Neurologica Scandinavica. Supplementum·D LindhoutD G Kasteleijn-Nolst Trenité
Dec 1, 1992·Journal of Medical Genetics·E J Meijers-HeijboerM F Niermeijer
Jan 1, 1994·Journal of Medical Genetics·A G SearleJ G Hall
Feb 5, 2003·Journal of Medical Genetics·J Clayton-Smith, L A Laan
Jan 1, 1996·Annual Review of Genetics·M Lalande
Nov 10, 2001·Annual Review of Genomics and Human Genetics·R D Nicholls, J L Knepper
Jan 11, 2000·Proceedings of the National Academy of Sciences of the United States of America·J CavailléA Hüttenhofer
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·G E HomanicsR W Olsen
Mar 29, 1994·Proceedings of the National Academy of Sciences of the United States of America·C T CuliatE M Rinchik
Sep 1, 1994·American Journal of Medical Genetics·M R NelenH J Smeets
Nov 1, 1995·Journal of Child Neurology·F VianiV Briscioli
Jun 13, 1997·American Journal of Medical Genetics·K J Connerton-MoyerR M Pauli
Oct 1, 1992·Annals of Neurology·R D NichollsE S Cantú
Dec 23, 1999·American Journal of Medical Genetics·R D Nicholls
Dec 8, 2006·American Journal of Medical Genetics. Part a·Kanako SatoNaomichi Matsumoto
Feb 15, 1994·American Journal of Medical Genetics·T KubotaT Ishimaru
Aug 15, 1994·American Journal of Medical Genetics·S SaitohJ Wagstaff
Apr 1, 1993·American Journal of Medical Genetics·J L ZackowskiC A Williams
Apr 1, 1993·American Journal of Medical Genetics·R D Nicholls
Aug 8, 2014·American Journal of Medical Genetics. Part a·Yukiko KurodaKenji Kurosawa

Citations

Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Oct 1, 1991·American Journal of Medical Genetics·J HamabeN Niikawa

Related Concepts

Royer Syndrome
GABA-A Receptor gamma Subunit
Partial Monosomy
Genealogical Tree

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.