Gene Discovered That Causes Kabuki Syndrome
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Gene Discovered That Causes Kabuki Syndrome
View full resource at medicalnewstoday.com
Tags: Genetic, Neurology, Disease and Condition, Genes, Children's Health, Scientist
Most Recently Shared on August 16, 2010 at 3:01 pm By:
Gene Discovered That Causes Kabuki Syndrome http://mnt.to/3Hpp #pediatrics
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Scientists discover new candidate gene for Dravet syndrome
news-medical.net — “Dravet syndrome is a severe genetic epilepsy that appears early in life. About 75 percent of cases can be attributed to mutations in the SCN1A gene encoding the sodium channel NaV1.1. The remaining patients with this syndrome are without a definitive molecular genetic diagnosis. Research presented today at the American Epilepsy Society's 65th Annual Meeting has found a non-SCN1A candidate gene and suggests that Dravet syndrome may be caused by any one of a number of yet unidentified genes.” View full resource at news-medical.net
Most Recently Shared on December 5, 2011 at 4:08 pm By:
Epilepsy News: Scientists discover new candidate gene for Dravet syndrome: Dravet syndrome is a severe genetic e... http://t.co/UoPGt0Pg
Gene mutation shown to cause leukemia and lymphedema
sciencedaily.com — “Researchers have discovered a gene that when mutated can cause lymphedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukemia. The identification of the gene responsible for causing this rare combination of medical conditions, known as Emberger syndrome, could allow earlier identification and treatment of those at risk.” View full resource at sciencedaily.com
Most Recently Shared on September 7, 2011 at 1:35 pm By:
#Gene mutation shown to cause #leukemia & #lymphedema: #raredisorder http://t.co/mT8bSzc via @AddThis
Gene mutation shown to cause leukemia and lymphedema
sciencedaily.com — “Researchers have discovered a gene that when mutated can cause lymphedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukemia. The identification of the gene responsible for causing this rare combination of medical conditions, known as Emberger syndrome, could allow earlier identification and treatment of those at risk.” View full resource at sciencedaily.com
Most Recently Shared on September 6, 2011 at 12:13 pm By:
Jamie Inman M.A., LMFT Therapist and ePatient
Gene mutation shown to cause leukemia and lymphedema http://t.co/WJnXGFN via @addthis
Gene mutation shown to cause leukaemia and lymphoedema - QualityPoint Technologies
qualitypointtech.net — “Researchers have discovered a gene that when mutated can cause lymphoedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukaemia. The identification of the gene responsible for causing this rare combination of medical conditions, known as Emberger syndrome, could allow earlier identification and treatment of those at risk.” View full resource at qualitypointtech.net
Most Recently Shared on September 5, 2011 at 10:00 am By:
Gene mutation shown to cause leukaemia and lymphoedema: Researchers have discovered a gene that when mutated can c... http://t.co/702heyD
Scientists find elusive gene responsible for rare congenital disease
medicalxpress.com — “A Franco-British team of researchers has discovered a mysterious gene responsible for the extremely rare congenital Grey Platelet Syndrome that causes a bleeding disease. Only 50 cases have been reported to date. The team hopes that the results of their study will lead to the development of a DNA (deoxyribonucleic ...” View full resource at medicalxpress.com
Most Recently Shared on August 23, 2011 at 3:03 pm By:
PhysOrg Health News Health News
Scientists find elusive gene responsible for rare congenital disease http://t.co/YWAWCRn
Genetic basis of rare human diseases described
sciencedaily.com — “Researchers have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.” View full resource at sciencedaily.com
Most Recently Shared on July 10, 2011 at 1:17 am By:
Genetic basis of #rare human #diseases described: http://t.co/rlQVauq via @AddThis #gene
Gene That Causes Intellectual Disability Discovered
disabled-world.com — “New gene connected with a type of intellectual disability called Joubert syndrome discovered” View full resource at disabled-world.com
Most Recently Shared on May 13, 2011 at 10:25 pm By:
Disabled World Health Advocate and Health News
Gene That Causes Intellectual Disability Discovered http://ff.im/-DiXlQ
CAMH researcher discovers new gene that causes intellectual disability
eurekalert.org — “A new study involving Canada's Centre for Addiction and Mental Health has found a gene connected with a type of intellectual disability called Joubert syndrome. CAMH Senior Scientist Dr. John Vincent has identified this gene that, when defective, leads to Joubert syndrome. This research is published in the May 13 issue of Cell.” View full resource at eurekalert.org
Most Recently Shared on May 12, 2011 at 5:31 pm By:
CAMH researcher discovers new gene that causes intellectual disability: A new study involving Canada's Centre fo... http://bit.ly/jPZXn5
New gene that causes intellectual disability discovered
medicalxpress.com — “A new study involving Canada's Centre for Addiction and Mental Health (CAMH) has found a gene connected with a type of intellectual disability called Joubert syndrome.” View full resource at medicalxpress.com
Most Recently Shared on May 12, 2011 at 4:40 pm By:
PhysOrg Health News Health News
New gene that causes intellectual disability discovered http://tw.medicalxpress.com/224422238
Gene responsible for severe osteoporosis disorder discovered
sciencedaily.com — “Scientists have identified a single mutated gene that causes Hajdu-Cheney syndrome, a disorder of the bones causing progressive bone loss and osteoporosis.” View full resource at sciencedaily.com
Most Recently Shared on March 7, 2011 at 9:40 pm By:
Gene responsible for severe osteoporosis disorder discovered? http://fb.me/QJFuTHIe
Genetic deletion discovered as risk factor for autism and schizophrenia
eurekalert.org — “Researchers have identified the deletion of a genomic region on chromosome 17 as a significant risk factor for autism spectrum disorders and schizophrenia. A mutation of one of the genes in the deleted interval already is a known cause of renal cysts and diabetes syndrome.” View full resource at eurekalert.org
Most Recently Shared on November 4, 2010 at 11:10 pm By:
Peter H Brown Doctor and Psychologist
Genetic deletion discovered as risk factor for autism and schizophrenia http://bit.ly/9cspRt #autism
Genetic deletion discovered as risk factor for autism and schizophrenia
eurekalert.org — “Researchers have identified the deletion of a genomic region on chromosome 17 as a significant risk factor for autism spectrum disorders and schizophrenia. A mutation of one of the genes in the deleted interval already is a known cause of renal cysts and diabetes syndrome.” View full resource at eurekalert.org
Most Recently Shared on November 4, 2010 at 5:03 pm By:
Genetic deletion discovered as risk factor for autism and schizophrenia: ( Emory University ) Researchers have ide... http://bit.ly/b63Bn9
Another Study Links Mouse Retroviruses To Chronic Fatigue - QualityPoint Technologies
qualitypointtech.net — “Another study by US researchers has discovered gene sequences of a family of mouse retroviruses in a high proportion of patients with Chronic Fatigue Syndrome (CFS), a serious systemic illness of unknown cause, also known as Myalgic Encephalomyelitis (ME); the researchers also found the same gene sequences in a small proportion of healthy blood donors...” View full resource at qualitypointtech.net
Most Recently Shared on August 24, 2010 at 1:48 pm By:
Another Study Links Mouse Retroviruses To Chronic Fatigue: Another study by US researchers has discovered gene seq... http://bit.ly/aJ3VJD
Researchers discover genetic alterations responsible for Kabuki syndrome
news-medical.net — “Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.” View full resource at news-medical.net
Most Recently Shared on August 16, 2010 at 11:05 am By:
Genetics News: Researchers discover genetic alterations responsible for Kabuki syndrome: Using a new, rapid and le... http://bit.ly/bxLCns
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