Haploinsufficiency

Results: 23



#Item
1Haploinsufficiency / Compound heterozygosity / Genetic variation / Penetrance / Population genetics / Genomes Project / Genome-wide association study / Single-nucleotide polymorphism / Human genome / Biology / Genetics / Philosophy of biology

Clan Genomics and the Complex Architecture of Human Disease

Add to Reading List

Source URL: irvinginstitute.columbia.edu

Language: English - Date: 2015-01-14 10:34:21
2Genetics / Syndromes / Autism / Neurological disorders / Pervasive developmental disorders / Williams syndrome / Autism spectrum / Asperger syndrome / Haploinsufficiency / Health / Psychiatry / Medicine

Developmental changes in human dopamine neurotransmission: cortical receptors and terminators

Add to Reading List

Source URL: www.biomedcentral.com

Language: English
3Genodermatoses / Rare diseases / DNA replication / Telomerase / Dyskeratosis congenita / Haploinsufficiency / Anticipation / Revesz syndrome / Dyskerin / Health / Biology / Genetics

GeneDx 207 Perry Parkway Gaithersburg, MD[removed]Phone: [removed]Fax: [removed]E-mail: [removed]

Add to Reading List

Source URL: www.genedx.com

Language: English - Date: 2013-03-06 09:13:43
4Genetics / HESX1 / Septo-optic dysplasia / Hypopituitarism / Optic nerve hypoplasia / Homeobox / Posterior pituitary / Mutation / Haploinsufficiency / Biology / Transcription factors / Health

Title: PROP1-Related Combined Pituitary Hormone Deficiency GeneReview – HESX1 Variants Author: de Graaff L Date: August 2014 Note: The following information is provided by the authors listed above and has not been revi

Add to Reading List

Source URL: www.ncbi.nlm.nih.gov

Language: English
5Transcription factors / Genetics / Waardenburg syndrome / Rare diseases / PAX3 / Pax genes / Mutation / Tietz syndrome / Haploinsufficiency / Biology / Health / Syndromes

Downloaded from http://bmjopen.bmj.com/ on February 6, [removed]Published by group.bmj.com Open Access Research

Add to Reading List

Source URL: epub.ub.uni-muenchen.de

Language: English - Date: 2015-02-06 05:32:14
6Myelodysplastic syndrome / Syndromes / Myeloid leukemia / Genetics / Lenalidomide / Chromosome 5q deletion syndrome / Haploinsufficiency / 5Q / Acute myeloid leukemia / Oncology / Medicine / Health

fall 2008: volume 13, issue 2 newsletter of the myelodysplastic syndromes foundation From the Guest Editor’s Desk The Molecular Basis of the 5q- syndrome

Add to Reading List

Source URL: www.mds-foundation.org

Language: English - Date: 2013-09-19 18:49:48
7Myelodysplastic syndrome / Syndromes / Genetics / Acute myeloid leukemia / Hematologic neoplasms / Lenalidomide / International Prognostic Scoring System / Azacitidine / Haploinsufficiency / Medicine / Oncology / Myeloid leukemia

Innisbrook Copperhead #15 path

Add to Reading List

Source URL: www.mds-foundation.org

Language: English - Date: 2013-09-19 18:49:40
8Saccharomyces Genome Database / Haploinsufficiency / Genomics / Molecular genetics / Gene duplication / Gene / Human genome / Human genetic variation / Evolution / Biology / Genetics / Saccharomyces cerevisiae

COGEDE-1030; NO. OF PAGES 7 Available online at www.sciencedirect.com ScienceDirect Contemporary, yeast-based approaches to understanding human

Add to Reading List

Source URL: dunham.gs.washington.edu

Language: English - Date: 2013-11-25 18:49:30
9Carcinogenesis / Programmed cell death / Proteins / Apoptosis / DNA repair / Ataxia telangiectasia mutated / Mutation / P53 / Ataxia telangiectasia / Biology / Medicine / Tumor suppressor genes

Research Article Combined Haploinsufficiency for ATM and RAD9 as a Factor in Cell Transformation, Apoptosis, and DNA Lesion Repair Dynamics Lubomir B. Smilenov, Howard B. Lieberman, Stephen A. Mitchell, Ronald A. Baker,

Add to Reading List

Source URL: www.raraf.org

Language: English - Date: 2014-11-19 16:49:04
10Transcription factors / Apoptosis / P53 / Proteins / Thymus / FBXW7 / Mutation / Haploinsufficiency / Biology / Genetics / Tumor suppressor genes

Sequential mutations in Notch1, Fbxw7 and p53 in radiation-induced mousethymic lymphomas

Add to Reading List

Source URL: lowdose.energy.gov

Language: English - Date: 2012-02-28 17:55:24
UPDATE