Your Messages Inbox
Most Viewed Abstracts
1. Report Shows Shift in Starting Salaries for Physicians 2. AHA Guidelines on Cardiac CT for Assessing Coronary Artery Disease 3. Rapid correction of low vitamin D status in nursing home residents 4. 2008 Exclusive Survey—Earnings: Good news for primary care income 5. Medicare pay-for-reporting effort draws fire from frustrated doctors
Your Article Summary
See Latest ArticlesSomatic and germ-line mosaicism in Rubinstein-Taybi syndrome
American Journal of Medical Genetics, 06/19/09
Chiang PW et al. - The authors hypothesize mutations in CREBBP in these two families occur in the postzygotic stage in one of the parents (one generation ahead) of the affected individual. Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients.
Related Articles
Mosaicism and haemophilia
Haemophilia, 11/05/09
Relevance Score: 91%
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles
Ophthalmology, 11/09/09
Relevance Score: 83%
A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism
Journal of Child Neurology, 10/26/09
Relevance Score: 83%
Cytogenetic analysis of human embryos and embryonic stem cells derived from monopronuclear zygotes
Journal of Assisted Reproduction and Genetics, 11/09/09
Relevance Score: 80%
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Journal of Medical Genetics, 11/10/09
Relevance Score: 77%
Today in Basic Science/Genetics...keeping you current
Receive free subspecialty "5-minute updates" via email
Genetic Variation at the FTO Locus Influences RBL2 Gene Expression
Diabetes, 12/18/09
Absence of BRAF, NRAS, KRAS, HRAS Mutations, and RET/PTC Gene Rearrangements Distinguishes Dominant Nodules in Hashimoto Thyroiditis from Papillary Thyroid Carcinomas
Endocrine Pathology, 12/18/09
A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency
Diabetes, 12/18/09
Today in Reproductive Endocrinology...keeping you current
Receive free subspecialty "5-minute updates" via email
A new FSHbeta mutation in a 29 year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH
European Journal of Endocrinology, 12/18/09
Associations of Birthweight and Gestational Age with Reproductive and Metabolic Phenotypes in Women with Polycystic Ovarian Syndrome and Their First-Degree Relatives
Journal of Clinical Endocrinology and Metabolism, 12/17/09
Metformin Reduces Arterial Stiffness and Improves Endothelial Function in Young Women with Polycystic Ovary Syndrome: A Randomized, Placebo-Controlled, Crossover Trial
Journal of Clinical Endocrinology and Metabolism, 12/17/09
Sponsor
Article Search
Sponsor
Sponsor