Condition: MACROCEPHALY/AUTISM SYNDROME


rs1057519368 in PTEN gene and MACROCEPHALY/AUTISM SYNDROME PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 9832032 1998 Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.

PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.