Noonan syndrome

Noonan Syndrome and related disorders (rasopathies) are autosomal dominant congenital syndromes. These disorders are characterised by facial dysmorphism, a wide spectrum of cardiac disease, postnata...

Transferrin receptor 2 mutation

Prothrombin 20210 Gene Mutation

DubinJohnson Syndrome and Rotor's Syndrome

PostMI syndrome Dressler's syndrome

Older Fathers More Likely To Pass On Genetic Mutation To Their Children

Genetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children Scientists at USC have unlocked the mystery of why new ca...

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's pro...

Noonan Syndrome Diagnosis Sped Up By New Genetic Test

A new gene test will greatly improve the speed and clarity of diagnosis for a complex range of genetic disorders, known as rasopathies, including Noonan Syndrome. The new test has been developed by m...

FDA approves KRAS gene mutation test for colorectal cancer

The U.S. Food and Drug Administration today approved the first genetic test that can help some colorectal cancer (CRC) patients and their doctors determine if the drug Erbitux (cetuximab) would be an...

Noonan Syndrome Helped Long Term by Growth Hormone (CME/CE)

WASHINGTON (MedPage Today) -- Children with the genetic disorder Noonan syndrome, characterized by short stature and organ abnormalities, had a more lasting response to growth hormone therapy than did...

KRAS Mutation in CRC and No Cetuximab? Not Necessarily

Dr. Maurie Markman looks at new data suggesting that cetuximab can improve outcomes in patients with colorectal cancer and the specific KRAS mutation G13D. Medscape Hematology-Oncology

New Genetic Test Will Mean Faster Diagnosis Of Noonan Syndrome Disorders

A new gene test will greatly improve the speed and clarity of diagnosis for a complex range of genetic disorders known as RASopathies. The new test has been developed by molecular diagnostic testing...

Genetic Test Improves Noonan Syndrome Diagnosis

A new one-step test provides large-scale parallel screening of all 12 genes associated with Noonan disorders in one panel.

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.

Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We rep...

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in PTPN11, RAF1, SOS1, KRAS, and NRAS...

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype.

OBJECTIVE: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. METHODS: We searched our Fetal Medicine Unit records for all cases with a...

KRAS assay selection: sensitivity and accuracy in clinical application.

KRAS mutation status is routinely tested before the administration of chemotherapeutic agents that target EGFR such as cetuximab and panitumumab. Various commercial assays to analyze KRAS mutational s...

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.

OBJECTIVE: Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that va...