ALLMedicine™ Noonan Syndrome Center

May 17th, 2022 - Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. The main objective of this study was to assess the presence and character...

May 4th, 2022 - Src homology-2-containing protein tyrosine phosphatase 2 (SHP2) is a ubiquitously expressed, non-receptor protein tyrosine phosphatase encoded by the PTPN11 gene. Gain-of-function (GOF) mutations in PTPN11 are associated with the development of va...

Apr 28th, 2022 - Cardiovascular disease is one of the most important problems in long-term follow-up for Noonan syndrome. We examined cardiovascular issues and clinical manifestations, with a focus on the cardiovascular disease and prognosis of patients with Noona...

Apr 22nd, 2022 - Practice Essentials Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenit...

Apr 20th, 2022 - Hebbian-type synaptic plasticity which includes long term potentiation (LTP) and long term depression (LTD), is the main cellular mechanism underlying learning and memory. Effective activity and synaptic content of tyrosine phosphatase SHP2 are re...

Apr 1st, 2022 - Noonan syndrome is a rare autosomal dominant genetic disorder characterized by a combination of typical facial features, heart defects, short stature, skeletal abnormalities, mild developmental delay and a predisposition to myeloproliferative diso...

Feb 3rd, 2022 - The purpose of this study is to collect information about safety and effectiveness for long term use of Norditropin®. Participants will attend the medical institution according to usual practice and receive medical care, as agreed with the study d...

Nov 9th, 2020 - Noonan syndrome (NS) is a relatively frequent autosomal dominant disorder characterised by facial dysmorphic features, heart defects, developmental delay, and short stature. This syndrome is mostly caused by gain-of-function mutations in the PTPN1...

Aug 10th, 2020 - This trial is conducted in Asia. The aim of the trial is to investigate the long-term efficacy and safety of two doses of NN-220 (somatropin) in short stature due to Noonan syndrome.

Aug 24th, 2021 - A previously healthy infant who survived sudden cardiac arrest at home was later found to have a de novo likely pathogenic genetic mutation in the SOS1 gene, which might be an unrecognized cause of sudden infant death, report clinicians from Misso...

Apr 12th, 2021 - Prenatal diagnosis has expanded from identification of aneuploidy to include copy number variants detected on microarray (such as 22q11 deletion syndrome) and now single-gene disorders identified by targeted or exome and genome sequencing. How and.

Oct 9th, 2015 - Colony of iPSCs Image from the Salk Institute Researchers have used induced pluripotent stem cells (iPSCs) to model juvenile myelomonocytic leukemia (JMML) and gain new insight into the disease. The team noted that somatic PTPN11 mutations are kno.

Sep 22nd, 2015 - The American College of Obstetricians and Gynecologists is calling on ob. gyns.

Dec 23rd, 2010 - December 23, 2010 — The US Food and Drug Administration (FDA) is looking into results from a French study that found that persons with idiopathic growth hormone deficiency and idiopathic or gestational short stature who were treated with long-term...