ALLMedicine™ Noonan Syndrome Center

Jun 24th, 2022 - Background: RASopathies are a group of neurodevelopmental genetic conditions caused by mutations affecting components within the RAS-map kinase (RAS-MAPK) cellular signaling pathway. Caregivers of children with a RASopathy are faced with numerous ...

Jun 20th, 2022 - The authors describe a 5-year-old girl who developed a Noonan syndrome-like disorder as a result of the CBL c.1194C>G/p.His398Gln variant, including headache, papilledema, intracranial hypertension, hyperproteinorrhachia, leucorrhachia, and brain ...

Jun 19th, 2022 - Perioperative anaphylaxis to fibrin sealants in children with Noonan syndrome: Is this a new disease or a new mechanism for anaphylaxis?|2022|Kelly KJ,|prevention & control,

Jun 12th, 2022 - Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics o...

Jun 7th, 2022 - Valvar pulmonary stenosis (vPS) accounts for 8% to 12% of congenital heart disease cases. Multiple genetic syndromes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases. We analyzed genomic data from a la...

Jun 24th, 2022 - Background: RASopathies are a group of neurodevelopmental genetic conditions caused by mutations affecting components within the RAS-map kinase (RAS-MAPK) cellular signaling pathway. Caregivers of children with a RASopathy are faced with numerous ...

May 24th, 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...

May 18th, 2022 - The project is targeting cognitive impairment, one of the main health problems of patients with RAS pathway disorders. The aim of this study is to translate findings of animal studies to humans. This has been done by the applicants successfully fo...

Apr 15th, 2022 - The study compares two medicines for treatment of children born small and who stay small, or with Turner Syndrome, Noonan Syndrome, or idiopathic short stature. The purpose of the study is to see how well treatment with somapacitan works compared ...

Apr 7th, 2022 - This is a non-interventional registry of children treated with Norditropin® for short stature due to Noonan Syndrome (NS). This study aims to provide data on long-term growth evolution and safety of Norditropin® as well as Health Related Quality o...

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.

Feb 28th, 2018 - PRENATAL SCREENING FOR SINGLE-GENE DISORDERS Vistara®, a non-invasive prenatal test (NIPT) from Natera, Inc, screens for single-gene disorders after 9 weeks’ gestation. Complementing the Panorama® NIPT, Vistara tests for major anatomic abnormaliti.

Oct 28th, 2016 - Mouse bone marrow showing MSPCs with mutant PTPN11 (red) and monocytes (green). Image courtesy of Dong et al, Nature 2016 New research published in Nature has shown how certain mutations drive the development of myeloproliferative neoplasms (MPNs).

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.