Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. Its symptoms can be observed during fetal life, but most of them are not specific for Noonan ...
Allelic disorders, stemming from mutations in the NF1 gene, can manifest clinically across a spectrum, ranging from Neurofibromatosis type 1 to Noonan syndrome. Due to a pathogenic variant in the NF1 gene, a 7-year-old Iranian girl exhibits the characteristics of Neurofibromatosis-Noonan syndrome....
select article rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice Research articleOpen access rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice Hao-Cheng Chang...
Barish GD, Narkar VA & Evans RM 2006 PPAR delta: a dagger in the heart of the metabolic syndrome. Journal of Clinical Investigation 116 590–597. PubMed Search Google Scholar Export Citation Baxter JD & Webb P 2009 Thyroid hormone mimetics: potential applications in atherosclerosis, obesity and...
Noonan syndrome is a developmental disorder which is characterized by ocular, facial, cardiac, and dental anomalies. The etiology of Noonan syndrome is unknown. This may result due to either complete or partial absence of an X-chromosome or could be genetic effect. Dental features of the Noonan...
Part II covers growth hormone, insulin-like growth factor 1, strategies for maximizing growth in puberty in children with short stature, nutrition and bone/growth plate/growth, diabetes insipidus, Turner/Noonan Syndrome, hormone replacement in hypogonadal states, fertility preservation, CAH-C-NC from...
Broadly defined RASopathy syndromes include Noonan's (NS) and DiGeorge (22q11.2 del) syndromes that are associated with distinct craniofacial, neurobehavioral, and cardiac features. While each syndrome or disease under this umbrella term of RASopathies might be considered rare, together they affect ...
Part II covers growth hormone, insulin-like growth factor 1, strategies for maximizing growth in puberty in children with short stature, nutrition and bone/growth plate/growth, diabetes insipidus, Turner/Noonan Syndrome, hormone replacement in hypogonadal states, fertility preservation, CAH-C-NC from...
Noonan syndrome (NS) is an autosomal dominant syndrome characterized by typical dysmorphic features, cardiac anomalies as well as postnatal growth retardation, and is associated with Ras-MAPK pathway gene mutations. The purpose of this study was to improve the diagnosis of Chilean patients with ...
(1986) International Journal of Oral & Maxillofacial Surgery 15, 752-755VAN DAMME PhA.; MOOREN REC. Differentiation of multiple giant cell lesions, Noonan-like syndrome, and (occult) hyperparathyroidism. Case report and review of the literature. International Journal of Oral Maxillofacial Surgery. v...