Latest papers

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome.

GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism

[Noonan syndrome with atrial septal defect and hypertrophic cardiomyopathy].

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

Genotype differences in cognitive functioning in Noonan syndrome.

A case of Noonan syndrome and Whipple's disease in the same patient.

Successful cardiac transplantation in a patient with elevated pulmonary vascular resistance: a relative contraindication to transplantation.

[Myopia in systemic disorders].

[Children with body length deficiency at birth and at risk of growth deficiency since childhood].

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Height Gains in Response to Growth Hormone Treatment to Final Height Are Similar in Patients with SHOX Deficiency and Turner Syndrome

Leopard syndrome and Chiari type I malformation: a case report and review of the literature.

Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

Congenital heart diseases associated with identified syndromes and other extra-cardiac congenital malformations in children in Lagos.

No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes.

Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.