RASopathies Latest Advances

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement.

Journal: JAMA network open

Published: October 15, 2025

Central Conducting Lymphatic Abnormalities in Noonan Syndrome Identified Using SPECT/CT Lymphoscintigraphy.

Journal: Nuklearmedizin. Nuclear medicine

Published: September 30, 2025

T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 26, 2025

Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.

Journal: Cureus

Published: August 28, 2025

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 25, 2025

A Noonan Syndrome Mimicking Acute Coronary Syndrome.

Journal: Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir

Published: August 01, 2025

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Journal: Rinsho shinkeigaku = Clinical neurology

Published: July 24, 2025

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 22, 2025

Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: July 10, 2025

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Journal: American journal of medical genetics. Part A

Published: July 10, 2025

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Journal: Translational pediatrics

Published: July 05, 2025

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Journal: The American Journal of dermatopathology

Published: June 26, 2025

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Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement.

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement.

Central Conducting Lymphatic Abnormalities in Noonan Syndrome Identified Using SPECT/CT Lymphoscintigraphy.

Central Conducting Lymphatic Abnormalities in Noonan Syndrome Identified Using SPECT/CT Lymphoscintigraphy.

T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies.

T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies.

Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.

Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

A Noonan Syndrome Mimicking Acute Coronary Syndrome.

A Noonan Syndrome Mimicking Acute Coronary Syndrome.

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome.

Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.