Results 131 to 140 of about 2,361 (178)

RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments. [PDF]

Curr Cardiol Rev
Garg K, Trehan S, Fredrick F, Singla A, Aggarwal K, Gupta A, Jain R.   +6 more
europepmc   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]

J Dermatol
Okamura K, Suzuki T.
europepmc   +1 more source

EndoCompass Project: Research Roadmap for Growth Disorders.

Horm Res Paediatr
Gevers EF, Hokken-Koelega AC, Tauber M, Binder G, Bochukova EG, Bouret SG, Caixàs A, Davies JH, Dauber A, Edouard T, Eggermann T, Giabicani E, Netchine I, Nilsson O, Saravinovska K, van der Steen M, Tartaglia M, Tatton-Brown K, Temple IK, Yart A, Zenker M.   +20 more
europepmc   +1 more source

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report. [PDF]

Clin Case Rep
Nilsson CN, Aljohani OA, Smith MA, Durand R, Sheyanth IN, Nawaytou H, Stieglitz E, Valle R, Datar SA.   +8 more
europepmc   +1 more source

The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study. [PDF]

Prenat Diagn
Allen VM, Arts HH, Schollenberg E, Kinley S, Aberg E, Brock JK.   +5 more
europepmc   +1 more source

In Reply to Letter by Mr Erdal Şeker: "Fetal Dilated Jugular Lymphatic Sacs on First Trimester Ultrasound and Their Implications in Antenatal Screening".

Fetal Diagn Ther
Rusu R, Rolnik DL, Fantasia I.
europepmc   +1 more source

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Endocrinological manifestations in RASopathies

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2022
AbstractThe evaluation of endocrine involvement in RASopathies is important for the care and follow‐up of patients affected by these conditions. Short stature is a cardinal feature of RASopathies and correlates with multiple factors. Growth hormone treatment is a therapeutic possibility to improve height and quality of life.
Andrea Pession, Federica Tamburrino, Laura Mazzanti   +2 more
exaly   +3 more sources