Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

(2016) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway

(2016) Judith E. Allanson   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

(2016) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

(2016) Sian E Piret et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent advances in RASopathies

(2015) Yoko Aoki et al.   JOURNAL OF HUMAN GENETICS

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Expanding the mutational spectrum of LZTR1 in schwannomatosis

(2014) Irene Paganini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection

(2013) Song-Ro Yoon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

(2013) Shinji Kunishima et al.   PEDIATRICS INTERNATIONAL

Cardiac Findings in Noonan Syndrome on Long-term Follow-up

(2013) John L. Colquitt et al.   Congenital Heart Disease

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Malignant Diseases in Noonan Syndrome and Related Disorders

(2009) Henrik Hasle   HORMONE RESEARCH