More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

Objective: The aim was to formulate clinical practice guidelines for pheochromocytoma and
paraganglioma (PPGL). Participants: The Task Force included a chair selected by the …

Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Paragangliomas and phaeochromocytomas are neuroendocrine tumours whose
pathogenesis and progression are very strongly influenced by genetics. A germline mutation …

The RASopathies are a clinically defined group of medical genetic syndromes caused by
germline mutations in genes that encode components or regulators of the Ras/mitogen …

The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL
characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 …

The neuroendocrine tumours pheochromocytomas and paragangliomas carry the highest
degree of heritability in human neoplasms, enabling genetic alterations to be traced to …