4.2 Review

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel B. Ramoni et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Genetics & Heredity

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

Kim M. Keppler-Noreuil et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Clinical Neurology

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

Mitsuko Nakashima et al.

ANNALS OF NEUROLOGY (2015)

Article Biochemistry & Molecular Biology

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Jae Seok Lim et al.

NATURE MEDICINE (2015)

Article Genetics & Heredity

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

Ghayda M. Mirzaa et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Review Medicine, General & Internal

PI3K/AKT signaling pathway and cancer: an updated review

Miriam Martini et al.

ANNALS OF MEDICINE (2014)

Review Neurosciences

rnTOR signaling and its roles in normal and abnormal brain development

Nobuyuki Takei et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2014)

Review Oncology

Targeting PI3K/Akt/mTOR signaling in cancer

Camillo Porta et al.

FRONTIERS IN ONCOLOGY (2014)

Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Review Biochemistry & Molecular Biology

mTOR: A pathogenic signaling pathway in developmental brain malformations

Peter B. Crino

TRENDS IN MOLECULAR MEDICINE (2011)

Review Cell Biology

Akt-dependent and -independent mechanisms of mTOR regulation in cancer

Regan M. Memmott et al.

CELLULAR SIGNALLING (2009)

Review Cell Biology

Expanding mTOR signaling

Qian Yang et al.

CELL RESEARCH (2007)