GeneReviews®[Internet]
MP Adam, J Feldman, GM Mirzaa, RA Pagon… - 1993 - pubmed.ncbi.nlm.nih.gov
GeneReviews, an international point-of-care resource for busy clinicians, provides clinically
relevant and medically actionable information for inherited conditions in a standardized …
relevant and medically actionable information for inherited conditions in a standardized …
[PDF][PDF] A dyadic approach to the delineation of diagnostic entities in clinical genomics
LG Biesecker, MP Adam, FS Alkuraya… - The American Journal of …, 2021 - cell.com
The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …
characterization of diseases provide opportunities to designate diseases in a biologically …
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology
GM Mirzaa, A Poduri - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that
occurs due to either increased number or size of neurons and glial cells. The former may be …
occurs due to either increased number or size of neurons and glial cells. The former may be …
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivičre, GM Mirzaa, BJ O'Roak, M Beddaoui… - Nature …, 2012 - nature.com
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …
including hemimegalencephaly and focal cortical dysplasia, are common causes of …
[PDF][PDF] A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
Invertebrate model systems are powerful tools for studying human disease owing to their
genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal …
genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal …
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
GM Mirzaa, CD Campbell, N Solovieff, CP Goold… - JAMA …, 2016 - jamanetwork.com
Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …
constitute a spectrum of malformations of cortical development with shared neuropathologic …
Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: two closely related disorders …
GM Mirzaa, RL Conway, KW Gripp… - American Journal of …, 2012 - Wiley Online Library
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to
rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the …
rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the …
Megalencephaly syndromes and activating mutations in the PI3K‐AKT pathway: MPPH and MCAP
GM Mirzaa, JB RIVIČRE… - American Journal of …, 2013 - Wiley Online Library
The megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) and
megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and …
megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and …
[PDF][PDF] Functional dysregulation of CDC42 causes diverse developmental phenotypes
S Martinelli, OHF Krumbach, F Pantaleoni… - The American Journal of …, 2018 - cell.com
Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian
disorders, particularly for individuals in whom a known clinical entity could not be assigned …
disorders, particularly for individuals in whom a known clinical entity could not be assigned …