scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.38347 |
P698 | PubMed publication ID | 28686357 |
P50 | author | Tamar Harel | Q88470228 |
Amihood Singer | Q125174025 | ||
P2093 | author name string | Avraham Shaag | |
Orly Elpeleg | |||
Vardiella Meiner | |||
Moshe Gomori | |||
Nuphar Hacohen | |||
P2860 | cites work | The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress | Q24336121 |
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
A developmental and genetic classification for malformations of cortical development: update 2012 | Q26858999 | ||
Death Domain Assembly Mechanism Revealed by Crystal Structure of the Oligomeric PIDDosome Core Complex | Q27643768 | ||
Genetic Basis of Brain Malformations | Q28076998 | ||
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats | Q28261729 | ||
RAIDD is a new 'death' adaptor molecule | Q28300622 | ||
Genetic mapping and exome sequencing identify variants associated with five novel diseases | Q28478905 | ||
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Malformations of Cortical Development: From Postnatal to Fetal Imaging | Q31133197 | ||
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). | Q34468937 | ||
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Caspase-2 deficiency enhances aging-related traits in mice | Q35688389 | ||
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Impaired antioxidant defence and accumulation of oxidative stress in caspase-2-deficient mice | Q36084482 | ||
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly | Q37304298 | ||
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant | Q37396889 | ||
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations | Q38739393 | ||
Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. | Q43072719 | ||
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. | Q49022984 | ||
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? | Q57386634 | ||
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis | Q57529928 | ||
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities | Q57839567 | ||
Preimplantation genetic diagnosis of DiGeorge syndrome | Q58862063 | ||
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | lissencephaly | Q1544416 |
homozygosity | Q114049690 | ||
P304 | page(s) | 2539-2544 | |
P577 | publication date | 2017-07-07 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly | |
P478 | volume | 173 |
Q104795021 | Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability |
Q99207720 | International consensus recommendations on the diagnostic work-up for malformations of cortical development |
Q58716570 | Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability |
Q92637637 | Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population |
Q90578938 | Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D |
Q94948758 | Uncovering the PIDDosome and caspase-2 as regulators of organogenesis and cellular differentiation |
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