Results 101 to 110 of about 67,545 (327)
, 2008 Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Armstrong, D.L. +20 more
core +1 more source
Does measurement technique explain the mismatch between European head size and WHO charts? [PDF]
, 2016 Objective To test whether different measuring techniques produce systematic differences in head size that could explain the large head circumferences found in Northern European children compared with the WHO standard.
Bremner, Morven +3 more
core +1 more source
The Anatomical Record, EarlyView.Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin +9 more
wiley +1 more source
Mutations in
BMC Neurology, 2011 Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif +7 more
doaj +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
core
Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta
The Anatomical Record, EarlyView.Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller +2 more
wiley +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
The PP2A‐B56 Binding Site LxxIxE Contributes to Asp‐Mediated Spindle Pole Stability
Cytoskeleton, EarlyView.ABSTRACT The organization of microtubules into a mitotic spindle is critical for animal cell proliferation and involves the cooperation of hundreds of proteins whose molecular roles and regulation are not fully understood. The protein product of the Drosophila gene abnormal spindle, Asp, is a microtubule‐associated protein required for correct mitotic ...
Margaux Quiniou +6 more
wiley +1 more source
Population surveillance for microcephaly [PDF]
BMJ, 2016 Surveillance is an essential part of the response to Zika and must be ...
openaire +3 more sources