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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
Bober MB, Jackson AP. Bober MB, et al. Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. Curr Osteoporos Rep. 2017. PMID: 28409412 Free PMC article. Review.
PURPOSE OF THE REVIEW: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primo
PURPOSE OF THE REVIEW: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide th …
Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X. Su T, et al. Oral Dis. 2023 Sep;29(6):2376-2393. doi: 10.1111/odi.14589. Epub 2023 Apr 24. Oral Dis. 2023. PMID: 37094075 Review.
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome …
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumor …
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.
Perry LD, Robertson F, Ganesan V. Perry LD, et al. Pediatr Neurol. 2013 Apr;48(4):294-8. doi: 10.1016/j.pediatrneurol.2012.12.010. Pediatr Neurol. 2013. PMID: 23498563 Review.
Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the ad
Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recess
Consequences of Centrosome Dysfunction During Brain Development.
Nano M, Basto R. Nano M, et al. Adv Exp Med Biol. 2017;1002:19-45. doi: 10.1007/978-3-319-57127-0_2. Adv Exp Med Biol. 2017. PMID: 28600781 Review.
Autosomal recessive primary microcephaly (MCPH), primordial dwarfism disease Seckel syndrome (SCKS) and microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) are often connected to mutations in centrosomal genes. ...
Autosomal recessive primary microcephaly (MCPH), primordial dwarfism disease Seckel syndrome (SCKS) and microcephalic osteodysplas
Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.
Sam C, Li FF, Liu SL. Sam C, et al. Metab Brain Dis. 2015 Oct;30(5):1105-16. doi: 10.1007/s11011-015-9668-y. Epub 2015 Apr 21. Metab Brain Dis. 2015. PMID: 25893882 Review.
Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or …
Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism
Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency.
Kerzendorfer C, O'Driscoll M. Kerzendorfer C, et al. DNA Repair (Amst). 2009 Sep 2;8(9):1139-52. doi: 10.1016/j.dnarep.2009.04.018. Epub 2009 May 26. DNA Repair (Amst). 2009. PMID: 19473885 Review.
We will describe recent advances in further delineating the genetic basis of Seckel syndrome and microcephalic osteodysplastic primordial dwarfism type II, which have shed more light on the interplay between the DDR, cycle progression and …
We will describe recent advances in further delineating the genetic basis of Seckel syndrome and microcephalic osteodysplastic