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How Does Imaging of Congenital Zika Compare with Imaging of Other TORCH Infections?
Levine D, Jani JC, Castro-Aragon I, Cannie M. Levine D, et al. Radiology. 2017 Dec;285(3):744-761. doi: 10.1148/radiol.2017171238. Radiology. 2017. PMID: 29155634 Review.
The classic findings in patients with TORCH infections include rash in the mother during pregnancy and ocular findings in the newborn. Zika virus has emerged as an important worldwide congenital infection. It fits well with other congenital TORCH infections since th …
The classic findings in patients with TORCH infections include rash in the mother during pregnancy and ocular findings in the newborn. Zika …
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
Palma-Lara I, Pérez-Ramírez M, García Alonso-Themann P, Espinosa-García AM, Godinez-Aguilar R, Bonilla-Delgado J, López-Ornelas A, Victoria-Acosta G, Olguín-García MG, Moreno J, Palacios-Reyes C. Palma-Lara I, et al. Int J Mol Sci. 2021 Jul 27;22(15):8039. doi: 10.3390/ijms22158039. Int J Mol Sci. 2021. PMID: 34360805 Free PMC article. Review.
Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia characterized by generalized atherosclerosis with periosteal bone formation, characteristic facial dysmorphisms and intracerebr
Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic …
Oxidative stress in developmental brain disorders.
Hayashi M, Miyata R, Tanuma N. Hayashi M, et al. Adv Exp Med Biol. 2012;724:278-90. doi: 10.1007/978-1-4614-0653-2_21. Adv Exp Med Biol. 2012. PMID: 22411250 Review.
Here, we review our data on the hereditary DNA repair disorders, congenital metabolic errors and childhood-onset neurodegenerative disorders. First, in our studies on hereditary DNA repair disorders, increased oxidative DNA damage and lipid peroxidation were carried out in …
Here, we review our data on the hereditary DNA repair disorders, congenital metabolic errors and childhood-onset neurodegenerative di …
Spectrum of intracranial and spinal epidermoids including unusual locations and imaging findings: A pictorial review.
Nitheesha Reddy V, Nagarajan K, Midhusha Reddy V, Amuthabharathi M, Gopalakrishnan MS, Ramesh AS. Nitheesha Reddy V, et al. J Med Imaging Radiat Oncol. 2023 Feb;67(1):65-76. doi: 10.1111/1754-9485.13495. Epub 2022 Dec 5. J Med Imaging Radiat Oncol. 2023. PMID: 36468221 Review.
Less common locations include inter-hemispheric fissure, sylvian fissure, lateral ventricle, intracerebral, velum interpositum cistern, superior cerebellar cistern and pineal gland. ...In this pictorial review, we intend to illustrate their classical and unusual locations, …
Less common locations include inter-hemispheric fissure, sylvian fissure, lateral ventricle, intracerebral, velum interpositum cister …
The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. Tolmie JL, et al. J Med Genet. 1995 Nov;32(11):881-4. doi: 10.1136/jmg.32.11.881. J Med Genet. 1995. PMID: 8592332 Free PMC article. Review.
Aicardi-Goutieres syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosi …
Aicardi-Goutieres syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developme …
A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?
Wieczorek D, Gillessen-Kaesbach G, Passarge E. Wieczorek D, et al. Genet Couns. 1995;6(4):297-302. Genet Couns. 1995. PMID: 8775415 Review.
A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?: We present a nine-month-old boy with microcephaly, cataracts, int
A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observatio …