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Quoted phrase not found in phrase index: "Basal ganglia calcification, idiopathic, 5"
Page 1
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group. Nicolas G, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26129893
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. ...Patients with an early clinical onset exhibited mostly isolated psychiatric or cognitive signs, while patients with …
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neurops …
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW. Kim JH, et al. Clin Endocrinol (Oxf). 2015 Dec;83(6):790-6. doi: 10.1111/cen.12944. Epub 2015 Oct 19. Clin Endocrinol (Oxf). 2015. PMID: 26384470
Other aetiologies included hypoparathyroidism-deafness-renal dysplasia syndrome (5/37, 13.5%) and one patient each with autoimmune polyglandular syndrome type 1, Kearns-Sayre syndrome and Kenny-Caffey syndrome. The remaining 7 (18.9%) patients were classified as idiopathic …
Other aetiologies included hypoparathyroidism-deafness-renal dysplasia syndrome (5/37, 13.5%) and one patient each with autoimmune polygland …
Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism.
Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N. Bhadada SK, et al. Neurol India. 2011 Jul-Aug;59(4):586-9. doi: 10.4103/0028-3886.84342. Neurol India. 2011. PMID: 21891938 Free article.
We describe clinical, biochemical, radiological profile, and treatment outcome in 97 patients with idiopathic hypoparathyroidism seen over a period of 18 years. Of the 97 patients, 78 (80%) had idiopathic hypoparathyroidism and 19 (20%) had pseudohypoparathyroidism. …
We describe clinical, biochemical, radiological profile, and treatment outcome in 97 patients with idiopathic hypoparathyroidism seen …
Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.
Takase N, Inden M, Sekine SI, Ishii Y, Yonemitsu H, Iwashita W, Kurita H, Taketani Y, Hozumi I. Takase N, et al. Sci Rep. 2017 Jul 18;7(1):5768. doi: 10.1038/s41598-017-06406-6. Sci Rep. 2017. PMID: 28720798 Free PMC article.
Recently, SLC20A2 mutations have been found in patients with idiopathic basal ganglia calcification (IBGC), and were predicted to bring about an inability to transport Pi from the extracellular environment. ...
Recently, SLC20A2 mutations have been found in patients with idiopathic basal ganglia calcification (IBGC), and …
Computed tomography of basal ganglia calcifications in pseudo- and idiopathic hypoparathyroidism.
Fukunaga M, Otsuka N, Ono S, Kajihara Y, Nishishita S, Nakano Y, Yamamoto I, Torizuka K, Morita R. Fukunaga M, et al. Radiat Med. 1987 Nov-Dec;5(6):187-90. Radiat Med. 1987. PMID: 3452848
The relative sensitivity of computed tomography (CT) and conventional skull radiography in detecting basal ganglia calcifications was studied in two patients with PHP and six with IHP. ...Furthermore, patients with more prolonged hypocalcemia showed a higher …
The relative sensitivity of computed tomography (CT) and conventional skull radiography in detecting basal ganglia calcific …
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. Schwarzbraun T, et al. Genomics. 2004 Sep;84(3):577-86. doi: 10.1016/j.ygeno.2004.04.013. Genomics. 2004. PMID: 15498464
Additionally we searched for mutations in the coding region of TULIP1 in subjects from a family with idiopathic basal ganglia calcification (IBGC; Fahr disease), previously linked to chromosome 14q. We identified two novel SNPs in the intron-exon bound …
Additionally we searched for mutations in the coding region of TULIP1 in subjects from a family with idiopathic basal gangl …
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism.
Preusser M, Kitzwoegerer M, Budka H, Brugger S. Preusser M, et al. Neuropathology. 2007 Oct;27(5):453-6. doi: 10.1111/j.1440-1789.2007.00790.x. Neuropathology. 2007. PMID: 18018479
Recently, a family with idiopathic brain calcification was reported, in which one family member was diagnosed with multiple system atrophy (MSA) at autopsy. ...She died of myocardial infarction aged 65 years. Neuropathology showed severe brain calcifications …
Recently, a family with idiopathic brain calcification was reported, in which one family member was diagnosed with multiple sy …