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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1985 1
1988 1
1990 1
1996 1
2001 1
2003 1
2004 1
2005 1
2013 2
2016 1
2019 2
2020 3
2021 3
2023 1
2024 0

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19 results

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Page 1
Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.
Mazoni L, Apicella M, Saponaro F, Mantovani G, Elli FM, Borsari S, Pardi E, Piaggi P, Marcocci C, Cetani F. Mazoni L, et al. J Clin Endocrinol Metab. 2021 Jul 13;106(8):e3005-e3020. doi: 10.1210/clinem/dgab208. J Clin Endocrinol Metab. 2021. PMID: 33780542
Intracerebral calcification occurred in 72% of patients with no difference among PHP1A and PHP1B subgroups. No significant difference was observed between patients with and without intracerebral calcification for the time-weighted average values of total serum calcium, pho …
Intracerebral calcification occurred in 72% of patients with no difference among PHP1A and PHP1B subgroups. No significant difference was …
Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
Zhang H, Lu Y, Kramer PR, Benson MD, Cheng YL, Qin C. Zhang H, et al. Neurosci Lett. 2023 Apr 1;802:137176. doi: 10.1016/j.neulet.2023.137176. Epub 2023 Mar 11. Neurosci Lett. 2023. PMID: 36914045
There was mild perifocal microgliosis as well as astrogliosis around calcospherites. The calcifications were first observed in the thalamus, and later in the forebrain and hindbrain. Furthermore, brain-specific deletion (mediated by Nestin-cre) of Fam20c in mice also led t …
There was mild perifocal microgliosis as well as astrogliosis around calcospherites. The calcifications were first observed in the th …
Recent developments in the understanding of the pathophysiology of osteopetrosis.
Felix R, Hofstetter W, Cecchini MG. Felix R, et al. Eur J Endocrinol. 1996 Feb;134(2):143-56. doi: 10.1530/eje.0.1340143. Eur J Endocrinol. 1996. PMID: 8630510 Review.
In humans, deficiency of carbonic anhydrase II has been identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. A lack of expression of the vacuolar proton pump has been observe …
In humans, deficiency of carbonic anhydrase II has been identified as the primary defect in the autosomal recessive syndrome of osteopetrosi …
MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
Bezerra DP, de Aguiar JP, Keasey MP, Rodrigues CG, de Oliveira JRM. Bezerra DP, et al. J Mol Neurosci. 2021 Sep;71(9):1897-1905. doi: 10.1007/s12031-021-01830-w. Epub 2021 May 27. J Mol Neurosci. 2021. PMID: 34041689
MicroRNA-9 (miR-9) modulates gene expression and demonstrates high structural conservation and wide expression in the central nervous system. Bioinformatics analysis predicts almost 100 ion channels, membrane transporters and receptors, including genes linked to primary fa …
MicroRNA-9 (miR-9) modulates gene expression and demonstrates high structural conservation and wide expression in the central nervous system …
Nutritional profile of newborns with microcephaly and factors associated with worse outcomes.
Dos Santos SFM, Soares FVM, de Abranches AD, da Costa ACC, Gomes-Júnior SCDS, Fonseca VM, Moreira MEL. Dos Santos SFM, et al. Clinics (Sao Paulo). 2019 Oct 21;74:e798. doi: 10.6061/clinics/2019/e798. eCollection 2019. Clinics (Sao Paulo). 2019. PMID: 31644665 Free PMC article.
Data analysis was performed using a generalized estimating equation model and Student's t-test to evaluate the association between worsening weight-for-age z-scores and independent clinical, sociodemographic and nutritional variables during hospitalization, with p<0.05 …
Data analysis was performed using a generalized estimating equation model and Student's t-test to evaluate the association between worsening …
Should adults be screened for celiac disease? What are the benefits and harms of screening?
Collin P. Collin P. Gastroenterology. 2005 Apr;128(4 Suppl 1):S104-8. doi: 10.1053/j.gastro.2005.02.021. Gastroenterology. 2005. PMID: 15825117 Review.
Infertility, neurologic symptoms such as polyneuropathy, ataxia, epilepsy with posterior cerebral calcification, and osteoporosis are conditions in which celiac disease should be kept in mind. ...Evidence today does not support mass screening of celiac disease. Inst …
Infertility, neurologic symptoms such as polyneuropathy, ataxia, epilepsy with posterior cerebral calcification, and osteoporo …
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, et al. Sly WS, et al. N Engl J Med. 1985 Jul 18;313(3):139-45. doi: 10.1056/NEJM198507183130302. N Engl J Med. 1985. PMID: 3925334
Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. ...Reduced levels of isozyme II were found in obligate heterozygotes. These observations demonstrate the generality of the finding …
Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 197 …
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.
Shaik NA, Bokhari HA, Masoodi TA, Shetty PJ, Ajabnoor GMA, Elango R, Banaganapalli B. Shaik NA, et al. J Biomol Struct Dyn. 2020 Sep;38(14):4067-4080. doi: 10.1080/07391102.2019.1671899. Epub 2019 Oct 8. J Biomol Struct Dyn. 2020. PMID: 31542996
Carbonic anhydrase 2 (CA2) enzyme deficiency caused by CA2 gene mutations is an inherited disorder characterized by symptoms like osteopetrosis, renal tubular acidosis, and cerebral calcification. This study has collected the CA2 deficiency causal missense mutations …
Carbonic anhydrase 2 (CA2) enzyme deficiency caused by CA2 gene mutations is an inherited disorder characterized by symptoms like osteopetro …
MRI findings in children with congenital cytomegalovirus infection retrospectively diagnosed with dried umbilical cord.
Kidokoro H, Shiraki A, Torii Y, Tanaka M, Yamamoto H, Kurahashi H, Maruyama K, Okumura A, Natsume J, Ito Y. Kidokoro H, et al. Neuroradiology. 2021 May;63(5):761-768. doi: 10.1007/s00234-020-02603-9. Epub 2020 Nov 17. Neuroradiology. 2021. PMID: 33205317
Upon diagnosis, MR and CT images were assessed using the van der Knaap scoring system integrated with additional variables. Two investigators independently assessed all images. ...Of the 31 children, 30 had a white matter (WM) abnormality predominant in the deep WM …
Upon diagnosis, MR and CT images were assessed using the van der Knaap scoring system integrated with additional variables. Tw …
Human Toxoplasma gondii infection in Nigeria: a systematic review and meta-analysis of data published between 1960 and 2019.
Karshima SN, Karshima MN. Karshima SN, et al. BMC Public Health. 2020 Jun 6;20(1):877. doi: 10.1186/s12889-020-09015-7. BMC Public Health. 2020. PMID: 32505179 Free PMC article.
BACKGROUND: Over 70% of the worlds' population is infected by Toxoplasma gondii; a pathogen capable of causing cerebral toxoplasmosis in HIV patients and neonatal complications like miscarriage, chorioretinitis, hydrocephalus, cerebral calcification and foetal death …
BACKGROUND: Over 70% of the worlds' population is infected by Toxoplasma gondii; a pathogen capable of causing cerebral toxoplasmosis in HIV …
19 results