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1988 1
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46 results

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Page 1
NGF and BDNF in pediatrics syndromes.
Ferraguti G, Terracina S, Micangeli G, Lucarelli M, Tarani L, Ceccanti M, Spaziani M, D'Orazi V, Petrella C, Fiore M. Ferraguti G, et al. Neurosci Biobehav Rev. 2023 Feb;145:105015. doi: 10.1016/j.neubiorev.2022.105015. Epub 2022 Dec 21. Neurosci Biobehav Rev. 2023. PMID: 36563920 Review.
A variety of diseases has been analyzed and many have been linked to NTs neurobiological effects, including chronic granulomatous disease, hereditary sensory and autonomic neuropathy, Duchenne muscular dystrophy, Bardet-Biedl syndrome, Angelman syndrome, fragile X …
A variety of diseases has been analyzed and many have been linked to NTs neurobiological effects, including chronic granulomatous disease, h …
Heterogeneity of human WT1 gene.
Bielińska E, Matiakowska K, Haus O. Bielińska E, et al. Postepy Hig Med Dosw (Online). 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. Postepy Hig Med Dosw (Online). 2017. PMID: 28791954 Review.
The WT1 gene may undergo many different mutations, as well as may be overexpressed without a mutation. The molecular basis of diseases such as Wilms tumor, WAGR, Denys-Drash or Frasier syndromes are congenital WT1 mutations, while somatic mutations of this gene occur in ac …
The WT1 gene may undergo many different mutations, as well as may be overexpressed without a mutation. The molecular basis of diseases such …
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). ...In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified …
The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability-is phenotypically and genotypically distinct from classical aniridia. ... …
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia …
[Congenital aniridia in children].
Bremond-Gignac D. Bremond-Gignac D. Rev Prat. 2019 Jan;69(1):67-70. Rev Prat. 2019. PMID: 30983291 Review. French.
Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus. ...These different syndromes are t …
Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by parti
Management of bilateral Wilms tumours.
Millar AJ, Cox S, Davidson A. Millar AJ, et al. Pediatr Surg Int. 2017 Apr;33(4):461-469. doi: 10.1007/s00383-016-4047-2. Epub 2017 Jan 4. Pediatr Surg Int. 2017. PMID: 28054101 Review.
At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash Syndrome, hemihypertrophy, or one of the other overgrowth syndromes. ...
At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WA
Management of bilateral Wilms tumours.
Millar AJW, Cox S, Davidson A. Millar AJW, et al. Pediatr Surg Int. 2017 Jul;33(7):737-745. doi: 10.1007/s00383-017-4091-6. Epub 2017 May 17. Pediatr Surg Int. 2017. PMID: 28516188 Review.
At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash syndrome, hemihypertrophy, or one of the other overgrowth syndromes. ...
At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WA
Wilms' tumor management.
Wu HY, Snyder HM 3rd, D'Angio GJ. Wu HY, et al. Curr Opin Urol. 2005 Jul;15(4):273-6. doi: 10.1097/01.mou.0000172403.69890.eb. Curr Opin Urol. 2005. PMID: 15928519 Review.
Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental retardation, the WAGR syndrome, have a 50% chance of unexplained end-stage renal disease 20 years after treatment. SUMMARY: Less aggressive means of diagnosis and treatment for Wilms …
Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental retardation, the WAGR syndrome, have a 50% …
Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity.
Han JC. Han JC. Prog Mol Biol Transl Sci. 2016;140:75-95. doi: 10.1016/bs.pmbts.2015.12.002. Epub 2016 Feb 3. Prog Mol Biol Transl Sci. 2016. PMID: 27288826 Review.
Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. ...
Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversio …
Wilms tumor: an update.
Al-Hussain T, Ali A, Akhtar M. Al-Hussain T, et al. Adv Anat Pathol. 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. Adv Anat Pathol. 2014. PMID: 24713986 Review.
Germline mutation in WT1 may be associated with syndromic conditions such as WAGR and Denys-Drash syndromes. Perilobar rests and their corresponding tumors usually have loss of imprinting/loss of heterozygosity involving WT2, which contains several parentally imprinted gen …
Germline mutation in WT1 may be associated with syndromic conditions such as WAGR and Denys-Drash syndromes. Perilobar rests and thei …
46 results