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2005 4
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48 results

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Page 1
WT1-related disorders: more than Denys-Drash syndrome.
Lopez-Gonzalez M, Ariceta G. Lopez-Gonzalez M, et al. Pediatr Nephrol. 2024 Sep;39(9):2601-2609. doi: 10.1007/s00467-024-06302-y. Epub 2024 Feb 7. Pediatr Nephrol. 2024. PMID: 38326647 Review.
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically d …
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Den …
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 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 acute and chronic myeloid leukemia, myelodysplastic syndrome and also in some other blood neoplasm …
The molecular basis of diseases such as Wilms tumor, WAGR, Denys-Drash or Frasier syndromes are congenital WT1 mutations, while somat …
Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.
Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P. Neophytou P, et al. Acta Neurol Belg. 2023 Oct;123(5):1693-1701. doi: 10.1007/s13760-023-02336-5. Epub 2023 Jul 19. Acta Neurol Belg. 2023. PMID: 37468803 Free PMC article.
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respiratory Syndrome CoronaVirus-2). The virus mainly causes respiratory symptoms, but neurological symptoms have also been reported to be part …
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respirator …
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 …
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. ...High-risk patients with unfavorable histology or the WAGR
Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental retardation, the WAGR syndrome, have a 50% …
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.
Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in pa …
Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) enc …
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
The Directions Are on the Box.
Karthikeyan AS, Lai YH, Khetan V. Karthikeyan AS, et al. J Pediatr Ophthalmol Strabismus. 2017 Mar 1;54(2):75-76. doi: 10.3928/01913913-20170210-01. J Pediatr Ophthalmol Strabismus. 2017. PMID: 28338996 Review. No abstract available.
48 results