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2025

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1986 1
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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Raina R, et al. Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6. Am J Kidney Dis. 2021. PMID: 33418012 Review.
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-beta (HNF1-beta) nephropathy, Bardet-Biedl syndrome, …
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicysti …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Hum Mutat. 2010. PMID: 20690115 Review.
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD] …
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenoty …
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
Turkyilmaz A, Geckinli BB, Alavanda C, Arslan Ates E, Buyukbayrak EE, Eren SF, Arman A. Turkyilmaz A, et al. Genet Test Mol Biomarkers. 2021 Jun;25(6):445-451. doi: 10.1089/gtmb.2020.0311. Epub 2021 Jun 4. Genet Test Mol Biomarkers. 2021. PMID: 34096792 Review.
Background: Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. ...
Background: Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital …
Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM. Junior JHMF, et al. Childs Nerv Syst. 2024 Jul;40(7):2161-2168. doi: 10.1007/s00381-024-06346-3. Epub 2024 Mar 9. Childs Nerv Syst. 2024. PMID: 38459147 Review.
INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. ...The search strategy aimed to encompass studies documenting cases …
INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipit …
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.
Alexiev BA, Lin X, Sun CC, Brenner DS. Alexiev BA, et al. Arch Pathol Lab Med. 2006 Aug;130(8):1236-8. doi: 10.5858/2006-130-1236-MS. Arch Pathol Lab Med. 2006. PMID: 16879033 Free article. Review.
This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. ...In these cases, a meticulous autopsy is necessary to esta …
This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge a …
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
Barker AR, Thomas R, Dawe HR. Barker AR, et al. Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9. Organogenesis. 2014. PMID: 24322779 Free PMC article. Review.
Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems....
Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, a …
42 results