Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2007 1
2010 1
2012 3
2013 1
2014 1
2020 1
2021 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. Taiwan J Obstet Gynecol. 2007. PMID: 17389183 Free article. Review.
Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. ...Differential diag …
Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13 …
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP; Genomics England Research Consortium; Gast C, Gilbert RD, Ennis S. Leggatt G, et al. Sci Rep. 2023 Jun 9;13(1):9369. doi: 10.1038/s41598-023-32169-4. Sci Rep. 2023. PMID: 37296294 Free PMC article.
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and neurological (Joubert syndrome) diseases. Nephronophthisis is a common cause of end-stage kidney disease (ESKD) in children and up to …
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and neurolog …
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.21.4 years, p<0.001), especially for patients carrying NPHP3 mutations (3.11.2 years), showing a heterogeneous phenotype characterised by Bardet-Biedl syndrome (12.5%, n=5), Joubert …
The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.21.4 years, p<0.001), especially for patients …
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M. Takagi Y, et al. Sci Rep. 2021 Jan 11;11(1):462. doi: 10.1038/s41598-020-80712-4. Sci Rep. 2021. PMID: 33432080 Free PMC article.
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the "molar tooth sign" on axial brain images, hypotonia, and developmental delay. ...However, there are few reports on the outcom …
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which i …
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus.
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK. Yamasaki M, et al. Semin Fetal Neonatal Med. 2012 Dec;17(6):330-5. doi: 10.1016/j.siny.2012.07.004. Epub 2012 Oct 23. Semin Fetal Neonatal Med. 2012. PMID: 23089488
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalo …
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, s …
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. J Med Genet. 2012. PMID: 22241855
BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. ...JS is also genetically heterogeneous, resulting from mutation …
BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), …
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Juric-Sekhar G, et al. Acta Neuropathol. 2012 May;123(5):695-709. doi: 10.1007/s00401-012-0951-2. Epub 2012 Feb 14. Acta Neuropathol. 2012. PMID: 22331178
Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability. ...Neuropathological studies, though few, suggest that several other brain and spinal cord structures, such as the dor …
Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, abnormal eye movements, and int …
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.
Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M. Itoh M, et al. Brain Dev. 2014 May;36(5):388-93. doi: 10.1016/j.braindev.2013.06.005. Epub 2013 Jul 8. Brain Dev. 2014. PMID: 23845172
After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. CONCLUSION: …
After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Pr …
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. Hum Mutat. 2010. PMID: 20683928 Free PMC article.
In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included. ...
In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert …