Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1992
2025

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

Year Number of Results
1992 1
1998 1
2011 1
2016 1
2017 2
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U. Kagan KO, et al. Curr Opin Obstet Gynecol. 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. Curr Opin Obstet Gynecol. 2017. PMID: 28151755 Review.
Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively. ...
Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Jouber
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. ...
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnos …
[Report of a case with Joubert syndrome and literature review].
Yi YH, Li G, Lu ZL, Zhou JS, Yao ZW, Wang PF, Yao JX. Yi YH, et al. Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):939-42. Zhonghua Er Ke Za Zhi. 2011. PMID: 22336363 Review. Chinese.
OBJECTIVE: To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). METHOD: The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. ...The typical ima …
OBJECTIVE: To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). METHOD: The clinical …
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. Bader I, et al. Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Eur J Med Genet. 2016. PMID: 27377014 Review.
Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. ...To our knowledge, this is the first patient with Joubert synd
Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea,
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
Van Balkom ID, Quartel S, Hennekam RC. Van Balkom ID, et al. Am J Med Genet. 1998 Jan 23;75(3):273-6. doi: 10.1002/(sici)1096-8628(19980123)75:3<273::aid-ajmg9>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9475596 Review.
The symptoms in this patient are different from those in the Joubert syndrome, Rett syndrome, Rett-like variants, and of a case reported by Leifer et al. [1991: Dysmorph Clin Genet 5:42-47]. The manifestations in our patient and in the case described by Singh [1993: …
The symptoms in this patient are different from those in the Joubert syndrome, Rett syndrome, Rett-like variants, and of a cas …