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

Year Number of Results
1964 1
1965 1
1967 2
1968 1
1971 1
1977 1
1983 1
1985 2
1988 5
1991 1
1992 4
1993 1
1994 1
1995 2
1997 1
1998 1
1999 2
2000 3
2001 3
2003 1
2004 2
2005 2
2007 2
2008 3
2009 3
2010 2
2011 1
2013 5
2015 1
2016 1
2017 2
2018 2
2019 1
2020 1
2024 0

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62 results

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Page 1
Ciliary Genes in Renal Cystic Diseases.
Adamiok-Ostrowska A, Piekiełko-Witkowska A. Adamiok-Ostrowska A, et al. Cells. 2020 Apr 8;9(4):907. doi: 10.3390/cells9040907. Cells. 2020. PMID: 32276433 Free PMC article. Review.
., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephronophthisis, as well as rare genetic disorders, including syndromes of Joubert, Meckel-Gruber, Bardet …
., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in pol …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as cil …
Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, …
Developmental disorders of the dentition: an update.
Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R. Klein OD, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4. Am J Med Genet C Semin Med Genet. 2013. PMID: 24124058 Free PMC article. Review.
Milia: a review and classification.
Berk DR, Bayliss SJ. Berk DR, et al. J Am Acad Dermatol. 2008 Dec;59(6):1050-63. doi: 10.1016/j.jaad.2008.07.034. Epub 2008 Sep 25. J Am Acad Dermatol. 2008. PMID: 18819726 Review.
Orofaciodigital syndrome type I in a patient with severe CNS defects.
Leão MJ, Ribeiro-Silva ML. Leão MJ, et al. Pediatr Neurol. 1995 Oct;13(3):247-51. doi: 10.1016/0887-8994(95)00153-7. Pediatr Neurol. 1995. PMID: 8554663 Review.
A female patient with orofaciodigital syndrome type I associated with pachygyria, heterotopic gray matter, interhemispheric cyst, agenesis of the corpus callosum, and a Dandy-Walker anomaly is reported. Because some of these defects have been described in patients with dif …
A female patient with orofaciodigital syndrome type I associated with pachygyria, heterotopic gray matter, interhemispheric cyst, age …
Glomerulocystic kidney disease--nosological considerations.
Bernstein J. Bernstein J. Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. Pediatr Nephrol. 1993. PMID: 8398663 Review.
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes. ...In all of these sy …
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofac …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognize …
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in whic …
Genodermatoses in women.
Mevorah B, Politi Y. Mevorah B, et al. Clin Dermatol. 1997 Jan-Feb;15(1):17-29. doi: 10.1016/s0738-081x(96)00106-x. Clin Dermatol. 1997. PMID: 9034652 Review. No abstract available.
New Insights into Cystic Kidney Diseases.
Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K. Mochizuki T, et al. Contrib Nephrol. 2018;195:31-41. doi: 10.1159/000486932. Epub 2018 May 7. Contrib Nephrol. 2018. PMID: 29734148 Review.
Oral-facial-skeletal syndromes.
Neri G, Gurrieri F, Genuardi M. Neri G, et al. Am J Med Genet. 1995 Nov 20;59(3):365-8. doi: 10.1002/ajmg.1320590317. Am J Med Genet. 1995. PMID: 8599363 Review. No abstract available.
62 results