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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.
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
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 …
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.
Lin AE, Doshi N, Flom L, Tenenholz B, Filkins KL. Lin AE, et al. Am J Med Genet. 1991 Jun 1;39(3):247-51. doi: 10.1002/ajmg.1320390303. Am J Med Genet. 1991. PMID: 1867273 Review.
Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders....
Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortnes …
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.
62 results