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
1963 1
1964 1
1975 1
1979 1
1987 1
1993 3
1994 3
1995 2
1996 3
1997 2
1998 2
1999 2
2000 2
2001 7
2002 3
2003 3
2004 6
2005 11
2006 12
2007 10
2008 8
2009 13
2010 7
2011 10
2012 10
2013 8
2014 10
2015 5
2016 8
2017 12
2018 11
2019 4
2020 4
2021 12
2022 13
2023 12
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

204 results

Results by year

Filters applied: . Clear all
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.
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. Renal ciliopathies are characterized by the presence of kidney cysts that develo …
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet- …
Genetic Determinants of Childhood Obesity.
Littleton SH, Berkowitz RI, Grant SFA. Littleton SH, et al. Mol Diagn Ther. 2020 Dec;24(6):653-663. doi: 10.1007/s40291-020-00496-1. Epub 2020 Oct 1. Mol Diagn Ther. 2020. PMID: 33006084 Free PMC article. Review.
Childhood obesity cases can be categorized in one of two ways: syndromic or non-syndromic. Syndromic obesity includes disorders such as Prader-Willi syndrome, Bardet-Biedl syndrome, and Alstrom syndrome. Non-syndromic cases of obesity can be fur …
Childhood obesity cases can be categorized in one of two ways: syndromic or non-syndromic. Syndromic obesity includes disorders such as Prad …
Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet-Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies - …
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the …
Setmelanotide: First Approval.
Markham A. Markham A. Drugs. 2021 Feb;81(3):397-403. doi: 10.1007/s40265-021-01470-9. Drugs. 2021. PMID: 33638809 Review.
Setmelanotide is also being developed in other rare genetic disorders associated with obesity including Bardet-Biedl Syndrome, Alstrom Syndrome, POMC and other MC4R pathway heterozygous deficiency obesities, and POMC epigenetic disorders. ...
Setmelanotide is also being developed in other rare genetic disorders associated with obesity including Bardet-Biedl Syndro …
Genetics of Obesity in Humans: A Clinical Review.
Mahmoud R, Kimonis V, Butler MG. Mahmoud R, et al. Int J Mol Sci. 2022 Sep 20;23(19):11005. doi: 10.3390/ijms231911005. Int J Mol Sci. 2022. PMID: 36232301 Free PMC article. Review.
The genetics of obesity could be classified into syndromic and non-syndromic obesity. Prader-Willi, fragile X, Bardet-Biedl, Cohen, and Albright Hereditary Osteodystrophy (AHO) syndromes are examples of syndromic obesity, which are associated with developmental dela …
The genetics of obesity could be classified into syndromic and non-syndromic obesity. Prader-Willi, fragile X, Bardet-Biedl, C …
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." ...Such pleiotropic characteristics are typical of many disor …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).
Rodriguez MM. Rodriguez MM. Fetal Pediatr Pathol. 2014 Oct-Dec;33(5-6):293-320. doi: 10.3109/15513815.2014.959678. Epub 2014 Oct 14. Fetal Pediatr Pathol. 2014. PMID: 25313840 Free PMC article. Review.
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral …
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology descr …
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 …
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicysti …
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome …
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
Priya S, Nampoothiri S, Sen P, Sripriya S. Priya S, et al. Indian J Ophthalmol. 2016 Sep;64(9):620-627. doi: 10.4103/0301-4738.194328. Indian J Ophthalmol. 2016. PMID: 27853007 Free PMC article. Review.
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows …
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one …
204 results