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

Year Number of Results
1967 3
1968 2
1970 5
1971 9
1972 5
1973 6
1974 9
1975 5
1976 10
1977 8
1978 3
1979 7
1980 6
1981 14
1982 5
1983 14
1984 13
1985 25
1986 18
1987 28
1988 35
1989 58
1990 43
1991 61
1992 63
1993 62
1994 63
1995 89
1996 71
1997 106
1998 67
1999 81
2000 76
2001 85
2002 85
2003 102
2004 112
2005 92
2006 96
2007 105
2008 112
2009 96
2010 104
2011 125
2012 122
2013 125
2014 154
2015 121
2016 113
2017 124
2018 131
2019 98
2020 121
2021 91
2022 71
2023 66
2024 31

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3,268 results

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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.
During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these mutations manifest as renal …
During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in cil …
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M. Herlin MK, et al. Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. Orphanet J Rare Dis. 2020. PMID: 32819397 Free PMC article. Review.
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also referred to as Mullerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotyp …
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also referred to as Mullerian aplasia, is a congenital disorder character …
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.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. ...
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dys …
The genetics and pathogenesis of CAKUT.
Kolvenbach CM, Shril S, Hildebrandt F. Kolvenbach CM, et al. Nat Rev Nephrol. 2023 Nov;19(11):709-720. doi: 10.1038/s41581-023-00742-9. Epub 2023 Jul 31. Nat Rev Nephrol. 2023. PMID: 37524861 Review.
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from defective kidney or urinary tract development and frequently lead to kidney failure. The clinical spectrum ranges from severe malformations, such as re …
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from defective kidn …
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. ...The managemen …
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral …
Herlyn-Werner-Wunderlich syndromne: case review and report of the literature.
Gutiérrez-Montufar OO, Zambrano-Moncayo CP, Otálora-Gallego MC, Meneses-Parra AL, Díaz-Yamal I. Gutiérrez-Montufar OO, et al. Rev Colomb Obstet Ginecol. 2021 Dec 30;72(4):407-422. doi: 10.18597/rcog.3699. Rev Colomb Obstet Ginecol. 2021. PMID: 35134287 Free PMC article. Review. English, Spanish.
CONCLUSION: HWWS is an infrequent disease condition. It must be part of the work-up for renal agenesis in pediatric patients and of the differential diagnosis in primary dysmenorrhea in adolescence. ...CONCLUSION: HWWS is an infrequent disease condition. It must be part of …
CONCLUSION: HWWS is an infrequent disease condition. It must be part of the work-up for renal agenesis in pediatric patients and of t …
Autosomal dominant polycystic kidney disease.
Torres VE, Harris PC, Pirson Y. Torres VE, et al. Lancet. 2007 Apr 14;369(9569):1287-1301. doi: 10.1016/S0140-6736(07)60601-1. Lancet. 2007. PMID: 17434405 Review.
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
For instance, JS individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis, while pathogenic variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement, requiring a closer monitoring of liver …
For instance, JS individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis, while pathogenic va …
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 ur …
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Patholog …
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. Scheinfeld NS, et al. Pediatr Dermatol. 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. Pediatr Dermatol. 2004. PMID: 15165194 Review.
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. ...Preauricular sinus …
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjace …
3,268 results