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

Year Number of Results
1968 1
1977 1
1980 3
1982 1
1983 1
1984 1
1985 1
1986 1
1987 2
1988 1
1989 2
1990 1
1991 3
1992 1
1993 1
1994 1
1995 2
1996 2
1997 2
1998 4
1999 3
2000 3
2001 5
2002 3
2003 1
2004 2
2005 3
2006 4
2007 1
2008 4
2009 2
2010 4
2011 5
2012 6
2013 3
2014 2
2015 3
2016 2
2017 11
2018 8
2019 10
2020 5
2021 3
2023 1
2024 0

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116 results

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Page 1
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS. Morris CA, et al. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21. Pediatrics. 2020. PMID: 31964759 Review.
The recommendations in this report reflect review of the current literature, including previously peer-reviewed and published management suggestions for WS, as well as the consensus of physicians and psychologists with expertise in the care of individuals with WS. These ge …
The recommendations in this report reflect review of the current literature, including previously peer-reviewed and published management sug …
Application of nanotechnology in the diagnosis and treatment of bladder cancer.
Xu Y, Luo C, Wang J, Chen L, Chen J, Chen T, Zeng Q. Xu Y, et al. J Nanobiotechnology. 2021 Nov 27;19(1):393. doi: 10.1186/s12951-021-01104-y. J Nanobiotechnology. 2021. PMID: 34838048 Free PMC article. Review.
Bladder cancer (BC) is a common malignancy in the genitourinary system and the current theranostic approaches are unsatisfactory. ...For example, gold nanoparticles (AuNPs) have been developed for simple, fast and sensitive urinary sample test for bladder cancer dia …
Bladder cancer (BC) is a common malignancy in the genitourinary system and the current theranostic approaches are unsatisfactory. ... …
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y(+)L amino acid transporter-1 (y(+) LAT-1). LPI is associated with autosomal recessive inheritance and pathological variants in …
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnorma …
Intraflagellar transport 20: New target for the treatment of ciliopathies.
Zhou MH, Lin Y, Zhang ZG. Zhou MH, et al. Biochim Biophys Acta Mol Cell Res. 2020 Jul;1867(7):118641. doi: 10.1016/j.bbamcr.2019.118641. Epub 2019 Dec 30. Biochim Biophys Acta Mol Cell Res. 2020. PMID: 31893523 Free article. Review.
The formation and assembly of cilia depend on the normal functioning of the ciliary transport system. In recent years, various proteins involved in the intracellular transport of the cilium have attracted attention, as many diseases are caused by disorders in cilia formati …
The formation and assembly of cilia depend on the normal functioning of the ciliary transport system. In recent years, various protei …
Evolving treatment strategies for the management of type 2 diabetes.
Cefalu WT. Cefalu WT. Am J Med Sci. 2012 Jan;343(1):21-6. doi: 10.1097/MAJ.0b013e31823ea4af. Am J Med Sci. 2012. PMID: 22205062 Review.
These therapies include 2 classes of incretin-directed therapy, the dipeptidyl peptidase-4 inhibitors and the glucagon-like peptide-1 agonists, which help restore physiologic levels and activity of the incretin glucagon-like peptide-1. ...These therapies are …
These therapies include 2 classes of incretin-directed therapy, the dipeptidyl peptidase-4 inhibitors and the glucagon-like pe …
Recent progress in the pathophysiology and treatment of FSGS recurrence.
Cravedi P, Kopp JB, Remuzzi G. Cravedi P, et al. Am J Transplant. 2013 Feb;13(2):266-74. doi: 10.1111/ajt.12045. Epub 2013 Jan 11. Am J Transplant. 2013. PMID: 23312002 Free PMC article. Review.
Focal segmental glomerulosclerosis (FSGS) is a glomerular disease characterized by proteinuria, frequent progression to end-stage renal disease, and recurrence after kidney transplantation in 25% of patients, which negatively impacts long-term allograft survival. Experimental stu …
Focal segmental glomerulosclerosis (FSGS) is a glomerular disease characterized by proteinuria, frequent progression to end-stage renal dise …
Pathophysiology and treatment of cystinuria.
Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M. Chillarón J, et al. Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1. Nat Rev Nephrol. 2010. PMID: 20517292 Review.
A thorough understanding of cystine transport processes over the past 15 years and the genetic abnormalities responsible for the disease has led to a new classification of cystinuria and recognition that some cases result from an autosomal dominant etiology with incomplete …
A thorough understanding of cystine transport processes over the past 15 years and the genetic abnormalities responsible for the dise …
Lynch Syndrome: Current management In 2019.
Menahem B, Alves A, Regimbeau JM, Sabbagh C. Menahem B, et al. J Visc Surg. 2019 Dec;156(6):507-514. doi: 10.1016/j.jviscsurg.2019.07.009. Epub 2019 Aug 21. J Visc Surg. 2019. PMID: 31445799 Free article. Review.
Nearly 5% of colorectal cancers are related to constitutional genetic abnormalities. In Lynch Syndrome (LS), the abnormality is a mutation of the deoxyribonucleic acid (DNA) repair system. ...The narrow spectrum includes cancers with a high relative risk: col …
Nearly 5% of colorectal cancers are related to constitutional genetic abnormalities. In Lynch Syndrome (LS), the abnormality i …
Potassium-lowering agents for the treatment of nonemergent hyperkalemia: pharmacology, dosing and comparative efficacy.
Bridgeman MB, Shah M, Foote E. Bridgeman MB, et al. Nephrol Dial Transplant. 2019 Dec 1;34(Suppl 3):iii45-iii50. doi: 10.1093/ndt/gfz223. Nephrol Dial Transplant. 2019. PMID: 31800078 Review.
Hyperkalemia represents a common and potentially life-threating electrolyte abnormality, a complication frequently observed in patients with heart failure, kidney disease, diabetes or in those receiving drug therapies influencing the renin-angiotensin-aldosterone …
Hyperkalemia represents a common and potentially life-threating electrolyte abnormality, a complication frequently observed in patien …
116 results