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

Year Number of Results
1967 1
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1978 2
1980 4
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1982 2
1983 3
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1987 3
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1993 5
1994 5
1995 7
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1998 4
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2006 12
2007 16
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429 results

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Quoted phrase not found in phrase index: "Fanconi renotubular syndrome 2"
Page 1
Renal Tubular Acidosis.
Bagga A, Sinha A. Bagga A, et al. Indian J Pediatr. 2020 Sep;87(9):733-744. doi: 10.1007/s12098-020-03318-8. Epub 2020 Jun 26. Indian J Pediatr. 2020. PMID: 32591997 Review.
Renal tubular acidosis (RTA) comprises a group of disorders characterized by low capacity for net acid excretion and persistent hyperchloremic metabolic acidosis, despite preserved glomerular filtration rate. RTA are classified into chiefly three types (1, 2 and 4) based o …
Renal tubular acidosis (RTA) comprises a group of disorders characterized by low capacity for net acid excretion and persistent hyperchlorem …
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.
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo …
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome …
Renal involvement in primary Sjogren syndrome.
François H, Mariette X. François H, et al. Nat Rev Nephrol. 2016 Feb;12(2):82-93. doi: 10.1038/nrneph.2015.174. Epub 2015 Nov 16. Nat Rev Nephrol. 2016. PMID: 26568188 Review.
Primary Sjogren syndrome (pSS) is an autoimmune disorder characterized by lymphoplasmacytic infiltration of the exocrine (salivary and lachrymal) glands that results in sicca symptoms (dryness of the eyes and mouth). ...Electrolyte disturbances may occur in pSS, such as re …
Primary Sjogren syndrome (pSS) is an autoimmune disorder characterized by lymphoplasmacytic infiltration of the exocrine (salivary an …
GLUT2, glucose sensing and glucose homeostasis.
Thorens B. Thorens B. Diabetologia. 2015 Feb;58(2):221-32. doi: 10.1007/s00125-014-3451-1. Epub 2014 Nov 25. Diabetologia. 2015. PMID: 25421524 Review.
Electrophysiological and optogenetic techniques established that Glut2 (also known as Slc2a2)-expressing neurons of the nucleus tractus solitarius can be activated by hypoglycaemia to stimulate glucagon secretion. In humans, inactivating mutations in GLUT2 cause Fanconi-Bi …
Electrophysiological and optogenetic techniques established that Glut2 (also known as Slc2a2)-expressing neurons of the nucleus tractus soli …
Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease.
Nielsen R, Christensen EI, Birn H. Nielsen R, et al. Kidney Int. 2016 Jan;89(1):58-67. doi: 10.1016/j.kint.2015.11.007. Kidney Int. 2016. PMID: 26759048 Free article. Review.
Proximal tubule protein uptake is mediated by 2 receptors, megalin and cubilin. These receptors rescue a variety of filtered ligands, including biomarkers, essential vitamins, and hormones. ...
Proximal tubule protein uptake is mediated by 2 receptors, megalin and cubilin. These receptors rescue a variety of filtered ligands, …
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S. Yurgelun MB, et al. J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30. J Clin Oncol. 2017. PMID: 28135145 Free PMC article.
Each gene was categorized as high penetrance or moderate penetrance on the basis of published estimates of the lifetime cancer risks conferred by pathogenic germline mutations in that gene. Results One hundred five (9.9%; 95% CI, 8.2% to 11.9%) of 1,058 participants carrie …
Each gene was categorized as high penetrance or moderate penetrance on the basis of published estimates of the lifetime cancer risks conferr …
Hereditary myeloid malignancies.
Rafei H, DiNardo CD. Rafei H, et al. Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3. Best Pract Res Clin Haematol. 2019. PMID: 31203998 Free PMC article. Review.
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mis …
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased …
Fanconi-Bickel syndrome.
Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Mohandas Nair K, et al. Indian J Pediatr. 2012 Jan;79(1):112-4. doi: 10.1007/s12098-011-0373-5. Epub 2011 Feb 15. Indian J Pediatr. 2012. PMID: 21327337
We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. ...Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous delet …
We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. ... …
Fanconi anemia.
Soulier J. Soulier J. Hematology Am Soc Hematol Educ Program. 2011;2011:492-7. doi: 10.1182/asheducation-2011.1.492. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160080 Review.
Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF). ...The cellular mechanisms underlying (1) the hematopoietic defect which leads to progressive BMF and (2) somatic clonal evolutions in this background, are still largely elusive. ...
Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF). ...The cellular mechanisms underlying (1) the hematopoi …
Nephrocalcinosis.
Alon US. Alon US. Curr Opin Pediatr. 1997 Apr;9(2):160-5. Curr Opin Pediatr. 1997. PMID: 9204244 Review.
Among the entities recently reported to be associated with nephrocalcinosis are some that characteristically include Fanconi's syndrome. These findings dispute the previous teaching of lack of renal calcifications in this syndrome, which involves proximal ren …
Among the entities recently reported to be associated with nephrocalcinosis are some that characteristically include Fanconi's syn …
429 results