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

Year Number of Results
1971 1
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1999 1
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2006 1
2007 2
2008 1
2009 1
2010 1
2011 3
2012 1
2013 2
2015 1
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2017 3
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2019 4
2020 6
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2023 1
2024 1

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37 results

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Page 1
Current and future role of genetic screening in gynecologic malignancies.
Ring KL, Garcia C, Thomas MH, Modesitt SC. Ring KL, et al. Am J Obstet Gynecol. 2017 Nov;217(5):512-521. doi: 10.1016/j.ajog.2017.04.011. Epub 2017 Apr 12. Am J Obstet Gynecol. 2017. PMID: 28411145 Review.
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unea …
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrom …
Cystinosis: practical tools for diagnosis and treatment.
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Wilmer MJ, et al. Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Pediatr Nephrol. 2011. PMID: 20734088 Free PMC article. Review.
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrom …
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive …
Primary Sjgren's syndrome with renal Fanconi syndrome: Good responses to treatment with glucocorticoids.
Shi X, Chen Z, Wang J, Wen Y, Zou L, Fei Y, Ye W, Qin Y, Li H, Li M, Li X, Zhang F, Li X, Chen L. Shi X, et al. Semin Arthritis Rheum. 2020 Dec;50(6):1326-1332. doi: 10.1016/j.semarthrit.2020.03.017. Epub 2020 May 15. Semin Arthritis Rheum. 2020. PMID: 32418614
BACKGROUND: Renal Fanconi syndrome (FS) is rare in primary Sjgren's syndrome (pSS). ...After glucocorticoid treatment, the eGFR levels were significantly improved from 48.320.6 ml/min/1.73m(2) to 55.019.9 ml/min/1.73m(2) (P = 0.012) at the third …
BACKGROUND: Renal Fanconi syndrome (FS) is rare in primary Sjgren's syndrome (pSS). ...After glucocorticoid treatment, …
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O, Goldberg TA, Yacobovich J, Levin C, Koren A, Revel-Vilk S, Ben-Ami T, Kuperman AA, Zemer VS, Toren A, Kapelushnik J, Ben-Barak A, Miskin H, Krasnov T, Noy-Lotan S, Dgany O, Tamary H. Steinberg-Shemer O, et al. Haematologica. 2020 Jul;105(7):1825-1834. doi: 10.3324/haematol.2019.222877. Epub 2019 Sep 26. Haematologica. 2020. PMID: 31558676 Free PMC article.
Fanconi anemia (FA), an inherited bone marrow failure (BMF) syndrome, caused by mutations in DNA repair genes, is characterized by congenital anomalies, aplastic anemia, high risk of malignancies and extreme sensitivity to alkylating agents. ...Nearly 95% of the pat …
Fanconi anemia (FA), an inherited bone marrow failure (BMF) syndrome, caused by mutations in DNA repair genes, is characterize …
Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.
Scott RH, Walker L, Olsen ØE, Levitt G, Kenney I, Maher E, Owens CM, Pritchard-Jones K, Craft A, Rahman N. Scott RH, et al. Arch Dis Child. 2006 Dec;91(12):995-9. doi: 10.1136/adc.2006.101295. Epub 2006 Jul 20. Arch Dis Child. 2006. PMID: 16857697 Free PMC article. Review.
CONCLUSIONS: The following pragmatic recommendations have been formulated for Wilms tumour surveillance in children at risk, based on our review: (1) Surveillance should be offered to children at >5% risk of Wilms tumour. (2) Surveillance should only be offered after re …
CONCLUSIONS: The following pragmatic recommendations have been formulated for Wilms tumour surveillance in children at risk, based on our re …
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.
Medic G, van der Weijden M, Karabis A, Hemels M. Medic G, et al. Curr Med Res Opin. 2017 Nov;33(11):2065-2076. doi: 10.1080/03007995.2017.1354288. Epub 2017 Aug 3. Curr Med Res Opin. 2017. PMID: 28692321 Review.
All publicly available clinical reports on the use of delayed-release (DR) cysteamine bitartrate (Procysbi (1) ) or immediate-release (IR) cysteamine bitartrate (Cystagon (2) ) in patients with cystinosis were included. RESULTS: We identified a total of 103 publications an …
All publicly available clinical reports on the use of delayed-release (DR) cysteamine bitartrate (Procysbi (1) ) or immediate-release (IR) c …
Radiotherapy in the treatment of hereditary breast cancer.
Pierce LJ, Haffty BG. Pierce LJ, et al. Semin Radiat Oncol. 2011 Jan;21(1):43-50. doi: 10.1016/j.semradonc.2010.08.008. Semin Radiat Oncol. 2011. PMID: 21134653 Review.
Given the relatively recent identification of the BRCA1 and BRCA2 genes, the available literature with respect to outcomes related to radiation therapy has inherent limitations with relatively small patient numbers and a lack of prospective randomized trials. There is, how …
Given the relatively recent identification of the BRCA1 and BRCA2 genes, the available literature with respect to outcomes related to radiat …
Monitoring and treatment of MDS in genetically susceptible persons.
Davies SM. Davies SM. Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):105-109. doi: 10.1182/hematology.2019000020. Hematology Am Soc Hematol Educ Program. 2019. PMID: 31808891 Free PMC article.
Genetic susceptibility to myelodysplastic syndrome (MDS) occurs in children with inherited bone marrow failure syndromes, including Fanconi anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. ...
Genetic susceptibility to myelodysplastic syndrome (MDS) occurs in children with inherited bone marrow failure syndromes, including …
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
Benusiglio PR, Korenbaum C, Vibert R, Ezenfis J, Geoffron S, Paul C, Richard S, Byrde V, Lejeune M, Guillerm E, Basset N, Lotz JP, Chabbert-Buffet N, Gligorov J, Coulet F. Benusiglio PR, et al. Eur J Med Genet. 2020 Dec;63(12):104098. doi: 10.1016/j.ejmg.2020.104098. Epub 2020 Nov 10. Eur J Med Genet. 2020. PMID: 33186762 Free PMC article.
The clinical impact was immediate for the two BRCA1 BC cases undergoing neo-adjuvant chemotherapy, since double mastectomy and salpingo-oophorectomy will now be performed using two-step strategies. CONCLUSIONS: MGT guaranteed care continuity in BC/OC patients during the cr …
The clinical impact was immediate for the two BRCA1 BC cases undergoing neo-adjuvant chemotherapy, since double mastectomy and salpingo-ooph …
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W. Du T, et al. Orphanet J Rare Dis. 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. Orphanet J Rare Dis. 2024. PMID: 38365697 Free PMC article.
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. ...Two infant patients were misdiagnosed with transient neonatal diabetes mell …
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galacto …
37 results