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

Year Number of Results
1996 1
1998 1
2001 1
2004 1
2005 2
2006 2
2009 2
2014 1
2015 1
2016 1
2017 3
2019 2
2020 7
2021 2
2022 3
2023 1
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28 results

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Page 1
Genetics of vascular anomalies.
Nguyen HL, Boon LM, Vikkula M. Nguyen HL, et al. Semin Pediatr Surg. 2020 Oct;29(5):150967. doi: 10.1016/j.sempedsurg.2020.150967. Epub 2020 Sep 16. Semin Pediatr Surg. 2020. PMID: 33069286 Review.
The discovery of such genes aided in unraveling a holistic overview of the pathogenic mechanisms, by which in vitro and in vivo models could be generated, and opening the doors to development of more effective treatments that do not address just symptoms. ...
The discovery of such genes aided in unraveling a holistic overview of the pathogenic mechanisms, by which in vitro and in vivo models could …
Unresolved questions regarding human hereditary deafness.
Rehman AU, Friedman TB, Griffith AJ. Rehman AU, et al. Oral Dis. 2017 Jul;23(5):551-558. doi: 10.1111/odi.12516. Epub 2016 Jul 11. Oral Dis. 2017. PMID: 27259978 Free PMC article. Review.
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive cli …
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) …
Drug-induced autoimmunity.
Dedeoglu F. Dedeoglu F. Curr Opin Rheumatol. 2009 Sep;21(5):547-51. doi: 10.1097/BOR.0b013e32832f13db. Curr Opin Rheumatol. 2009. PMID: 19593142 Review.
PURPOSE OF REVIEW: This review aims to draw attention to the increased spectrum of the features of drug-induced autoimmunity (DIA), including both clinical and autoantibody profiles in addition to the potential chronicity of the syndrome. RECENT FINDINGS: In recent years, …
PURPOSE OF REVIEW: This review aims to draw attention to the increased spectrum of the features of drug-induced autoimmunity (DIA), includin …
Dendrimers, Carotenoids, and Monoclonal Antibodies.
Bashmakov YK, Petyaev IM. Bashmakov YK, et al. Monoclon Antib Immunodiagn Immunother. 2017 Oct;36(5):208-213. doi: 10.1089/mab.2017.0032. Epub 2017 Oct 10. Monoclon Antib Immunodiagn Immunother. 2017. PMID: 28994638 Review.
The use of carotenoid dendrimers, in particular lycosome particles loaded with various xenobiotics (resveratrol, cocoa flavanols, and HMG-CoA reductase inhibitors), reportedly has a beneficial effect in diabetic foot syndrome, prehypertension, and cardiovascular disease. N …
The use of carotenoid dendrimers, in particular lycosome particles loaded with various xenobiotics (resveratrol, cocoa flavanols, and HMG-Co …
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X, Dai P, Yuan YY. Gao X, et al. Hum Genet. 2022 Apr;141(3-4):821-838. doi: 10.1007/s00439-021-02310-2. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232384 Review.
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystrophy), DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizur …
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.
Danarti R, Rahmayani S, Wirohadidjojo YW, Chen W. Danarti R, et al. Eur J Dermatol. 2020 Aug 1;30(4):404-407. doi: 10.1684/ejd.2020.3850. Eur J Dermatol. 2020. PMID: 32969800 Review.
BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and fee …
BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare …
Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes - Advances in treatment.
McCullough KB, Patnaik MM. McCullough KB, et al. Best Pract Res Clin Haematol. 2020 Jun;33(2):101130. doi: 10.1016/j.beha.2019.101130. Epub 2019 Dec 3. Best Pract Res Clin Haematol. 2020. PMID: 32460984 Review.
Optimal treatment for myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes remain to be defined and are currently extrapolated from MDS and MPN. ...The advent of next generation sequencing has better defined the genomic landscape and open …
Optimal treatment for myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes remain to be defined an …
Molecular tools for diagnosing diseases of the adrenal cortex.
Faucz FR, Maria AG, Stratakis CA. Faucz FR, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Jun 1;30(3):154-160. doi: 10.1097/MED.0000000000000809. Epub 2023 Apr 17. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 37067987 Review.
Thus, in this review, we focus on the molecular tools available for diagnosing adrenocortical diseases, such as adrenal insufficiency, Cushing and Conn syndromes, and their potential for advancing medical care and clinical outcome. RECENT FINDINGS: The advent of next gener …
Thus, in this review, we focus on the molecular tools available for diagnosing adrenocortical diseases, such as adrenal insufficiency, Cushi …
Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.
Merckx NLL, Van Esch H. Merckx NLL, et al. Int J Mol Sci. 2022 Jun 9;23(12):6476. doi: 10.3390/ijms23126476. Int J Mol Sci. 2022. PMID: 35742919 Free PMC article. Review.
In practice this has contributed significantly to the understanding of ID and opened doors to identify novel therapeutic targets. Despite these advances, a number of areas of improvement remain for which novel technologies might entail a solution in the near future. ...
In practice this has contributed significantly to the understanding of ID and opened doors to identify novel therapeutic targets. Des …
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T, Miyake N, Carey JC. Kosho T, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169878 Review.
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is …
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations …
28 results