Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2014 1
2017 1
2020 2
2021 1
2022 2
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Successful treatment of JAK1-associated inflammatory disease.
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S. Fayand A, et al. J Allergy Clin Immunol. 2023 Oct;152(4):972-983. doi: 10.1016/j.jaci.2023.06.004. Epub 2023 Jun 19. J Allergy Clin Immunol. 2023. PMID: 37343845 Free article.
OBJECTIVES: This study sought to describe the clinical and immunological characteristics associated with a new gain-of-function variant of JAK1 and report the therapeutic efficacy of Janus kinase (JAK) inhibition. METHODS: The investigators identified a family affected by …
OBJECTIVES: This study sought to describe the clinical and immunological characteristics associated with a new gain-of-function variant of J …
Drug management of neutrophilic dermatoses.
Garcovich S, De Simone C, Berti E, Marzano AV. Garcovich S, et al. Expert Rev Clin Pharmacol. 2017 Oct;10(10):1119-1128. doi: 10.1080/17512433.2017.1356719. Epub 2017 Jul 27. Expert Rev Clin Pharmacol. 2017. PMID: 28715916 Review.
The increasing role of the IL-1 cytokine family in initiating neutrophilic inflammation in both idiopathic and syndromic disease opened the way for the use of targeted biological treatment. Another promising treatment strategy is aimed at blocking downstream effecto …
The increasing role of the IL-1 cytokine family in initiating neutrophilic inflammation in both idiopathic and syndromic disease …
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.
Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D, Glynn N, Higham CE, Jacques TS, Sinha S, Simmons I, Thorp N, Swords FM, Storr HL, Spoudeas HA. Korbonits M, et al. Nat Rev Endocrinol. 2024 May;20(5):278-289. doi: 10.1038/s41574-023-00948-8. Epub 2024 Feb 9. Nat Rev Endocrinol. 2024. PMID: 38336897 Review.
While in many aspects the care for CYP is similar to that of adults, key differences exist, particularly in aetiology and presentation. CYP with suspected pituitary adenomas require careful clinical examination, appropriate hormonal work-up, dedicated pituitary imaging and …
While in many aspects the care for CYP is similar to that of adults, key differences exist, particularly in aetiology and presentatio …
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO. Khan AO. Retina. 2020 Sep;40(9):1829-1837. doi: 10.1097/IAE.0000000000002675. Retina. 2020. PMID: 31725702
PURPOSE: Inherited retinal disease is relatively common in the Arabian Gulf, but details regarding pediatric inherited retinal disease in the region are lacking. ...Molecular diagnosis is particularly important in affected children when inherited retinal dystrophy c …
PURPOSE: Inherited retinal disease is relatively common in the Arabian Gulf, but details regarding pediatric inherited retinal dis …
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM. Shah M, et al. Ophthalmic Genet. 2020 Aug;41(4):331-337. doi: 10.1080/13816810.2020.1778736. Epub 2020 Jun 16. Ophthalmic Genet. 2020. PMID: 32543920
Retinitis pigmentosa/rod-cone dystrophy was the commonest presenting phenotype (n = 243) and Usher syndrome was the commonest presenting syndromic disease (n = 39). Patients presenting with late-onset (50 years) macular disease had a lower diagnostic yield (1 …
Retinitis pigmentosa/rod-cone dystrophy was the commonest presenting phenotype (n = 243) and Usher syndrome was the commonest presenting …
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A, Sczakiel HL, Danyel M, Kohlmaier B, Mache CJ, Stalke A, Pfister ED, Thumfart J, Henning S, Knisely AS, Bufler P. Azabdaftari A, et al. Liver Int. 2023 May;43(5):1089-1095. doi: 10.1111/liv.15563. Epub 2023 Mar 27. Liver Int. 2023. PMID: 36938759
Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two n …
Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary ci …
The COVID-19 Pandemic in a Hispanic Population: A Primary Care Perspective.
Owens CD, Pertuz GM, Sanchez JC, Ayala J, Pimentel LH, Lamb C, Lopez Mayo YE, Yunez AL. Owens CD, et al. J Am Board Fam Med. 2022 Jul-Aug;35(4):686-694. doi: 10.3122/jabfm.2022.04.210163. J Am Board Fam Med. 2022. PMID: 35896459 Free article.
CONCLUSIONS: Hispanic patients have diverse reasons for seeking health care and for testing in a pandemic. COVID-19 is a syndromic disease as evidenced from the clustering of symptoms. Essential workers and uninsured health status may lead to more prolonged …
CONCLUSIONS: Hispanic patients have diverse reasons for seeking health care and for testing in a pandemic. COVID-19 is a syndromic …
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.
The 50-case pilot showed that although demographics and assertion of a clinical diagnosis of HCM had 86% to 98% completion, specific phenotypic features, such as degree of left ventricular hypertrophy, ejection fraction, and suspected syndromic disease, were complet …
The 50-case pilot showed that although demographics and assertion of a clinical diagnosis of HCM had 86% to 98% completion, specific phenoty …
HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors.
Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L. Liverani C, et al. Front Endocrinol (Lausanne). 2023 Jan 20;13:1045038. doi: 10.3389/fendo.2022.1045038. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36743926 Free PMC article.
Both are often diagnosed after the metastatic spread and require appropriate medical treatment. A high priority need in the management of this disease is the identification of effective therapeutic strategies for advanced and metastatic patients. ...None of the othe …
Both are often diagnosed after the metastatic spread and require appropriate medical treatment. A high priority need in the management of th …
Sexually transmitted disease syndromic case management through public sector facilities: development and assessment study in Punjab Pakistan.
Khan MA, Javed W, Ahmed M, Walley J, Munir MA. Khan MA, et al. Ann Glob Health. 2014 Nov-Dec;80(6):486-92. doi: 10.1016/j.aogh.2015.02.002. Ann Glob Health. 2014. PMID: 25960098 Free article.
METHODS: A prospective study lasting 18 months (January 2008 to June 2009), which reviewed early implementation experiences of updated case management guidelines for delivery of syndrome-based STI/reproductive tract infection care, through public-sector health care …
METHODS: A prospective study lasting 18 months (January 2008 to June 2009), which reviewed early implementation experiences of updated case …
11 results