Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

909 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
A PCR-Based Method to Genotype Mice Knocked Out for All Four CD3 Subunits, the Standard Recipient Strain for Retrogenic TCR/CD3 Bone Marrow Reconstitution Technology.
Ferrer A, Schrum AG, Gil D. Ferrer A, et al. Biores Open Access. 2013 Jun;2(3):222-6. doi: 10.1089/biores.2013.0002. Biores Open Access. 2013. PMID: 23741635 Free PMC article.
The novel T-cell receptor (TCR)/CD3-retrogenic-reconstitution system represents a very useful strategy for studying TCR/CD3 signaling. ...These mice are generated by crossing the strains CD3zeta(-/-) and CD3gammadeltae(-/-), the latter resulting from a knockout cons …
The novel T-cell receptor (TCR)/CD3-retrogenic-reconstitution system represents a very useful strategy for studying TCR/CD3 signaling …
The early proximalalphabetaTCR signalosome specifies thymic selection outcome through a quantitative protein interaction network.
Neier SC, Ferrer A, Wilton KM, Smith SEP, Kelcher AMH, Pavelko KD, Canfield JM, Davis TR, Stiles RJ, Chen Z, McCluskey J, Burrows SR, Rossjohn J, Hebrink DM, Carmona EM, Limper AH, Kappes DJ, Wettstein PJ, Johnson AJ, Pease LR, Daniels MA, Neuhauser C, Gil D, Schrum AG. Neier SC, et al. Among authors: ferrer a. Sci Immunol. 2019 Feb 15;4(32):eaal2201. doi: 10.1126/sciimmunol.aal2201. Sci Immunol. 2019. PMID: 30770409 Free PMC article.
Using a novel PPI network analysis, we found that early TCR-proximal signals distinguishing positive from negative selection appeared to be primarily quantitative in nature. ...Together, these data indicate that a quantitative network signaling mechanism through the …
Using a novel PPI network analysis, we found that early TCR-proximal signals distinguishing positive from negative selection appeared …
Slow angled-descent forepaw grasping (SLAG): an innate behavioral task for identification of individual experimental mice possessing functional vision.
Gil-Pagés M, Stiles RJ, Parks CA, Neier SC, Radulovic M, Oliveros A, Ferrer A, Reed BK, Wilton KM, Schrum AG. Gil-Pagés M, et al. Among authors: ferrer a. Behav Brain Funct. 2013 Aug 23;9(1):35. doi: 10.1186/1744-9081-9-35. Behav Brain Funct. 2013. PMID: 23971729 Free PMC article.
Subjecting the population to a second innate behavioral test, Dark Chamber preference, corroborated that the functional vision assessment of SLAG was valid. ...SLAG is based on a behavioral readout with a significant innate component with no requirement for t …
Subjecting the population to a second innate behavioral test, Dark Chamber preference, corroborated that the functional vision assess …
Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia.
Vairo FPE, Ferrer A, Cathcart-Rake E, King RL, Howard MT, Viswanatha DS, Klee EW, Mangaonkar AA, Patnaik MM. Vairo FPE, et al. Among authors: ferrer a. Leuk Lymphoma. 2019 May;60(5):1337-1339. doi: 10.1080/10428194.2018.1522443. Epub 2018 Nov 8. Leuk Lymphoma. 2019. PMID: 30407884 Free PMC article. No abstract available.
Variants in DOCK3 cause developmental delay and hypotonia.
Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M. Wiltrout K, et al. Among authors: ferrer a. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. doi: 10.1038/s41431-019-0397-2. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976111 Free PMC article.
We generated a protein model to further examine the effect of the two missense variants within or adjacent to the DHR-2 domain in DOCK3 and this model supports pathogenicity. Our results support a loss of function mechanism but the data on the patients with missense …
We generated a protein model to further examine the effect of the two missense variants within or adjacent to the DHR-2 domain in DOC …
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Mangaonkar AA, et al. Among authors: ferrer a. Mayo Clin Proc. 2019 Sep;94(9):1753-1768. doi: 10.1016/j.mayocp.2019.04.007. Epub 2019 Jun 27. Mayo Clin Proc. 2019. PMID: 31256854 Free PMC article.
After a thorough evaluation of known causes, family history, and appropriate clinical assays, genomic evaluation was performed in a stepwise manner, through Sanger, targeted, and/or whole-exome sequencing. ...CONCLUSION: We show clinical utility of a real-wor …
After a thorough evaluation of known causes, family history, and appropriate clinical assays, genomic evaluation was performed in …
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Saliba AN, et al. Among authors: ferrer a. Br J Haematol. 2020 Sep;190(5):e316-e320. doi: 10.1111/bjh.16897. Epub 2020 Jun 22. Br J Haematol. 2020. PMID: 32567678 No abstract available.
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Kotwal A, et al. Among authors: ferrer a. J Bone Miner Res. 2020 Apr;35(4):662-670. doi: 10.1002/jbmr.3938. Epub 2020 Jan 16. J Bone Miner Res. 2020. PMID: 31826312
We aimed to investigate the spectrum of phenotypes in a family with monoallelic and biallelic mutations of ENPP1 after identification through whole exome sequencing of a 54-year-old female with biallelic mutation of ENPP1, c.323G>T; p.Cys108Phe and c.1441C>T; …
We aimed to investigate the spectrum of phenotypes in a family with monoallelic and biallelic mutations of ENPP1 after identification …
Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Mangaonkar AA, et al. Among authors: ferrer a. Mayo Clin Proc. 2018 Jul;93(7):834-839. doi: 10.1016/j.mayocp.2018.05.015. Mayo Clin Proc. 2018. PMID: 29976374
In this article, we discuss a single-institution experience in diagnosing and managing patients with inherited STSs. In total, we identified 17 patients with short telomeres, defined by flow-fluorescence in-situ hybridization telomere lengths of less than first centile in …
In this article, we discuss a single-institution experience in diagnosing and managing patients with inherited STSs. In total, we ide …
Three rare disease diagnoses in one patient through exome sequencing.
Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Ferrer A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004390. doi: 10.1101/mcs.a004390. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31427378 Free PMC article.
We present a patient diagnosed with three different rare conditions, each explained by a pathogenic variant in a different gene. ...This patient demonstrates the importance of performing a thorough curation of exome data when presented with a co …
We present a patient diagnosed with three different rare conditions, each explained by a pathogenic variant in a differ …
909 results
Jump to page
Feedback