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
2000 1
2002 1
2005 1
2006 2
2007 2
2008 1
2009 2
2010 1
2011 4
2012 2
2013 1
2014 3
2015 3
2016 2
2018 2
2020 2
2021 2
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Results by year

Filters applied: . Clear all
Page 1
A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.
Costa T, Stef M, Santos LH, Medeiros AM, Monteiro C, Miyajima V, Mesquita V, Carlos LM, Brunetta DM. Costa T, et al. Among authors: stef m. Transfusion. 2023 Jun;63(6):E36-E37. doi: 10.1111/trf.17321. Epub 2023 Apr 6. Transfusion. 2023. PMID: 37021677 No abstract available.
Two new RHD alleles with deletions spanning multiple exons.
Matteocci A, Monge-Ruiz J, Stef M, Apraiz I, Herrera-Del-Val L, Mancuso T, Fennell K, Lopez M, Larizgoitia-Martin Y, Nespoli G, Rubia-Tejero M, Collaretti A, Pierelli L, Ochoa-Garay G. Matteocci A, et al. Among authors: stef m. Transfusion. 2021 Mar;61(3):682-686. doi: 10.1111/trf.16199. Epub 2020 Nov 25. Transfusion. 2021. PMID: 33241598
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Benito-Vicente A, Uribe KB, Larrea-Sebal A, Palacios L, Cenarro A, Calle X, Galicia-Garcia U, Jebari-Benslaiman S, Sánchez-Hernández RM, Stef M, Lambert G, Civeira F, Martín C. Benito-Vicente A, et al. Among authors: stef m. Arterioscler Thromb Vasc Biol. 2022 Jul;42(7):e203-e216. doi: 10.1161/ATVBAHA.122.315499. Epub 2022 May 5. Arterioscler Thromb Vasc Biol. 2022. PMID: 35510551
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M. Palacios L, et al. Among authors: stef m. Atherosclerosis. 2012 Mar;221(1):137-42. doi: 10.1016/j.atherosclerosis.2011.12.021. Epub 2011 Dec 23. Atherosclerosis. 2012. PMID: 22244043
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M. Sánchez-Hernández RM, et al. Among authors: stef m. Circ Cardiovasc Genet. 2016 Dec;9(6):504-510. doi: 10.1161/CIRCGENETICS.116.001545. Epub 2016 Oct 26. Circ Cardiovasc Genet. 2016. PMID: 27784735
29 results