Search Results - "Chora, J.R"

Construction of a new familial hypercholesterolaemia variant data base: A systematic review for a 2015 update by Azevedo, S, Chora, J.R, Alves, A.C, Medeiros, A.M, Bourbon, M

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Will familial hypercholesterolaemia cohorts hide many more lisosomal acid lipase deficiency patients? by Chora, J.R, Alves, A.C, Medeiros, A.M, Mariano, C, Loubarinhas, G, Guerra, A, Mansilha, H, Bourbon, M

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LDLR variant classification with ClinGen Familial Hypercholesterolemia variant curation expert panel specifications by Chora, J.R., Bourbon, M.

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Personalised medicine for familial hypercholesterolemia – Pilot study by Chora, J.R., Bourbon, M.

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Pharmacogenomics of dyslipidaemia drugs in Portugal by Chora, J.R., Bourbon, M.

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Fh Phenotype: Monogenic, Polygenic Or Other Causes? by Mariano, C., Alves, A.C., Medeiros, A.M., Chora, J.R., Futema, M., Humphries, S.E., Bourbon, M.

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The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes by Mariano, Cibelle, Alves, Ana Catarina, Medeiros, Ana Margarida, Chora, Joana Rita, Antunes, Marília, Futema, Marta, Humphries, Steve E., Bourbon, Mafalda

“…Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low‐density lipoprotein cholesterol (LDL‐C) concentrations and increased…”
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Specification Of Acmg/Amp Guidelines For Variant Interpretation In Familial Hypercholesterolemia by Chora, J.R., Iacocca, M.A., Carrié, A., Leigh, S.E., Tichý, L., Kurtz, C.L., Freiberger, T., Sijbrands, E.J., Hegele, R.A., Knowles, J.W., Bourbon, M.

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Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia - A clingen fh expert panel pilot study by Chora, J.R., Iacocca, M.A., Carrie, A., Tichy, L., Leigh, S.E., DiStefano, M.T., Defesche, J., Kurtz, C.L., Sijbrands, E.J., Freiberger, T., Hegele, R.A., Knowles, J.W., Bourbon, M.

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Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel by Iacocca, M.A., Chora, J.R., Freiberger, T., Carrie, A., Sijbrands, E.J., Wand, H., Williams, M., Zimmermann, H., Leon, A., Kurtz, C.L., Tichy, L., Alves, A.C., Wang, J., Cuchel, M., Humphries, S.E., Defesche, J.C., Mata, P., Santos, R.D., Kullo, I.J., Brunham, L.R., Hegele, R.A., Knowles, J.W., Bourbon, M.

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Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? by Chora, Joana Rita, MSc, Alves, Ana Catarina, PhD, Medeiros, Ana Margarida, MSc, Mariano, Cibelle, MSc, Lobarinhas, Goreti, MD, PhD, Guerra, António, MD, PhD, Mansilha, Helena, MD, PhD, Cortez-Pinto, Helena, MD, PhD, Bourbon, Mafalda, PhD

“…Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with…”
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