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New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Journal of human genetics, 2015-06, Vol.60 (6), p.305-312

2015

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A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study

BMC pulmonary medicine, 2022-01, Vol.22 (1), p.38-38, Article 38

2022

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Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Egyptian Journal of Medical Human Genetics, 2024-09, Vol.25 (1), p.99, Article 99

2024

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Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Biomedicines, 2022-11, Vol.10 (12), p.3078

2022

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Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea

The European respiratory journal, 2018-03, Vol.51 (3), p.1701885-1701885

2018

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A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Biomedicines, 2022-12, Vol.11 (1), p.12

2022

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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Clinical case reports, 2020-12, Vol.8 (12), p.2476-2482

2020

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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Acta medica portuguesa, 2019-08, Vol.32 (7-8), p.529-535

2019

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Impact of OSA on biological markers in morbid obesity and metabolic syndrome

Journal of clinical sleep medicine, 2014-03, Vol.10 (3), p.263-270

2014

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Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

Archivos de bronconeumología (English ed.), 2018-10, Vol.54 (10), p.518-523

2018

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

American journal of human genetics, 2022-02, Vol.109 (2), p.345-360

2022

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Measurement of asthma control according to Global Initiative for Asthma guidelines: a comparison with the Asthma Control Questionnaire

Respiratory research, 2012-06, Vol.13 (1), p.50-50, Article 50

2012

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Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

JBRA assisted reproduction, 2023, Vol.27 (2), p.180-184

2023

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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Measurement of fraction of exhaled nitric oxide with the portable NIOX-MINO monitor in healthy adults

Archivos de bronconeumología, 2007-03, Vol.43 (3), p.176-179

2007

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The contribution of 7q33 copy number variations for intellectual disability

Neurogenetics, 2018-01, Vol.19 (1), p.27-40

2018

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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Nature genetics, 2000-03, Vol.24 (3), p.275-278

2000

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Determining the alveolar component of nitric oxide in exhaled air: procedures and reference values for healthy persons

Archivos de bronconeumología, 2009-03, Vol.45 (3), p.145-149

2009

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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.203-214

2015

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A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Journal of clinical medicine, 2014-07, Vol.3 (3), p.838-848

2014

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Sugar-Lowering Drugs for Type 2 Diabetes Mellitus and Metabolic Syndrome-Review of Classical and New Compounds: Part-I

Pharmaceuticals (Basel, Switzerland), 2019-10, Vol.12 (4), p.152

2019

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Restoring the epigenome in Alzheimer's disease: advancing HDAC inhibitors as therapeutic agents

Drug discovery today, 2024-07, Vol.29 (7), p.104052, Article 104052

2024

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Aspirin Affects MDA-MB-231 Vesicle Production and Their Capacity to Induce Fibroblasts towards a Pro-Invasive State

International journal of molecular sciences, 2023-07, Vol.24 (15), p.12020

2023

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Drug-Cannabinoid Interactions in Selected Therapeutics for Symptoms Associated with Epilepsy, Autism Spectrum Disorder, Cancer, Multiple Sclerosis, and Pain

Pharmaceuticals (Basel, Switzerland), 2024-05, Vol.17 (5), p.613

2024

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Effect of obstructive sleep apnoea and its treatment with continuous positive airway pressure on the prevalence of cardiovascular events in patients with acute coronary syndrome (ISAACC study): a randomised controlled trial

The lancet respiratory medicine, 2020-04, Vol.8 (4), p.359-367

2020

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New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study

Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Impact of OSA on biological markers in morbid obesity and metabolic syndrome

Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Measurement of asthma control according to Global Initiative for Asthma guidelines: a comparison with the Asthma Control Questionnaire

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

Genomic imbalances defining novel intellectual disability associated loci

Measurement of fraction of exhaled nitric oxide with the portable NIOX-MINO monitor in healthy adults

The contribution of 7q33 copy number variations for intellectual disability

Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Determining the alveolar component of nitric oxide in exhaled air: procedures and reference values for healthy persons

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Sugar-Lowering Drugs for Type 2 Diabetes Mellitus and Metabolic Syndrome-Review of Classical and New Compounds: Part-I

Restoring the epigenome in Alzheimer's disease: advancing HDAC inhibitors as therapeutic agents

Aspirin Affects MDA-MB-231 Vesicle Production and Their Capacity to Induce Fibroblasts towards a Pro-Invasive State

Drug-Cannabinoid Interactions in Selected Therapeutics for Symptoms Associated with Epilepsy, Autism Spectrum Disorder, Cancer, Multiple Sclerosis, and Pain

Effect of obstructive sleep apnoea and its treatment with continuous positive airway pressure on the prevalence of cardiovascular events in patients with acute coronary syndrome (ISAACC study): a randomised controlled trial

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