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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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Prevalence, Characteristics, and Association of Obstructive Sleep Apnea with Blood Pressure Control in Patients with Resistant Hypertension

Annals of the American Thoracic Society, 2019-11, Vol.16 (11), p.1414-1421

2019

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A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea

Sleep (New York, N.Y.), 2016-01, Vol.39 (1), p.35-41

2016

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A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Journal of bone and mineral research, 2016-04, Vol.31 (4), p.874-881

2016

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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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Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

Pediatric research, 2024-07, Vol.96 (2), p.365-371

2024

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An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Neurological sciences, 2023-09, Vol.44 (9), p.3303-3305

2023

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

The Journal of pediatrics, 2021-04, Vol.231, p.148-156

2021

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Predicting factors of neurodevelopmental performance in children with phenylketonuria

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1525-1529

2023

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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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A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea

Journal of sleep research, 2017-12, Vol.26 (6), p.773-781

2017

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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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Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Journal of medical genetics, 2010-03, Vol.47 (3), p.169-175

2010

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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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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

Prevalence, Characteristics, and Association of Obstructive Sleep Apnea with Blood Pressure Control in Patients with Resistant Hypertension

A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea

A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

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

Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Predicting factors of neurodevelopmental performance in children with phenylketonuria

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

A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea

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

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

The contribution of 7q33 copy number variations for intellectual disability

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