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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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Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100781, Article 100781

2023

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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, 2023-01, Vol.11 (1), p.12

2023

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Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection

PloS one, 2013-10, Vol.8 (10), p.e77085-e77085

2013

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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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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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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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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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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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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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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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Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

European Endocrinology, 2020-03, Vol.16 (1), p.66-68

2020

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Diagnostic utility of inflammatory biomarkers in asthma: Exhaled nitric oxide and induced sputum eosinophil count

Respiratory medicine, 2007-11, Vol.101 (11), p.2416-2421

2007

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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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The contribution of 7q33 copy number variations for intellectual disability

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

2018

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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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Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

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

2007

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Craniofrontonasal syndrome: case report

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.16-16

2014

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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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The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.20-20

2016

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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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Síndrome de Noonan: revisão da casuística do Centro de Genética Médica Dr. Jacinto de Magalhães - CHP

Nascer e crescer, 2014-11, Vol.23 (suppl 3), p.11-11

2014

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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

Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

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)

Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection

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

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

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

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

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

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

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

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

Diagnostic utility of inflammatory biomarkers in asthma: Exhaled nitric oxide and induced sputum eosinophil count

Genomic imbalances defining novel intellectual disability associated loci

The contribution of 7q33 copy number variations for intellectual disability

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

Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

Craniofrontonasal syndrome: case report

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

The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

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

Síndrome de Noonan: revisão da casuística do Centro de Genética Médica Dr. Jacinto de Magalhães - CHP

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