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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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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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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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Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges

Endocrine, metabolic & immune disorders drug targets, 2023-12, Vol.24

2023

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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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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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Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital

Endocrine, metabolic & immune disorders drug targets, 2023-09, Vol.23

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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The contribution of 7q33 copy number variations for intellectual disability

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

2018

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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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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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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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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 novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.15-15

2016

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Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.14-14

2015

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Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.23-24

2015

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Translocação (X;10) aparentemente equilibrada de novo no sexo feminino: caso clínico

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

2014

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MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.18-18

2014

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Distal XQ27->Q28 duplication and functional disomy: clinical and cytogenetic characterization

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.21-21

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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Respuesta de los autores

Archivos de bronconeumología, 2008-10, Vol.44 (10), p.580-580

2008

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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

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

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

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges

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

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

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital

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

Long-term effect of obstructive sleep apnoea management on blood pressure in patients with resistant hypertension: the SARAH study

The contribution of 7q33 copy number variations for intellectual disability

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

Craniofrontonasal syndrome: case report

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

THE EFFECT OF OBSTRUCTIVE SLEEP APNEA ON SUBCLINICAL TARGET ORGAN DAMAGE IN PATIENTS WITH RESISTANT HYPERTENSION

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

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

A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy

Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Translocação (X;10) aparentemente equilibrada de novo no sexo feminino: caso clínico

MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Distal XQ27->Q28 duplication and functional disomy: clinical and cytogenetic characterization

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

Respuesta de los autores

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