A5008542912- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Retinal Development and Disorders
- Genomics and Rare Diseases
- Hypertrophic osteoarthropathy and related conditions
- Retinal Diseases and Treatments
- RNA regulation and disease
- Congenital Heart Disease Studies
- Dermatological and Skeletal Disorders
- Child Nutrition and Feeding Issues
- Sexual Differentiation and Disorders
- Neurogenetic and Muscular Disorders Research
- Renal and related cancers
- Connective tissue disorders research
- Neonatal and fetal brain pathology
- Endoplasmic Reticulum Stress and Disease
- Genetic factors in colorectal cancer
- Cell Adhesion Molecules Research
- Ocular Disorders and Treatments
- Insect symbiosis and bacterial influences
- Fetal and Pediatric Neurological Disorders
- Skin and Cellular Biology Research
Hospital de São João
2019-2025
Universidade do Porto
2009-2025
Centro de Epilepsia y Neurocirugía Funcional
2025
Faculdade de Medicina do ABC
2025
Centro Hospitalar do Porto
2022-2023
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2018-2023
Centro de Genética Clínica
2010
Hôpitaux Universitaires Henri-Mondor
2006
Clinical Emergency Hospital Bucharest
2006
Aristotle University of Thessaloniki
2005
Background Permanent primary congenital hypothyroidism (CH) can be caused by thyroid dysgenesis or dyshormonogenesis. A molecular genetic study is recommended in dyshormonogenesis, syndromic and when there a family history of CH. The aim this was to identify monogenic etiology for CH selected individuals from cohort permanent Methods From an initial 79 patients with (3-19 years), 11 were analyses. Nine dyshormonogenesis (normal in-situ gland goiter) screened causative variants,...
BACKGROUND: Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) unilateral (CUAVD) congenital absence of the vas deferens remain to be evaluated. METHODS: Patient screening was carried out by PCR, denaturing gradient gel electrophoresis DNA sequencing. RESULTS: CFTR were found 18 31 (58.1%) CBAVD three four (75%) CUAVD patients. The most frequent F508del R334W G542X CUAVD, allelic frequencies (6.5%)...
Primary bilateral adrenal macronodular hyperplasia is characterized by functioning macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some mutations, including inactivating germline in armadillo repeat containing 5 (ARMC5) gene. The pathogenic variant enables physician to identify treat these patients earlier more effectively. It also noticed causative variants show different clinical spectrum,...
Cystic fibrosis is the most frequent autosomal recessive disease in Caucasian population, with an incidence of 1:2500 newborn and a frequency 1:25. The associated gene Fibrosis Transmembrane Conductance Regulator (CFTR) it encodes CFTR protein that functions as chloride (Cl(-)) channel. It found apical membrane exocrine epithelial cells, responsible for regulation movement water solutes through biological membranes. To our knowledge, there are no studies on localization different cell types...
<b><i>Background:</i></b> Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients establish their genotype–phenotype correlation. <b><i>Methods:</i></b> were recruited from Portuguese...
Abstract Wiedemann‐Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It caused pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 17 years, with phenotype concordant WSS clinical molecular diagnosis of identification novel frameshift work also highlights presence certain features patients retardation development delay should draw...
Cat-eye syndrome is a rare genetic disease that involves the proximal long (q) arm of chromosome 22. The classic clinical triad includes coloboma iris, ears, and anal malformations. This was named "cat eye" due to vertical iris. However, spectrum manifestations variable, iris may be absent in 40-50% cases. Association with congenital heart also frequent its diagnosis should raise suspicion condition. We describe two cases male infants affected by cat-eye syndrome, which no one presented...
Fernandes da Rocha, Diogo; Quental, Rita; Grangeia, Ana; Pinto Moura, Carla Author Information
Background To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, foveal hypoplasia (FH) in consanguineous Portuguese family.Materials methods Three siblings were studied underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic field (VF), optical coherence tomography...
Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis or neuropsychiatric diseases. This study aims to establish genotype-phenotype correlation, reporting CNVs 2, contributing better characterization molecular significance rare in this chromosome.To accomplish this, cross-sectional was performed using genetic...
Background: About 98% of male affected with cystic fibrosis (CF [MIM 219700]) are infertile due to bilateral absence vas deferens (CBAVD 277180]), which makes up 1-2 % all cases infertility. A previous screening the entire coding region transmembrane conductance regulator gene (CFTR 602421]) in CBAVD patients identified three novel mutations: P439S is located first nucleotide binding domain (NBD1) CFTR, whereas P1290S and E1401K NBD2. Methods: We analysed effects these mutations on CFTR...
Background Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, most cases caused pathogenic variants RLBP1 gene. The purpose this work to report phenotypic and genotypic data patient with carrying deletion Results An 8-year-old Caucasian female has been complaining nyctalopia for last 2 years. No other ocular symptoms were present. relevant past medical or familiar history was described. At clinical examination, patient’s...
Background Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset have been recognized, substantial diagnostic delays are still reported. Objectives To describe cohort of adult patients, including clinical, genetic, further characterize subgroup adult-diagnosed patients. Materials Methods We...
Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, abnormal fat distribution in distal limbs. Only few cases were previously documented. We report case of term male neonate admitted to the neonatal intensive care unit because feeding difficulties. Intrauterine growth restriction, microcephaly, bilateral equinovarus foot diagnosed second trimester, prenatal...
Abstract Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 ( SLCO2A1) genes. However, dominant transmission has been described some families with incomplete penetrance. PHO usually starts childhood adolescence, presenting digital clubbing,...
To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in KCNV2 gene resulting "cone dystrophy supernormal rod responses" (CDSRR).Retrospective clinical revision five individuals from unrelated CDSRR. Ophthalmological examination was described all patients included color vision testing, fundus photography, autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG),...
PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in gene and characterized multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy movement disorders.
Systemic autoinflammatory diseases (SAIDs) are a group of disorders that constitute rare cause recurrent fevers. Recurrent fevers defined as periodic febrile episodes lasting from days to weeks, separated by symptom-free intervals variable duration. They present multiple etiologies, representing diagnostic challenge. Mevalonate kinase deficiency (MKD) is genetic SAID, hereditary fever syndrome (HRF) caused pathogenic variants in the mevalonate (MVK) gene. It characterized early onset flares,...