Ana Grangeia

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Professora Auxiliar Convidada a tempo parcial

Universidade do Porto Faculdade de Medicina

Portugal

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Ana Grangeia is a Professora Auxiliar Convidada a tempo parcial at the Universidade do Porto Faculdade de Medicina in Portugal. Her research focuses on genetics and prenatal diagnosis, with recent articles examining conditions such as Poretti-Boltshauser Syndrome, intraventricular hemorrhage related to COL4A1, and epidermolysis bullosa associated with rare COL7A1 gene variants. Additionally, she has contributed to the understanding of various genetic syndromes and diagnostic challenges in pediatric cases.

Recent Grants

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Estudo da prevalência da Fibrose Cística e caracterização das mutações no gene CFTR na população Portuguesa

Open Date: 2013-05-01

Close Date: 2014-07-01

Ana Grangeia

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Recent Grants

Articles (22)

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

COL4A1 and Intraventricular Hemorrhage.

A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported.

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant

Abstracts from the 57th European Society of Human Genetics (ESHG) Conference

Caso de epidermólise bolhosa distrófica com variante rara do gene COL7A1

EP06.002: Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene

Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study

Correction to: Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing.

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis.

Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series

Clinical Findings on Chromosome 1 Copy Number Variations.

Cat-Eye Syndrome: A Report of Two Cases and Literature Review.

Congenital myopathies in adults: A diagnosis not to overlook.

Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

Collaborators (5)

Joana Guimarães

Joel Pinto

Anjana H.J. Welikala

Amândio Rocha-Sousa

Sofia Dória

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