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Ana Grangeia

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Professora Auxiliar Convidada a tempo parcial

Universidade do Porto Faculdade de Medicina

Portugal

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Professors in Portugal Professors in Biostatistics Biostatistics professors in Portugal

About

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

Grant: Close

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

Grant: Close

Projecto Estratégico - UI 51 - 2011-2012

Open Date: 2011-01-01

Close Date: 2013-12-31

Articles (25)

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2020

Collaborators (8)

Larysa Sheiko

Associate Professor

ukraine; shupyk national healthcare university of ukraine

UKRAINE

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Joana Guimarães

University of Porto

PORTUGAL

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Joel Pinto

Assistant Professor

Polytechnic Institute of Porto

PORTUGAL

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Alberto Mota

Professor Catedrátrico

University of Porto

PORTUGAL

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Anjana H.J. Welikala

Lecturer

Edith Cowan University

AUSTRALIA

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Amândio Rocha-Sousa

Associated Professor of Ophthalmology

Universidade do Porto Faculdade de Medicina

PORTUGAL

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Sofia Dória

Professor

PORTUGAL

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Ljudmila Brishevac

Assistant Professor

ukraine; shupyk national healthcare university of ukraine

UKRAINE

View details

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Ana Grangeia

Research Interests

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About

Recent Grants

Articles (25)

A Newborn Presenting with Alternating Bradycardia and Tachycardia

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant

Exploring the phenotypic spectrum of the <i>YARS1</i> p.(Arg367Trp) variant - first European family and literature review

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 (8)

Larysa Sheiko

Joana Guimarães

Joel Pinto

Alberto Mota

Anjana H.J. Welikala

Amândio Rocha-Sousa

Sofia Dória

Ljudmila Brishevac

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