List of works - Jorge, P.

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

scientific article published on 24 July 2014

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

scientific article

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

scientific article published on 27 October 2016

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

scientific article

Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

scientific article published on 14 November 2015

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

scientific article

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

scientific article published on 22 November 2018

Intellectual disability genomics: current state, pitfalls and future challenges

publication published on 20 December 2021

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

article

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

article

Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein

scientific article published on 01 December 1996

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

scientific article published on 10 December 2020

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

scientific article published in June 2011

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

scientific article published on March 2002

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

scientific article published on 29 August 2017

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

scientific article published on 25 February 2015

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

scientific article published on 30 July 2020

X-linked adrenoleukodystrophy in patients with idiopathic addison disease

scientific article published on 01 August 1994

List of works by Jorge, P.

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

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

Intellectual disability genomics: current state, pitfalls and future challenges

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

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

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

X-linked adrenoleukodystrophy in patients with idiopathic addison disease