List of works - Cristina Dias

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

scientific article published in January 2010

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

scientific article published on 28 February 2012

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

scientific article published on 14 February 2011

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

scientific article published on 9 July 2013

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

scientific article

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

scientific article

Familial impairment of vocal cord mobility in childhood with clubfoot

article

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

scientific article

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

scientific article published on 01 July 2019

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

scientific article

Novel Mutations in FA2H-Associated Neurodegeneration

scientific article published on 10 September 2012

Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

scientific article published on 15 August 2017

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

scientific article published on 10 June 2010

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

scientific article published on 27 February 2013

Revealing the inner workings of organoids.

scientific article published on 24 April 2017

List of works by Cristina Dias

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

Familial impairment of vocal cord mobility in childhood with clubfoot

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

Novel Mutations in FA2H-Associated Neurodegeneration

Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Revealing the inner workings of organoids.