Lista de obras - Moira Blyth - Dominio Público Uruguay

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

artículo científico publicado en 2014

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

artículo científico publicado en 2008

A novel 2.43 Mb deletion of 7q11.22-q11.23

artículo científico publicado en 2008

Amniotic bands in paternal half-siblings.

artículo científico publicado en 2010

Anophthalmia in fronto-facial-nasal dysplasia.

artículo científico publicado en 2011

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

artículo científico publicado en 2017

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

artículo científico publicado en 2016

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

artículo científico publicado en 2015

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

artículo científico publicado en 2015

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

artículo científico publicado en 2015

Ectopic pregnancy in primary ciliary dyskinesia

artículo científico publicado en 2008

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

artículo científico publicado en 2010

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

artículo científico publicado en 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

scientific article published on 13 August 2014

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

artículo científico publicado en 2011

Pallister-Killian syndrome: a study of 22 British patients.

artículo científico publicado en 2015

Phenotypic features of diploid/triploid mosaicism in an adult.

artículo científico publicado en 2014

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

artículo científico publicado en 2016

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

artículo científico publicado en 2016

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

artículo científico publicado en 2016

Severe Marfan syndrome due to FBN1 exon deletions

scientific article published on 01 May 2008

Severe staphylococcal scalded skin syndrome in children.

artículo científico publicado en 2007

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.

artículo científico publicado en 2008

Lista de obras de Moira Blyth

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

A novel 2.43 Mb deletion of 7q11.22-q11.23

Amniotic bands in paternal half-siblings.

Anophthalmia in fronto-facial-nasal dysplasia.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Ectopic pregnancy in primary ciliary dyskinesia

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Pallister-Killian syndrome: a study of 22 British patients.

Phenotypic features of diploid/triploid mosaicism in an adult.

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Severe Marfan syndrome due to FBN1 exon deletions

Severe staphylococcal scalded skin syndrome in children.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.