Lista de obras - Gerarda Cappuccio - Dominio Público Uruguay

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

artículo científico publicado en 2013

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

artículo científico publicado en 2017

A pilot clinical trial with losartan in Myhre syndrome

artículo científico publicado en 2020

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

artículo científico publicado en 2020

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

artículo científico publicado en 2018

An extremely severe phenotype attributed to WDR81 nonsense mutations

artículo científico publicado en 2017

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

artículo científico publicado en 2021

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

artículo científico publicado en 2017

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

artículo científico publicado en 2014

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

artículo científico publicado en 2012

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

scientific article published on 06 February 2020

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

artículo científico publicado en 2012

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

artículo científico publicado en 2013

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

artículo científico publicado en 2016

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

artículo científico publicado en 2016

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

artículo científico publicado en 2015

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

artículo científico publicado en 2017

Expansion of the phenotype of lateral meningocele syndrome

artículo científico publicado en 2020

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

artículo científico publicado en 2012

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

artículo científico publicado en 2017

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

artículo científico publicado el 17 de marzo de 2013

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

artículo científico publicado en 2014

Long-term follow-up of an individual with ITPR1-related disorder

artículo científico publicado en 2020

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

scientific article published on 05 September 2019

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

artículo científico publicado el 30 de octubre de 2012

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

artículo científico publicado en 2011

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

artículo científico publicado en 2019

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

artículo científico publicado en 2016

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

scientific article published on 05 March 2019

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

artículo científico publicado en 2018

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

artículo científico publicado en 2014

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

artículo científico publicado en 2019

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 2020

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

artículo científico publicado en 2019

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

artículo científico publicado en 2017

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

scientific article published on 06 May 2019

Sphingolipid Metabolism Perturbations in Rett Syndrome

scientific article published on 10 October 2019

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications.

artículo científico publicado en 2019

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

scientific article published on 01 April 2019

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

artículo científico publicado en 2011

Lista de obras de Gerarda Cappuccio

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

A pilot clinical trial with losartan in Myhre syndrome

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

An extremely severe phenotype attributed to WDR81 nonsense mutations

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Expansion of the phenotype of lateral meningocele syndrome

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Long-term follow-up of an individual with ITPR1-related disorder

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Rubinstein-Taybi syndrome in diverse populations

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

Sphingolipid Metabolism Perturbations in Rett Syndrome

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.