Lista de obras - John Pappas - Dominio Público Uruguay

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

scientific journal article

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome

scientific article published on 01 October 2004

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

artículo científico publicado en 2021

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

artículo científico publicado en 2017

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya

artículo científico publicado en 2013

Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome

scientific article published on 01 December 2011

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

artículo científico publicado en 1998

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

artículo científico publicado en 2015

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy

artículo científico publicado en 2013

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

artículo científico publicado en 2009

Expansion of phenotype and genotypic data in CRB2-related syndrome

artículo científico publicado en 2016

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

artículo científico publicado en 2017

Genotype-phenotype correlation at codon 1740 of SETD2

artículo científico publicado en 2020

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

artículo científico publicado en 2018

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

artículo científico publicado en 2009

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

scientific article published on 27 May 2019

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene

scientific article published on 11 September 2019

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent

article

Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers

scientific article published on 21 December 2017

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

artículo científico publicado en 2017

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation

artículo científico publicado en 2005

Potocki-Lupski syndrome in conjunction with bilateral clubfoot

artículo científico publicado en 2015

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

scientific article published on 17 October 2019

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

artículo científico publicado en 2019

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

artículo científico publicado en 2009

The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

artículo científico

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

artículo científico publicado en 2013

UPD detection using homozygosity profiling with a SNP genotyping microarray

scientific article published on 15 March 2011

Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene

artículo científico publicado en 2016

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

Variants of alpha 1-antitrypsin in Puerto Rican children with asthma

scientific article published on 01 March 1993

Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature

artículo científico publicado en 2012

Lista de obras de John Pappas

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya

Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

Expansion of phenotype and genotypic data in CRB2-related syndrome

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Genotype-phenotype correlation at codon 1740 of SETD2

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Germline AGO2 mutations impair RNA interference and human neurological development

Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent

Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation

Potocki-Lupski syndrome in conjunction with bilateral clubfoot

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

UPD detection using homozygosity profiling with a SNP genotyping microarray

Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Variants of alpha 1-antitrypsin in Puerto Rican children with asthma

Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature