Lista de obras - Stephen Twigg - Dominio Público Uruguay

A Genetic-Pathophysiological Framework for Craniosynostosis

artículo científico publicado en 2015

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

artículo científico publicado en 2016

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

artículo científico publicado en 2017

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

artículo científico publicado en 1998

A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay

artículo científico publicado en 2002

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

artículo científico publicado en 2007

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

artículo científico publicado en 2014

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

artículo científico publicado en 2017

A prime-boost immunisation regimen using DNA followed by recombinant modified vaccinia virus Ankara induces strong cellular immune responses against the Plasmodium falciparum TRAP antigen in chimpanzees

artículo científico publicado en 2001

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

artículo científico publicado en 2015

African swine fever virus genome content and variability.

artículo científico publicado en 1993

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

artículo científico publicado en 2013

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis

artículo científico publicado en 1999

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

artículo científico publicado en 1998

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

artículo científico publicado en 2014

Diagnostic value of exome and whole genome sequencing in craniosynostosis

artículo científico publicado en 2016

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

artículo científico publicado en 2018

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

artículo científico publicado en 2011

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

artículo científico publicado en 2019

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

article

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

artículo científico publicado en 2004

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Functional analysis of natural mutations in two TWIST protein motifs

artículo científico publicado en 2005

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

artículo científico publicado en 2000

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

artículo científico publicado en 2015

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

artículo científico publicado en 2017

Hearing loss in a mouse model of Muenke syndrome

artículo científico publicado en 2008

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

artículo científico publicado en 2017

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

artículo científico publicado en 2016

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

artículo científico publicado en 2017

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

artículo científico publicado en 2014

Letters to the Editor

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

artículo científico publicado en 2017

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

artículo científico publicado en 2003

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

artículo científico publicado en 2012

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

artículo científico publicado en 2012

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

artículo científico publicado en 2004

New insights into craniofacial malformations

artículo científico publicado en 2015

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

artículo científico publicado en 2013

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

artículo científico publicado en 2010

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

artículo científico publicado en 2013

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

artículo científico publicado en 2009

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics

artículo científico publicado en 2003

The African swine fever virus protein j4R binds to the alpha chain of nascent polypeptide-associated complex.

artículo científico publicado en 2002

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

artículo científico publicado en 2024

Lista de obras de Stephen Twigg

A Genetic-Pathophysiological Framework for Craniosynostosis

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

A prime-boost immunisation regimen using DNA followed by recombinant modified vaccinia virus Ankara induces strong cellular immune responses against the Plasmodium falciparum TRAP antigen in chimpanzees

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

African swine fever virus genome content and variability.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Functional analysis of natural mutations in two TWIST protein motifs

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Hearing loss in a mouse model of Muenke syndrome

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Letters to the Editor

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

New insights into craniofacial malformations

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics

The African swine fever virus protein j4R binds to the alpha chain of nascent polypeptide-associated complex.

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients