Lista de obras - Anne Slavotinek - Dominio Público Uruguay

A female infant with duplication of chromosome 2q33 to 2q37.3 ⬇️

artículo científico publicado el 1 de octubre de 2003

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

artículo científico publicado en 2010

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

artículo científico publicado en 2019

A randomized controlled trial of levodopa in patients with Angelman syndrome.

artículo científico publicado en 2017

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

artículo científico publicado en 2017

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

artículo científico publicado en 2016

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

scientific article published on 30 April 2018

ABCA12 is the major harlequin ichthyosis gene

artículo científico publicado en 2006

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

artículo científico publicado en 2013

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

artículo científico publicado en 2007

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

artículo científico publicado en 2016

Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech

scientific article published on 23 July 2020

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

artículo científico publicado en 2006

Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings

scientific article published on 07 June 2020

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

artículo científico publicado en 2020

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein

artículo científico publicado en 2014

Case report: Y;6 translocation with deletion of 6p.

artículo científico publicado en 2005

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

artículo científico publicado en 2017

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

artículo científico publicado en 2017

Clinical care models in the era of next-generation sequencing

artículo científico publicado en 2016

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

artículo científico publicado en 2010

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

artículo científico publicado en 2017

Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

scientific article published on 01 May 2018

DLX4 is associated with orofacial clefting and abnormal jaw development.

artículo científico publicado en 2015

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

artículo científico publicado en 2014

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

artículo científico publicado en 2017

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

artículo científico publicado en 2017

Early inspirations from times gone by

scientific article published on 31 July 2018

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

artículo científico publicado en 2009

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

artículo científico publicado en 2015

Exome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC) from a consanguineous population

artículo científico publicado en 2020

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

artículo científico publicado en 2014

Expansion of phenotype and genotypic data in CRB2-related syndrome

artículo científico publicado en 2016

Eye development genes and known syndromes

artículo científico publicado en 2011

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

artículo científico publicado en 2012

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

scientific article published on 18 October 2019

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

artículo científico publicado en 2012

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

scientific article published on 01 May 2015

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

artículo científico publicado en 2003

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia

article

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

artículo científico publicado en 2011

Going forward in a new world

artículo científico publicado en 2020

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

artículo científico publicado en 2017

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

artículo científico publicado en 2015

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

artículo científico publicado en 2019

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes

scientific article published on May 2010

Introducing in AJMG Part A: Genetic Syndromes in Adults

scientific article published on 26 March 2019

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

scientific article published on 16 January 2020

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

artículo científico publicado en 2007

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

artículo científico publicado en 2011

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

artículo científico publicado en 2005

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

artículo científico publicado en 2007

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

artículo científico publicado en 2009

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

artículo científico publicado en 2015

Novel microdeletion syndromes detected by chromosome microarrays

artículo científico publicado en 2008

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

artículo científico publicado en 2014

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

artículo científico publicado en 2007

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

artículo científico publicado en 2020

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

artículo científico publicado en 2022

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

artículo científico publicado en 2016

Pregnancy outcomes following exposure to onabotulinumtoxinA.

artículo científico publicado en 2015

Prenatal diagnosis of familial type I choledochal cyst

artículo científico publicado en 2006

Recognizable syndromes in the newborn period

artículo científico

Single gene disorders associated with congenital diaphragmatic hernia

artículo científico publicado en 2007

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

artículo científico publicado en 2011

The Family of Crumbs Genes and Human Disease

artículo científico publicado en 2016

The genetics of common disorders - congenital diaphragmatic hernia

artículo científico

The genetics of congenital diaphragmatic hernia

artículo científico publicado en 2005

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

artículo científico publicado en 2021

Uniparental disomy

artículo científico publicado en 2005

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish

artículo científico publicado en 2019

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans

artículo científico publicado en 2011

Lista de obras de Anne Slavotinek

A female infant with duplication of chromosome 2q33 to 2q37.3 ⬇️

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

A randomized controlled trial of levodopa in patients with Angelman syndrome.

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

ABCA12 is the major harlequin ichthyosis gene

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein

Case report: Y;6 translocation with deletion of 6p.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Clinical care models in the era of next-generation sequencing

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

DLX4 is associated with orofacial clefting and abnormal jaw development.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Early inspirations from times gone by

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Exome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC) from a consanguineous population

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Expansion of phenotype and genotypic data in CRB2-related syndrome

Eye development genes and known syndromes

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Going forward in a new world

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes

Introducing in AJMG Part A: Genetic Syndromes in Adults

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Novel microdeletion syndromes detected by chromosome microarrays

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

Pregnancy outcomes following exposure to onabotulinumtoxinA.

Prenatal diagnosis of familial type I choledochal cyst

Recognizable syndromes in the newborn period

Single gene disorders associated with congenital diaphragmatic hernia

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

The Family of Crumbs Genes and Human Disease

The genetics of common disorders - congenital diaphragmatic hernia

The genetics of congenital diaphragmatic hernia

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Uniparental disomy

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans