Lista de obras - Karen E Heath - Dominio Público Uruguay

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

artículo científico publicado en 1998

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

artículo científico publicado en 2014

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

artículo científico publicado en 2001

A new overgrowth syndrome is due to mutations in RNF125.

artículo científico publicado en 2014

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX

artículo científico publicado en 2011

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

artículo científico publicado en 2016

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

artículo científico publicado en 2005

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

artículo científico publicado en 2013

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association ⬇️

artículo científico publicado el 29 de junio de 2012

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

scientific article published on 25 February 2015

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

scientific article published on 26 October 2020

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

artículo científico publicado en 2017

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

artículo científico publicado en 2010

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

artículo científico publicado en 2009

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

artículo científico publicado en 2006

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

artículo científico publicado en 2016

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

artículo científico publicado en 2017

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis

artículo científico publicado en 2013

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

artículo científico publicado en 2010

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

artículo científico publicado en 2017

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

artículo científico publicado en 2012

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

artículo científico publicado en 2016

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

artículo científico publicado en 2007

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature

scientific article published on 11 December 2020

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

artículo científico publicado en 2016

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

artículo científico publicado en 2011

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

artículo científico publicado en 2014

FGF9 mutation causes craniosynostosis along with multiple synostoses

artículo científico publicado en 2017

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations

artículo científico publicado en 2011

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

artículo científico publicado en 2020

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

artículo científico publicado en 2015

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

artículo científico publicado en 2018

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

artículo científico publicado en 2014

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

artículo científico publicado en 2017

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

artículo científico publicado en 2011

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

artículo científico publicado en 2018

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

artículo científico publicado en 2011

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

artículo científico publicado en 2010

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

artículo científico publicado en 2012

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

artículo científico publicado en 2015

Identification of the third FGF9 variant in a girl with multiple synostosis - comparison of the genotype:phenotype of FGF9 variants in humans and mice

artículo científico publicado en 2020

KLF6, a candidate tumor suppressor gene mutated in prostate cancer

artículo científico publicado en 2001

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

artículo científico publicado en 2003

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

artículo científico publicado en 2016

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

artículo científico publicado en 2019

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

article

MYH9 spectrum of autosomal-dominant giant platelet syndromes: Unexpected association with fibulin-1 variant-D inactivation

artículo científico publicado en 2003

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

article

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome

article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

scientific article published on 08 January 2014

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

artículo científico publicado en 2001

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

article

Primary Acid-Labile Subunit Deficiency due to RecessiveIGFALSMutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

artículo científico publicado en 2008

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

artículo científico publicado en 2015

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

scientific article published on 01 June 1997

Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier

artículo científico publicado en 2012

Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting

article

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

artículo científico publicado en 1996

Reply to the article entitled "Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report" by Galbiati et al.

artículo científico publicado en 2014

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

artículo científico publicado en 2011

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

artículo científico publicado en 2015

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion

artículo científico publicado en 2013

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

artículo científico publicado en 1999

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

artículo científico publicado en 1997

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

artículo científico publicado en 2015

Lista de obras de Karen E Heath

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

A new overgrowth syndrome is due to mutations in RNF125.

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association ⬇️

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

FGF9 mutation causes craniosynostosis along with multiple synostoses

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Identification of the third FGF9 variant in a girl with multiple synostosis - comparison of the genotype:phenotype of FGF9 variants in humans and mice

KLF6, a candidate tumor suppressor gene mutated in prostate cancer

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

MYH9 spectrum of autosomal-dominant giant platelet syndromes: Unexpected association with fibulin-1 variant-D inactivation

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Primary Acid-Labile Subunit Deficiency due to RecessiveIGFALSMutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier

Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

Reply to the article entitled "Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report" by Galbiati et al.

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.