Lista de obras - Karen Temple - Dominio Público Uruguay

3D analysis of facial morphology.

artículo científico publicado en 2004

6q24 transient neonatal diabetes.

artículo científico publicado en 2010

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

artículo científico publicado en 2019

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 familial disorder of altered DNA-methylation

artículo científico publicado en 2014

A female case of Sedaghatian type spondylometaphyseal dysplasia

scientific article published on 01 May 2003

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

artículo científico publicado en 2006

A primary care specialist genetics service: a cluster-randomised factorial trial.

artículo científico publicado en 2012

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

artículo científico publicado en 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

artículo científico publicado en 2014

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

artículo científico publicado en 2004

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

artículo científico publicado en 2004

An imprinted gene(s) for diabetes?

scientific article published on 01 February 1995

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

artículo científico publicado en 2017

Assisted reproductive therapies and imprinting disorders--a preliminary British survey

artículo científico publicado en 2005

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 ⬇️

artículo científico publicado el 24 de agosto de 2011

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

artículo científico publicado en 2005

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients

artículo científico publicado en 2015

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

scientific article published on 01 October 2004

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

artículo científico publicado en 2013

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

artículo científico publicado en 2013

Clinical utility gene card for: Silver–Russell syndrome ⬇️

artículo científico publicado el 8 de diciembre de 2010

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

artículo científico publicado en 2014

Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14.

artículo científico publicado en 2010

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

artículo científico publicado en 2002

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

artículo científico publicado en 2015

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

artículo científico publicado en 2009

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

artículo científico publicado en 2009

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

artículo científico publicado en 2011

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

artículo científico publicado en 2016

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

artículo científico publicado en 2002

Epigenotype-phenotype correlations in Silver-Russell syndrome

artículo científico publicado en 2010

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

artículo científico publicado en 2006

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

artículo científico publicado en 2016

Evaluation of NSD2 and NSD3 in overgrowth syndromes

scientific article published on 01 February 2005

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

artículo científico publicado en 2017

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

artículo científico publicado en 2011

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

artículo científico publicado en 2010

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

artículo científico publicado en 2016

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars

scientific article published on 07 August 2018

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

artículo científico publicado en 2014

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

artículo científico publicado en 2016

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

artículo científico publicado en 2018

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

artículo científico publicado en 2012

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

artículo científico publicado en 2014

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

artículo científico publicado en 2009

Human imprinting disorders: Principles, practice, problems and progress

artículo científico publicado en 2017

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

artículo científico publicado en 2017

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2008

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

artículo científico publicado en 2004

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

artículo científico publicado en 2015

Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.

artículo científico publicado en 2007

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

article

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome

artículo científico publicado en 2010

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

artículo científico publicado en 2009

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

artículo científico publicado en 2018

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

artículo científico publicado en 2005

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

artículo científico publicado en 2015

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

artículo científico publicado en 2015

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

artículo científico publicado en 2018

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

artículo científico publicado en 2014

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

artículo científico publicado en 2008

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

artículo científico publicado en 2015

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 2013

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

scientific article published on 26 November 2008

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

artículo científico

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

artículo científico publicado en 2015

Neonatal diabetes mellitus

scientific article published on 01 June 2002

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

scientific article published on 01 May 2008

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

artículo científico publicado el 4 de enero de 2012

Observations�Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus

artículo científico publicado en 2001

Pallister-Killian syndrome: a study of 22 British patients.

artículo científico publicado en 2015

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

artículo científico publicado en 2010

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Persistent Fetal Vasculature and Severe Protein C Deficiency.

artículo científico publicado en 2010

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

artículo científico publicado en 2020

Prematurity and Genetic Testing for Neonatal Diabetes.

artículo científico publicado en 2016

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

artículo científico publicado en 2015

Recent Advances in Imprinting Disorders.

artículo científico publicado en 2016

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

artículo científico publicado en 2005

Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion

artículo científico publicado en 2015

Skin spots and heart tumors

artículo científico publicado en 2001

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

artículo científico publicado en 2015

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

artículo científico publicado en 2014

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

artículo científico publicado en 2015

Transient neonatal diabetes mellitus type 1.

artículo científico publicado en 2010

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

artículo científico publicado en 2012

Transient neonatal diabetes, a disorder of imprinting.

artículo científico publicado en 2002

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

scientific article published on 01 August 2000

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

scientific article published on 01 January 2001

Lista de obras de Karen Temple

3D analysis of facial morphology.

6q24 transient neonatal diabetes.

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

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

A familial disorder of altered DNA-methylation

A female case of Sedaghatian type spondylometaphyseal dysplasia

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

A primary care specialist genetics service: a cluster-randomised factorial trial.

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

An imprinted gene(s) for diabetes?

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Assisted reproductive therapies and imprinting disorders--a preliminary British survey

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 ⬇️

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Clinical utility gene card for: Silver–Russell syndrome ⬇️

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14.

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

Epigenotype-phenotype correlations in Silver-Russell syndrome

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Evaluation of NSD2 and NSD3 in overgrowth syndromes

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Human imprinting disorders: Principles, practice, problems and progress

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Mutations in PIK3R1 cause SHORT syndrome

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Neonatal diabetes mellitus

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

Observations�Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus

Pallister-Killian syndrome: a study of 22 British patients.

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

Pathogenicity and selective constraint on variation near splice sites

Persistent Fetal Vasculature and Severe Protein C Deficiency.

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood