Lista de obras - Susan A. Berry - Dominio Público Uruguay

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

artículo científico publicado en 1995

A Case of Satoyoshi Syndrome: A Multisystem Disorder ⬇️

artículo científico publicado el 1 de octubre de 2003

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

artículo científico publicado en 2004

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

artículo científico publicado en 1988

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

artículo científico publicado en 2016

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

artículo científico publicado el 1 de agosto de 1992

A novel microdeletion/microduplication syndrome of 19p13.13.

artículo científico publicado en 2010

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

scientific article published on 10 May 2019

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

artículo científico publicado en 2013

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate

artículo científico publicado en 2013

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

artículo científico publicado en 2017

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

artículo científico publicado en 2018

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

artículo científico publicado en 2018

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

artículo científico publicado en 2014

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

scientific article published on 01 November 1999

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

artículo científico publicado en 2010

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

artículo científico publicado en 1996

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

artículo científico publicado en 2018

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

artículo científico publicado en 2016

Definition of a high affinity growth hormone DNA response element

artículo científico publicado en 1999

Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion

artículo científico publicado en 2011

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

scientific article published on 24 July 2019

Developmental regulation of the hepatic acute phase response.

artículo científico publicado en 1991

Differential endocrine regulation of alpha 2U-globulin messenger ribonucleic acid activity: effect of age at hypophysectomy

artículo científico publicado en 1986

Effects of elevated serum insulinlike growth factor-II on growth hormone and insulinlike growth factor-I mRNA and secretion

artículo científico publicado en 1989

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

artículo científico publicado en 2013

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

scientific article published on 30 September 2019

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

artículo científico publicado en 2011

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. ⬇️

artículo científico publicado en 2011

Expanded newborn screening identifies maternal primary carnitine deficiency

scientific article published on 28 November 2006

Foundation of the Newborn Screening Translational Research Network and its tools for research

artículo científico publicado en 2018

Germ cell localization of a testicular growth hormone-releasing hormone-like factor.

artículo científico publicado en 1993

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

artículo científico publicado en 2015

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

artículo científico publicado en 2014

Growth Hormone Induction of Hepatic Serine Protease Inhibitor 2.1 Transcription Is Mediated by a Stat5-related Factor Binding Synergistically to Two γ-Activated Sites

artículo científico publicado en 1995

Growth failure in cholestatic rats: the effect of malnutrition on insulin-like growth factor I.

artículo científico publicado en 1989

Hair Protein Patterns in a New Autosomal Dominant Ectodermal Dysplasia

artículo científico publicado en 1987

Hepatic fatty acid-binding protein mRNA is regulated by growth hormone

artículo científico publicado en 1993

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

artículo científico publicado en 2009

Hormonal regulation of serum alpha1-antitrypsin and hepatic alpha1-antitrypsin mRNA in rats

artículo científico publicado en 1987

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

artículo científico publicado en 2019

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

artículo científico publicado en 2016

Including ELSI research questions in newborn screening pilot studies

scientific article published on 13 August 2018

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

artículo científico publicado en 2006

Increased placental iron regulatory protein-1 expression in diabetic pregnancies complicated by fetal iron deficiency

artículo científico publicado en 1999

Infant with multiple congenital anomalies and deletion (9)(q34.3).

artículo científico publicado en 1994

Interaction of growth hormone-releasing hormone with the insulin-like growth-factors during prenatal development in the rat.

artículo científico publicado en 1991

Klippel-Trenaunay syndrome

artículo científico publicado en 1998

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

artículo científico publicado en 2015

Long-term follow-up of newborn screening patients

artículo científico publicado en 2010

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

artículo científico publicado en 2019

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need

artículo científico publicado en 2020

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

artículo científico publicado en 1997

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions

artículo científico publicado en 2018

Newborn Screening

artículo científico publicado en 2015

Newborn blood spot screening and genetic services: A survey of Minnesota primary care physicians

scientific article published on 01 October 2005

Newborn screening 50 years later: access issues faced by adults with PKU.

artículo científico publicado en 2013

Ontogeny and pituitary regulation of testicular growth hormone-releasing hormone-like messenger ribonucleic acid

artículo científico publicado en 1990

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations

artículo científico publicado en 1997

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

artículo científico publicado en 2016

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

artículo científico publicado en 2016

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

artículo científico publicado en 2015

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

artículo científico publicado en 2014

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

artículo científico publicado en 1995

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

artículo científico publicado en 2018

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control

artículo científico publicado en 2010

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

artículo científico

Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders

scientific article published on 15 June 2013

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

scientific article published on 27 March 2018

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

scientific article published on 01 January 1993

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

artículo científico publicado en 2003

Recurrent Priapism During Treatment With Clozapine and Olanzapine

artículo científico publicado en 2000

Regulation of Spi 2.1 and 2.2 gene expression after turpentine inflammation: discordant responses to IL-6.

artículo científico publicado en 1999

Regulation of purine metabolism: a comparative study of the kinetic properties of adenylosuccinate synthetases from various sources

artículo científico publicado en 1977

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

artículo científico publicado en 2015

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

artículo científico publicado en 2015

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years

artículo científico publicado en 2017

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

artículo científico publicado en 2015

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

artículo científico publicado en 2008

Single central incisor in familial holoprosencephaly

artículo científico publicado en 1984

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

article

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

artículo científico publicado en 2018

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

artículo científico publicado en 2007

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

artículo científico publicado en 2010

The quality of metabolic newborn screening specialty care services: results of a survey of primary care providers.

artículo científico publicado en 2012

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.

artículo científico publicado en 1989

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

artículo científico publicado en 2015

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

artículo científico publicado en 2012

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

scientific article published on 11 February 2019

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

artículo científico publicado en 2011

Yin-yang 1 and glucocorticoid receptor participate in the Stat5-mediated growth hormone response of the serine protease inhibitor 2.1 gene

scientific journal article

Lista de obras de Susan A. Berry

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

A Case of Satoyoshi Syndrome: A Multisystem Disorder ⬇️

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

A novel microdeletion/microduplication syndrome of 19p13.13.

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

Definition of a high affinity growth hormone DNA response element

Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Developmental regulation of the hepatic acute phase response.

Differential endocrine regulation of alpha 2U-globulin messenger ribonucleic acid activity: effect of age at hypophysectomy

Effects of elevated serum insulinlike growth factor-II on growth hormone and insulinlike growth factor-I mRNA and secretion

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. ⬇️

Expanded newborn screening identifies maternal primary carnitine deficiency

Foundation of the Newborn Screening Translational Research Network and its tools for research

Germ cell localization of a testicular growth hormone-releasing hormone-like factor.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Growth Hormone Induction of Hepatic Serine Protease Inhibitor 2.1 Transcription Is Mediated by a Stat5-related Factor Binding Synergistically to Two γ-Activated Sites

Growth failure in cholestatic rats: the effect of malnutrition on insulin-like growth factor I.

Hair Protein Patterns in a New Autosomal Dominant Ectodermal Dysplasia

Hepatic fatty acid-binding protein mRNA is regulated by growth hormone

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Hormonal regulation of serum alpha1-antitrypsin and hepatic alpha1-antitrypsin mRNA in rats

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

Including ELSI research questions in newborn screening pilot studies

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Increased placental iron regulatory protein-1 expression in diabetic pregnancies complicated by fetal iron deficiency

Infant with multiple congenital anomalies and deletion (9)(q34.3).

Interaction of growth hormone-releasing hormone with the insulin-like growth-factors during prenatal development in the rat.

Klippel-Trenaunay syndrome

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Long-term follow-up of newborn screening patients

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions

Newborn Screening

Newborn blood spot screening and genetic services: A survey of Minnesota primary care physicians

Newborn screening 50 years later: access issues faced by adults with PKU.

Ontogeny and pituitary regulation of testicular growth hormone-releasing hormone-like messenger ribonucleic acid

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Recurrent Priapism During Treatment With Clozapine and Olanzapine

Regulation of Spi 2.1 and 2.2 gene expression after turpentine inflammation: discordant responses to IL-6.

Regulation of purine metabolism: a comparative study of the kinetic properties of adenylosuccinate synthetases from various sources

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders