Lista de obras - Dennis E Bulman - Dominio Público Uruguay

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) ⬇️

artículo científico publicado el 1 de junio de 2011

A century later Farabee has his mutation

artículo científico publicado en 2005

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

artículo científico publicado en 2018

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

artículo científico publicado en 2013

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

artículo científico publicado en 2016

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

artículo científico publicado en 2002

A population-based study of multiple sclerosis in twins

scientific article published on 01 December 1986

An approach to ascertain probands with a non-traditional risk factor for carotid atherosclerosis

article

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

scientific article published on 25 November 2019

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

artículo científico publicado en 2015

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

scientific article published in Nature Communications

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

artículo científico publicado en 2009

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening

artículo científico publicado en 2019

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

artículo científico publicado en 1993

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

artículo científico publicado en 2014

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

artículo científico publicado en 2017

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

artículo científico publicado en 2014

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

artículo científico publicado en 2012

Evidence favoring genetic heterogeneity for febrile convulsions

scientific article published on 01 February 2000

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

artículo científico publicado en 2014

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

artículo científico publicado en 2014

Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

artículo científico publicado en 1992

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

artículo científico publicado en 2011

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

scientific article published on 15 August 2019

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

artículo científico publicado en 2018

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort

artículo científico publicado en 2019

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

artículo científico publicado en 2012

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

artículo científico publicado en 2014

Intellectual disability associated with a homozygous missense mutation in THOC6

artículo científico publicado en 2013

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

artículo científico publicado en 2016

Large deletions account for an increasing number of mutations in SGCE

scientific article published on 01 February 2008

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

artículo científico publicado en 2015

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

scientific article published on 01 February 1995

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

artículo científico publicado en 2014

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

artículo científico publicado en 2012

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

artículo científico publicado en 2013

Mutations in EZH2 cause Weaver syndrome

artículo científico publicado en 2011

Mutations in GDF5 presenting as semidominant brachydactyly A1.

artículo científico publicado en 2010

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

artículo científico publicado en 2013

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

artículo científico publicado en 2014

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada

scientific article published on 18 August 2015

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

artículo científico publicado en 2012

Neuropathologic features of pontocerebellar hypoplasia type 6.

artículo científico publicado en 2014

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

artículo científico publicado en 2016

Point mutation in the human dystrophin gene: identification through western blot analysis

artículo científico publicado en 1991

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

artículo científico

Refinement of the DYT15 locus in myoclonus dystonia

artículo científico publicado en 2007

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

article published in 2015

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

artículo científico publicado en 2015

Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers

artículo científico publicado en 1993

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

scientific article published on 16 June 2016

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

artículo científico publicado en 2015

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

artículo científico publicado en 2012

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

artículo científico publicado en 2016

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

artículo científico publicado en 2018

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

artículo científico publicado en 2016

The PARLance of Parkinson disease ⬇️

artículo científico publicado el 1 de julio de 2011

The defining DNA methylation signature of Floating-Harbor Syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2013

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

artículo científico publicado en 2014

Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.

artículo científico publicado en 2006

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

artículo científico publicado en 2015

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

artículo científico publicado en 2014

Lista de obras de Dennis E Bulman

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) ⬇️

A century later Farabee has his mutation

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

A population-based study of multiple sclerosis in twins

An approach to ascertain probands with a non-traditional risk factor for carotid atherosclerosis

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Evidence favoring genetic heterogeneity for febrile convulsions

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort

Guidelines for the use and interpretation of assays for monitoring autophagy

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Intellectual disability associated with a homozygous missense mutation in THOC6

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Large deletions account for an increasing number of mutations in SGCE

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Mutations in EZH2 cause Weaver syndrome

Mutations in GDF5 presenting as semidominant brachydactyly A1.

Mutations in PIK3R1 cause SHORT syndrome

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

Neuropathologic features of pontocerebellar hypoplasia type 6.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Point mutation in the human dystrophin gene: identification through western blot analysis

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Refinement of the DYT15 locus in myoclonus dystonia

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

The PARLance of Parkinson disease ⬇️

The defining DNA methylation signature of Floating-Harbor Syndrome

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

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.