Lista de obras - Konrad Oexle - Dominio Público Uruguay

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

artículo científico publicado en 2011

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

scientific article published on 01 July 1996

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

artículo científico publicado en 2013

A remark on rare variants

artículo científico publicado en 2010

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

artículo científico publicado en 1998

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

artículo científico publicado en 2013

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

Advanced Telomere Shortening in Respiratory Chain Disorders

artículo científico publicado en 1997

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2

Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement

artículo científico publicado en 2017

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

artículo científico publicado en 2006

Biomarkers of iron metabolism are independently associated with impaired glucose metabolism and type 2 diabetes: the KORA F4 study

artículo científico publicado en 2015

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency

artículo científico publicado en 2006

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

artículo científico publicado en 2016

Childhood overgrowth in patients with common NF1 microdeletions

artículo científico publicado en 2005

Clinical sequencing: is WGS the better WES?

artículo científico publicado en 2016

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Congenital myopathy with excess of thin myofilaments

scientific article published on 01 May 1997

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2015

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

artículo científico publicado en 2012

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

artículo científico publicado en 2014

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

artículo científico publicado en 2014

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

artículo científico publicado en 2008

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype

artículo científico publicado en 2011

Dilution of candidates: the case of iron-related genes in restless legs syndrome

artículo científico publicado en 2012

Duck hepatitis B virus: cloning and subcloning of the viral genome

artículo científico publicado en 1989

Dystrophin under scrutiny

artículo científico publicado en 1989

Evaluation of the evenness score in next-generation sequencing

artículo científico publicado en 2016

Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy.

artículo científico publicado en 1997

Familial pineocytoma

artículo científico publicado en 2012

Folate status and health: challenges and opportunities

artículo científico

Genetik der Demenzen

artículo científico publicado en 2015

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.

artículo científico publicado en 2017

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

artículo científico publicado en 2014

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

artículo científico publicado en 2013

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

artículo científico publicado en 2014

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

scientific article published on 01 September 2005

Identification of Restless Legs Syndrome Genes by Mutational Load Analysis

artículo científico publicado en 2019

Intracranial chordoma in a neonate.

artículo científico publicado en 1992

Iron and restless legs syndrome: treatment, genetics and pathophysiology

artículo científico publicado en 2016

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

artículo científico publicado en 1996

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

artículo científico publicado en 2001

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

artículo científico publicado en 2012

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

artículo científico publicado en 2003

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

artículo científico publicado en 2011

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion

artículo científico publicado en 2004

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

artículo científico publicado en 2013

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

artículo científico publicado en 1999

Myoclonus-dystonia in 18p deletion syndrome

artículo científico publicado en 2010

Neurosensory hearing loss in secondary adhalinopathy.

artículo científico publicado en 1996

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

artículo científico publicado en 2013

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

artículo científico publicado en 2013

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

artículo científico publicado en 2011

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

artículo científico publicado en 2010

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2014

On dystrophin abundance and C-terminal missense mutations in dystrophinopathies

artículo científico publicado en 1999

Ophthalmic epidemiology in Europe: the "European Eye Epidemiology" (E3) consortium

artículo científico publicado en 2015

PMP22 Thr118Met is not a clinically relevant CMT1 marker

scientific article published on 01 September 2000

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

artículo científico publicado en 2012

Prednisone therapy for Duchenne's muscular dystrophy

artículo científico publicado en 1989

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome

artículo científico publicado en 2012

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

artículo científico publicado en 2014

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency

artículo científico publicado en 2002

Sampling GWAS subjects from risk populations

artículo científico publicado en 2011

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

article by Karl Hackmann et al published December 2013 in American Journal of Medical Genetics

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis

artículo científico publicado en 2005

Steroids in Duchenne muscular dystrophy

artículo científico publicado en 1994

Telomere Length Distribution and Southern Blot Analysis ⬇️

artículo científico publicado el 21 de febrero de 1998

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

artículo científico publicado en 2015

Three-generational alkaptonuria in a non-consanguineous family

artículo científico publicado en 2008

Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem

artículo científico publicado en 2006

Wheat kernel ingestion protects from progression of muscle weakness in mdx mice, an animal model of Duchenne muscular dystrophy.

artículo científico publicado en 1996

Lista de obras de Konrad Oexle

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

A remark on rare variants

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Advanced Telomere Shortening in Respiratory Chain Disorders

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2

Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

Biomarkers of iron metabolism are independently associated with impaired glucose metabolism and type 2 diabetes: the KORA F4 study

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Childhood overgrowth in patients with common NF1 microdeletions

Clinical sequencing: is WGS the better WES?

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

Congenital myopathy with excess of thin myofilaments

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype

Dilution of candidates: the case of iron-related genes in restless legs syndrome

Duck hepatitis B virus: cloning and subcloning of the viral genome

Dystrophin under scrutiny

Evaluation of the evenness score in next-generation sequencing

Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy.

Familial pineocytoma

Folate status and health: challenges and opportunities

Genetik der Demenzen

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

Identification of Restless Legs Syndrome Genes by Mutational Load Analysis

Intracranial chordoma in a neonate.

Iron and restless legs syndrome: treatment, genetics and pathophysiology

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

Myoclonus-dystonia in 18p deletion syndrome

Neurosensory hearing loss in secondary adhalinopathy.

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

On dystrophin abundance and C-terminal missense mutations in dystrophinopathies

Ophthalmic epidemiology in Europe: the "European Eye Epidemiology" (E3) consortium

PMP22 Thr118Met is not a clinically relevant CMT1 marker

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

Prednisone therapy for Duchenne's muscular dystrophy

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency

Sampling GWAS subjects from risk populations

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis

Steroids in Duchenne muscular dystrophy

Telomere Length Distribution and Southern Blot Analysis ⬇️

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Three-generational alkaptonuria in a non-consanguineous family

Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem

Wheat kernel ingestion protects from progression of muscle weakness in mdx mice, an animal model of Duchenne muscular dystrophy.