Lista de obras - Thomas Deufel - Dominio Público Uruguay

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

artículo científico publicado en 1997

A modified alignment of human and rodent 5′ untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology

article

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

scientific article published on 26 September 2007

A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

artículo científico publicado en 2009

A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

artículo científico publicado en 2008

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

artículo científico publicado en 1995

A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both components

artículo científico publicado en 2007

A polymorphic Alu insertion that mediates distinct disease-associated deletions

artículo científico publicado en 2016

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

artículo científico publicado en 2013

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

artículo científico publicado en 2014

Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.

artículo científico publicado en 2003

Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy

scientific article published on 01 April 1984

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

scientific article published on 27 July 2007

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

artículo científico publicado en 2008

Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection

scientific article published on 01 October 1995

Application of the EMIT 2000 Tacrolimus assay on the Abbott Architect c8000 high volume clinical chemistry analyzer

artículo científico publicado en 2006

Approaching clinical proteomics: current state and future fields of application in cellular proteomics

artículo científico publicado en 2009

Approaching clinical proteomics: current state and future fields of application in fluid proteomics

artículo científico publicado en 2009

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

scientific article published on 01 December 1994

Biochemistry and molecular genetics of muscle diseases.

artículo científico publicado en 1991

Brain specific proteins: creatine kinase BB isoenzyme is cochromatographed during preparation of neuron-specific enolase from human brain.

artículo científico publicado en 1983

CD62L on neutrophil granulocytes, a useful, complementary marker for the prediction of ventriculitis in blood-containing CSF

artículo científico publicado en 2010

Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

scientific article published on 01 March 1995

Carnitine metabolism in isolated rat kidney cortex tubules

artículo científico publicado en 1986

Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations

artículo científico publicado el 1 de enero de 1992

Ciprofibrate--racemate and enantiomers: effects of a four-week treatment on male inbred Fischer rats. A biochemical and morphological study

scientific article published on 01 September 1998

Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

artículo científico publicado en 2014

Correction of ventricular cerebrospinal fluid (CSF) samples for blood content does not increase sensitivity and specificity for the detection of CSF infection

artículo científico publicado en 2008

Determination of L-carnitine in biological fluids and tissues

artículo científico publicado en 1990

Determination of total homocysteine in human plasma by isocratic high-performance liquid chromatography

artículo científico publicado en 1997

Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry

artículo científico publicado en 1984

Direct analysis of clinical relevant single bacterial cells from cerebrospinal fluid during bacterial meningitis by means of micro-Raman spectroscopy

artículo científico publicado en 2009

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

artículo científico publicado en 1995

Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats.

artículo científico publicado en 2005

Evaluation of the XE-5000 for the automated analysis of blood cells in cerebrospinal fluid.

artículo científico publicado en 2009

Evaluation of two different albumin depletion strategies for improved analysis of human CSF by SELDI-TOF-MS.

artículo científico publicado en 2009

External Quality Assessment of Molecular Biology-Based Methods Used in Laboratories of Clinical Chemistry and Human Genetics

article

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

scientific article published on 01 January 1991

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

artículo científico publicado en 1983

Features, symptoms, and neurophysiological findings in stroke associated with hyperhomocysteinemia

artículo científico publicado en 1997

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

artículo científico publicado en 2014

Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle

artículo científico publicado en 2002

Glutamate receptor δ 1 (GRID1) genetic variation and brain structure in schizophrenia

artículo científico publicado en 2012

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

artículo científico publicado en 2001

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

scientific article published on 11 October 2006

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

article

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system

artículo científico publicado en 2004

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

artículo científico publicado en 2007

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

Locus-specific detection of HLA-DQ and -DR antigens by antibodies against synthetic N-terminal octapeptides of the beta chain.

artículo científico publicado en 1985

Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.

artículo científico publicado en 2005

Malignant hyperthermia is genetically heterogenetic. Problems in search for molecular genetic markers

artículo científico publicado el 20 de enero de 1992

Mass spectometry-based protein patterns in the diagnosis of sepsis/systemic inflammatory response syndrome

artículo científico publicado en 2011

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

article

Metabolic myopathies

artículo científico publicado en 1987

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

artículo científico publicado en 2008

Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss

artículo científico publicado en 1996

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

artículo científico publicado en 2012

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

artículo científico publicado en 1993

Mutation analysis in the diagnosis of cystic fibrosis

artículo científico publicado en 1993

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

artículo científico publicado en 2002

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

scientific article published on 01 January 1997

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I ⬇️

artículo científico publicado el 1 de julio de 1997

No influence of 5-HTTLPR gene polymorphism on migraine symptomatology, comorbid depression, and chronification

artículo científico publicado en 2009

Non-enzymatic glycosylation of human serum lipoproteins. Elevated epsilon-lysine glycosylated low density lipoprotein in diabetic patients

scientific article published on 01 June 1981

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.

artículo científico publicado en 2006

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

artículo científico publicado en 2003

Predictive value of S-100beta and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgery

scientific article published on 01 January 2000

Putting science to work: novel diagnostic strategies in laboratory medicine

artículo científico publicado en 2006

Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

scientific article published on 01 February 1997

Quantitation of serum free light chains does not compensate for serum immunofixation only when screening for monoclonal gammopathies

artículo científico publicado en 2009

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

artículo científico publicado en 2008

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas.

artículo científico publicado en 2004

Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia

artículo científico publicado en 2011

Resistance to activated protein C (APCR) in children with acute lymphoblastic leukaemia--the need for a prospective multicentre study

artículo científico publicado en 1995

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

artículo científico publicado en 2008

Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination

artículo científico publicado en 1983

Single and chronic administration of ciprofibrate or of ciprofibrate-glycinate in male Fischer 344 rats: comparison of the effects on morphological and biochemical parameters in liver and blood.

artículo científico publicado en 2005

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

artículo científico publicado en 2000

Strong interference of hemoglobin concentration on CSF total protein measurement using the trichloroacetic acid precipitation method.

artículo científico publicado en 2007

Study protocol of the VISEP study. Response of the SepNet study group

artículo científico publicado en 2008

Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I

scientific article published on 01 December 1995

Synthesis and biological evaluation of NO-donor-tacrine hybrids as hepatoprotective anti-Alzheimer drug candidates.

artículo científico publicado en 2008

The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9

artículo científico publicado en 1993

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

article

Uncontrolled clinical study of the efficacy of ambulant fasting in patients with osteoarthritis

artículo científico publicado en 2010

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).

artículo científico publicado en 2006

Use of SELDI-TOF mass spectrometry for identification of new biomarkers: potential and limitations

artículo científico publicado en 2007

Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization

artículo científico publicado en 1996

ZNF804A and cortical structure in schizophrenia: in vivo and postmortem studies

artículo científico publicado en 2013

[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)]

artículo científico publicado en 1979

[Diagnostic significance of muscle biopsies in metabolic myopathies. I. Myopathology]

scientific article published on 01 July 1984

[Mechanism and genetic control of the autoimmune response directed against beta-pancreatic cells in insulin-dependent diabetes]

scientific article published on 01 January 1985

[Mitigated adult forms of acid maltase deficiency (Pompe's disease). Morphologic and pathobiochemical studies]

artículo científico publicado en 1983

Lista de obras de Thomas Deufel

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

A modified alignment of human and rodent 5′ untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both components

A polymorphic Alu insertion that mediates distinct disease-associated deletions

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.

Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection

Application of the EMIT 2000 Tacrolimus assay on the Abbott Architect c8000 high volume clinical chemistry analyzer

Approaching clinical proteomics: current state and future fields of application in cellular proteomics

Approaching clinical proteomics: current state and future fields of application in fluid proteomics

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

Biochemistry and molecular genetics of muscle diseases.

Brain specific proteins: creatine kinase BB isoenzyme is cochromatographed during preparation of neuron-specific enolase from human brain.

CD62L on neutrophil granulocytes, a useful, complementary marker for the prediction of ventriculitis in blood-containing CSF

Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

Carnitine metabolism in isolated rat kidney cortex tubules

Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations

Ciprofibrate--racemate and enantiomers: effects of a four-week treatment on male inbred Fischer rats. A biochemical and morphological study

Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

Correction of ventricular cerebrospinal fluid (CSF) samples for blood content does not increase sensitivity and specificity for the detection of CSF infection

Determination of L-carnitine in biological fluids and tissues

Determination of total homocysteine in human plasma by isocratic high-performance liquid chromatography

Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry

Direct analysis of clinical relevant single bacterial cells from cerebrospinal fluid during bacterial meningitis by means of micro-Raman spectroscopy

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats.

Evaluation of the XE-5000 for the automated analysis of blood cells in cerebrospinal fluid.

Evaluation of two different albumin depletion strategies for improved analysis of human CSF by SELDI-TOF-MS.

External Quality Assessment of Molecular Biology-Based Methods Used in Laboratories of Clinical Chemistry and Human Genetics

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

Features, symptoms, and neurophysiological findings in stroke associated with hyperhomocysteinemia

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle

Glutamate receptor δ 1 (GRID1) genetic variation and brain structure in schizophrenia

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

Locus-specific detection of HLA-DQ and -DR antigens by antibodies against synthetic N-terminal octapeptides of the beta chain.

Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.

Malignant hyperthermia is genetically heterogenetic. Problems in search for molecular genetic markers

Mass spectometry-based protein patterns in the diagnosis of sepsis/systemic inflammatory response syndrome

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Metabolic myopathies

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

Mutation analysis in the diagnosis of cystic fibrosis

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I ⬇️

No influence of 5-HTTLPR gene polymorphism on migraine symptomatology, comorbid depression, and chronification

Non-enzymatic glycosylation of human serum lipoproteins. Elevated epsilon-lysine glycosylated low density lipoprotein in diabetic patients

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Predictive value of S-100beta and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgery

Putting science to work: novel diagnostic strategies in laboratory medicine

Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

Quantitation of serum free light chains does not compensate for serum immunofixation only when screening for monoclonal gammopathies

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas.

Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia

Resistance to activated protein C (APCR) in children with acute lymphoblastic leukaemia--the need for a prospective multicentre study

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination

Single and chronic administration of ciprofibrate or of ciprofibrate-glycinate in male Fischer 344 rats: comparison of the effects on morphological and biochemical parameters in liver and blood.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia