List of works - Manfred Stuhrmann

1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey--a plausible explanation for the influence of vitamin D on age-related macular degeneration?

scientific article published on 27 September 2013

A cystic fibrosis patient homozygous for the nonsense mutation R553X ⬇️

scientific article published on October 1, 1991

A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene

scientific article published on 01 August 1999

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

scientific article published on 19 May 2012

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients

scientific article published on 01 November 1992

Alternative splicing in the first nucleotide binding fold of CFTR

scientific article published on 01 March 1993

Analysis of microsatellite DNA using a non-radioactive method: blotting from polyacrylamide gel to nylon membrane using a gel dryer with subsequent hybridization to digoxigenin-labelled (dCdA)8 oligonucleotide probes

scientific article published on 01 April 1994

Aortic dissecting aneurysms--histopathological findings.

scientific article published on 26 July 2011

Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

scientific article published on 28 April 2011

Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma

scientific article published on 01 March 2007

Association of TNF-α polymorphism rs1800629 with multisomatoform disorder in a group of German patients and healthy controls: an explorative study

scientific article published on 05 January 2013

Augmentation index and the evolution of aortic disease in marfan-like syndromes.

scientific article

BRCA1 expression is not affected by the intronic 12 bp duplication.

scientific article published in March 1999

Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy.

scientific article published on 05 June 2015

CFTR gene mutations and male infertility.

scientific article

CFTR gene mutations in sarcoidosis

scientific article published on 01 November 2002

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X ⬇️

scientific article published on October 1, 1993

CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients

scientific article published on 01 October 2014

Catechol-O-methyltransferase gene polymorphisms are not associated with multisomatoform disorder in a group of German multisomatoform disorder patients and healthy controls.

scientific article published in June 2010

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

scientific article published in February 1991

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

scientific article

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

scientific article

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

scientific article

Diagnosis of hereditary hemochromatosis in the era of genetic testing

scientific article published on 07 June 2012

Digenic mutations in severe congenital neutropenia

scientific article

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

article

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

scientific article published on 01 May 2006

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

scientific article

Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family

scientific article published on 01 March 2001

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

scientific article published on 19 November 2008

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

scientific article published in September 2003

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

scientific article

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients

scientific article published on 01 September 1990

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

scientific article published in September 1990

Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families

scientific article published on 01 January 1991

Genetic influences in the formation of nasal polyps

scientific article published in The Lancet

Genetic knowledge among participants of a German pilot study on hemochromatosis screening

scientific article published on 01 July 2006

Genetic predisposition for a compromised immune system after multiple trauma

scientific article published on 01 December 2005

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

scientific article published in March 1990

Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study

scientific article published on 01 January 2005

Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study

scientific article published on 01 January 2005

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

scientific article published on 01 August 1989

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

scientific article published on 25 October 2005

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

scientific article published on 6 November 2012

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

scientific article published on 01 June 2005

Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?

scientific article published on 25 January 2012

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient

scientific article published on 01 October 2000

Identification and clinical presentation of beta thalassaemia mutations in the eastern region of Saudi Arabia.

scientific article published on December 1999

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

scientific article

Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.

scientific article

Interaction of the dopaminergic and serotonergic systems significantly influences the risk for multisomatoform disorder: a controlled pilot study.

scientific article

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

scientific article published on 30 September 2009

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

scientific article published on 01 November 2004

Missense variation of the CFTR gene codon 507

scientific article published on 01 January 1992

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online

scientific article published on 01 January 1999

Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

scientific article published in February 2001

Mutation at the SCA17 locus is not a common cause of primary dystonia

scientific article published on 01 October 2004

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

scientific article

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

scientific article published on 01 August 2000

Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.

scientific article published in October 2004

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis

scientific article published on 07 May 2010

No association of CNR1 gene variations with susceptibility to schizophrenia.

scientific article published on 10 August 2007

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

scientific article published on 30 July 2010

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

scientific article published in December 1997

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

scientific article published on 01 January 2006

PCR-based mutation analysis in cystic fibrosis

scientific article published on 01 June 1992

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

scientific article published in January 1995

Phenylketonuria mutation in southern Europeans

scientific article published on 01 April 1991

Polymorphisms of the human beta-defensin-1 gene.

scientific article

Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice

scientific article published on 15 August 2007

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

scientific article

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

article

Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome

scientific article published on 01 July 2007

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

scientific article published on 2 December 2011

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

scientific article published on 01 October 2001

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.

scientific article published on 3 December 2008

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D

scientific article published on 01 November 2001

The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy

scientific article published on 01 March 1991

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

scientific article published on 01 January 1995

Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland

article

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

scientific article

Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients.

scientific article published on 14 August 2014

[123I]AM281 single-photon emission computed tomography imaging of central cannabinoid CB1 receptors before and after Delta9-tetrahydrocannabinol therapy and whole-body scanning for assessment of radiation dose in tourette patients.

scientific article published in May 2004

[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology]

scientific article published on 01 June 2003

[Mucoviscidosis. Also a disease in adulthood?]

scientific article published on 01 May 1999

[The importance of the endogenous cannabinoid system in various neuropsychiatric disorders]

scientific article published on 01 October 2000

List of works by Manfred Stuhrmann

1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey--a plausible explanation for the influence of vitamin D on age-related macular degeneration?

A cystic fibrosis patient homozygous for the nonsense mutation R553X ⬇️

A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients

Alternative splicing in the first nucleotide binding fold of CFTR

Analysis of microsatellite DNA using a non-radioactive method: blotting from polyacrylamide gel to nylon membrane using a gel dryer with subsequent hybridization to digoxigenin-labelled (dCdA)8 oligonucleotide probes

Aortic dissecting aneurysms--histopathological findings.

Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma

Association of TNF-α polymorphism rs1800629 with multisomatoform disorder in a group of German patients and healthy controls: an explorative study

Augmentation index and the evolution of aortic disease in marfan-like syndromes.

BRCA1 expression is not affected by the intronic 12 bp duplication.

Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy.

CFTR gene mutations and male infertility.

CFTR gene mutations in sarcoidosis

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X ⬇️

CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients

Catechol-O-methyltransferase gene polymorphisms are not associated with multisomatoform disorder in a group of German multisomatoform disorder patients and healthy controls.

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Diagnosis of hereditary hemochromatosis in the era of genetic testing

Digenic mutations in severe congenital neutropenia

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families

Genetic influences in the formation of nasal polyps

Genetic knowledge among participants of a German pilot study on hemochromatosis screening

Genetic predisposition for a compromised immune system after multiple trauma

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study

Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient

Identification and clinical presentation of beta thalassaemia mutations in the eastern region of Saudi Arabia.

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.

Interaction of the dopaminergic and serotonergic systems significantly influences the risk for multisomatoform disorder: a controlled pilot study.

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

Missense variation of the CFTR gene codon 507

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online

Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

Mutation at the SCA17 locus is not a common cause of primary dystonia

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis

No association of CNR1 gene variations with susceptibility to schizophrenia.

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

PCR-based mutation analysis in cystic fibrosis

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

Phenylketonuria mutation in southern Europeans

Polymorphisms of the human beta-defensin-1 gene.

Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D

The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients