List of works - Maria Hoeltzenbein

Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity

scientific article

BIGH3 mutation spectrum in corneal dystrophies

scientific article published on 01 April 2002

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

scientific article

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

scientific article published in February 2007

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

scientific article published in November 2002

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? ⬇️

scientific article published on September 1, 1998

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

scientific article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

scholarly article published in European Journal of Human Genetics

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

article published in 2004

Fehlende Gyrierung des Gehirns bei einem SGA-Neugeborenen

Fine mapping of the Schnyder's crystalline corneal dystrophy locus

scientific article published on 19 March 2004

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families

scientific article published on 01 April 2000

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

scientific article

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

scientific article (publication date: October 2000)

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

Hypergonadotropic hypogonadism in a patient with inv ins (2;4).

scientific article published on 27 November 2007

Increased rate of birth defects after first trimester use of angiotensin converting enzyme inhibitors - Treatment or hypertension related? An observational cohort study

scientific article published on 19 May 2018

Komplexes Fehlbildungssyndrom

Lhermitte-Duclos Disease in 3 Children: A Clinical Long-Term Observation ⬇️

scientific article published on February 1, 2003

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

article published in 2005

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

scientific article published in March 2006

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

scientific article

Mutation analysis of a putative sialyltransferase gene, theSFRS2splicing factor gene and thec-mybET-locus in two families with hereditary neuralgic amyotrophy (HNA)

article

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

scientific article published in May 2006

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

scientific article

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

scientific article published on 18 November 2003

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

scientific article (publication date: December 2003)

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

scientific article published on 27 August 2009

New Alström syndrome phenotypes based on the evaluation of 182 cases

scientific article published in March 2005

No evidence for an increased risk of adverse pregnancy outcome after paternal low-dose methotrexate: an observational cohort study.

scientific article published on 24 December 2013

Nonsyndromic X-linked mental retardation: where are the missing mutations?

scientific article

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

article

Oppenheim's myatonia congenita

scientific article

Pregnancy Outcome After First Trimester Use of Methyldopa: A Prospective Cohort Study

scientific article published on 22 May 2017

Pregnancy outcome after exposure to the novel oral anticoagulant rivaroxaban in women at suspected risk for thromboembolic events: a case series from the German Embryotox Pharmacovigilance Centre

scientific article published on 21 July 2015

Pregnancy outcome after first trimester exposure to bisoprolol: an observational cohort study

scientific article published on 01 October 2018

Pregnancy outcome after first trimester use of angiotensin AT1 receptor blockers: an observational cohort study.

scientific article published on 24 March 2018

Pregnancy outcome after paternal exposure to azathioprine/6-mercaptopurine

article

Schnydersche kristalline Hornhautdystrophie

article

Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy

scientific article published on 01 May 1999

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

scientific article published in February 2003

Suicide attempt during late pregnancy with quetiapine: nonfatal outcome despite severe intoxication

scientific article published in June 2015

Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services

scientific article published on 8 February 2012

The EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactation

scientific article

Tocilizumab use in pregnancy: Analysis of a global safety database including data from clinical trials and post-marketing data

scientific article

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

scientific article published on 10 April 2008

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy

scientific article (publication date: 21 May 2010)

List of works by Maria Hoeltzenbein

Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity

BIGH3 mutation spectrum in corneal dystrophies

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? ⬇️

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

Fehlende Gyrierung des Gehirns bei einem SGA-Neugeborenen

Fine mapping of the Schnyder's crystalline corneal dystrophy locus

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

Hypergonadotropic hypogonadism in a patient with inv ins (2;4).

Increased rate of birth defects after first trimester use of angiotensin converting enzyme inhibitors - Treatment or hypertension related? An observational cohort study

Komplexes Fehlbildungssyndrom

Lhermitte-Duclos Disease in 3 Children: A Clinical Long-Term Observation ⬇️

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Mutation analysis of a putative sialyltransferase gene, theSFRS2splicing factor gene and thec-mybET-locus in two families with hereditary neuralgic amyotrophy (HNA)

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

New Alström syndrome phenotypes based on the evaluation of 182 cases

No evidence for an increased risk of adverse pregnancy outcome after paternal low-dose methotrexate: an observational cohort study.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

Oppenheim's myatonia congenita

Pregnancy Outcome After First Trimester Use of Methyldopa: A Prospective Cohort Study

Pregnancy outcome after exposure to the novel oral anticoagulant rivaroxaban in women at suspected risk for thromboembolic events: a case series from the German Embryotox Pharmacovigilance Centre

Pregnancy outcome after first trimester exposure to bisoprolol: an observational cohort study

Pregnancy outcome after first trimester use of angiotensin AT1 receptor blockers: an observational cohort study.

Pregnancy outcome after paternal exposure to azathioprine/6-mercaptopurine

Schnydersche kristalline Hornhautdystrophie

Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Suicide attempt during late pregnancy with quetiapine: nonfatal outcome despite severe intoxication

Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services

The EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactation

Tocilizumab use in pregnancy: Analysis of a global safety database including data from clinical trials and post-marketing data

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy