List of works - Heidemarie Neitzel

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

scientific article

A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells

scientific article

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany

scientific article

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

scientific article published on 30 November 2009

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

scientific article

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

scientific article

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

scientific article published on 13 July 2006

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature

scientific article published in August 2003

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications ⬇️

scientific article published on May 23, 2012

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

scientific article

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

scientific article published in September 2010

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

scientific article published on 2 January 2003

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

scientific article published on January 3, 2010

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

scientific article

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

scientific article published on 7 February 2018

Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident ⬇️

scientific article published on December 7, 2011

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

scientific article published in March 2003

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

Fanconi anemia (FA)-associated 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA

scientific article published on 01 June 2011

High-throughput sequencing of microdissected chromosomal regions

scientific article

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature

scientific article

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature

scientific article published in February 2009

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

scientific article published on 15 December 2010

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

scientific article

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

scientific article published in July 2004

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

scientific article

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

scientific article published on September 2011

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

scientific article

New mutations in the ATM gene and clinical data of 25 AT patients

scientific article

Pigmentary mosaicism of the hyperpigmented type in two half-brothers

scientific article published in September 2002

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

scientific article published on 20 February 2002

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

scientific article published in March 2006

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

scientific article published on 18 June 2006

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

scientific article published on 17 April 2013

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

scientific article published on 20 June 2020

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

scientific article published on November 2005

Three new cases with a supernumerary ring chromosome 1.

scientific article published in October 2005

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

scientific article

List of works by Heidemarie Neitzel

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

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

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications ⬇️

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident ⬇️

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

Fanconi anemia (FA)-associated 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA

High-throughput sequencing of microdissected chromosomal regions

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

New mutations in the ATM gene and clinical data of 25 AT patients

Pigmentary mosaicism of the hyperpigmented type in two half-brothers

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

Three new cases with a supernumerary ring chromosome 1.

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?