Lista de obras -

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado el 23 de mayo de 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado el 3 de enero de 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado el 7 de diciembre de 2011

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

artículo científico publicado en 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

artículo científico publicado en 2011

High-throughput sequencing of microdissected chromosomal regions

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Pigmentary mosaicism of the hyperpigmented type in two half-brothers

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2005

Three new cases with a supernumerary ring chromosome 1.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Lista de obras de

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?