Lista de obras -

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network ⬇️

artículo científico publicado el 14 de junio de 2012

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma

artículo científico publicado en 2006

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

artículo científico publicado en 2004

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

artículo científico publicado en 2006

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability

artículo científico publicado en 2010

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

artículo científico publicado en 2012

A novel approach to describe a U1 snRNA binding site.

artículo científico publicado en 2003

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

artículo científico publicado en 2005

A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint

artículo científico publicado en 2004

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control

artículo científico publicado en 2011

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia

artículo científico publicado en 2002

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

artículo científico publicado en 2006

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

artículo científico publicado en 2017

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

artículo científico publicado en 2010

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

artículo científico publicado en 2018

Decreased platelet reactivity identified by whole blood flow cytometry in Fanconi anaemia patients.

artículo científico publicado en 2007

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

artículo científico publicado en 2015

Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm

artículo científico publicado en 2006

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

artículo científico publicado en 2017

Disease and mutation: correlations coming to fruition

scientific article published on 01 April 2020

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

artículo científico publicado en 2010

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing

artículo científico publicado en 2006

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

artículo científico publicado en 2007

Fanconi anaemia - response to Manoharan

artículo científico publicado en 2006

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

artículo científico publicado en 2003

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

artículo científico publicado en 2007

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

artículo científico publicado en 2010

Genotype-phenotype correlations in Fanconi anemia

artículo científico publicado en 2009

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

scientific article published on 28 February 2019

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges

artículo científico publicado en 2012

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

artículo científico publicado en 2010

Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia ⬇️

artículo científico publicado el 12 de enero de 2011

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

scientific journal article

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

scientific article published on 30 April 2009

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

artículo científico publicado en 2007

Identification of the Fanconi anemia complementation group I gene, FANCI.

artículo científico publicado en 2007

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

artículo científico publicado en 2015

Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation

artículo científico publicado en 2004

Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report

artículo científico publicado en 2013

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

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

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer

artículo científico publicado en 2014

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

artículo científico publicado en 2011

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

artículo científico publicado en 2010

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms

artículo científico publicado en 2017

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

artículo científico publicado en 2013

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

Neoplasia, ageing, and genetic instability due to defective caretaker genes.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

On the role of FAN1 in Fanconi anemia

artículo científico publicado en 2012

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

artículo científico publicado en 2011

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

artículo científico publicado en 2010

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

artículo científico publicado en 2014

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

article

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

artículo científico publicado en 2002

Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study

artículo científico publicado en 2006

Protective role of RAD50 on chromatin bridges during abnormal cytokinesis

artículo científico publicado en 2013

RAD50 regulates mitotic progression independent of DNA repair functions

scientific article published on 31 December 2019

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

artículo científico publicado en 2017

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

scientific article published on 01 April 2020

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

article

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

artículo científico publicado en 2002

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)

artículo científico publicado en 2020

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

artículo científico publicado en 2007

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

artículo científico publicado en 2005

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

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

artículo científico publicado en 2012

Treatment of the bone marrow failure in Fanconi anemia patients with danazol ⬇️

artículo científico publicado el 16 de diciembre de 2011

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

artículo científico publicado en 2016

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

artículo científico publicado en 2012

Lista de obras de

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network ⬇️

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability

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

A novel approach to describe a U1 snRNA binding site.

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

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

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia

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

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

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

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Decreased platelet reactivity identified by whole blood flow cytometry in Fanconi anaemia patients.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

Disease and mutation: correlations coming to fruition

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

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing

Exploring the link between MORF4L1 and risk of breast cancer

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Fanconi anaemia - response to Manoharan

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

Genotype-phenotype correlations in Fanconi anemia

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia ⬇️

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

Identification of the Fanconi anemia complementation group I gene, FANCI.

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation

Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report

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.

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

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Neoplasia, ageing, and genetic instability due to defective caretaker genes.

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

On the role of FAN1 in Fanconi anemia

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

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

Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study

Protective role of RAD50 on chromatin bridges during abnormal cytokinesis

RAD50 regulates mitotic progression independent of DNA repair functions

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

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

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

Treatment of the bone marrow failure in Fanconi anemia patients with danazol ⬇️

Two truncating variants in FANCC and breast cancer risk

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.