Lista de obras - Arleen D. Auerbach - Dominio Público Uruguay

8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

artículo científico publicado en 2000

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

artículo científico publicado en 2002

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

scientific journal article

A call for mutations

article

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

artículo científico publicado en 2017

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

scientific article published on 26 September 2019

A note on competing risks in survival data analysis

artículo científico publicado en 2004

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

artículo científico publicado en 2005

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

artículo científico publicado en 2007

Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

artículo científico publicado en 1982

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

artículo científico publicado en 2006

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

artículo científico publicado en 1998

Chemotherapy for myeloid malignancy in children with Fanconi anemia

artículo científico publicado en 2007

Clarity and claims in variation/mutation databasing

artículo científico publicado en 2011

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

artículo científico publicado en 1986

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

scientific article published on 31 August 2020

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

artículo científico publicado en 2014

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

artículo científico publicado en 1998

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

DNA amplification for DQ typing as an adjunct to serological prenatal HLA typing for the identification of potential donors for umbilical cord blood transplantation

artículo científico publicado en 1991

Dermatologic birth defects and congenital skin disease

artículo científico publicado en 1984

Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi anemia registry study

artículo científico publicado en 1997

Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

artículo científico publicado en 1989

Effect of procarbazine and cyclophosphamide on chromosome breakage in Fanconi anemia cells: Relevance to bone marrow transplantation

scientific article published on 01 May 1983

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

artículo científico publicado en 2007

FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

artículo científico publicado en 2012

FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses.

artículo científico publicado en 2010

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

artículo científico publicado en 2000

Fanconi anemia and its diagnosis

artículo científico publicado en 2009

Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features

scientific article published on 01 November 1991

Fanconi anemia: Evidence for linkage heterogeneity on chromosome 20q

scientific article published on 01 February 1991

Fatal Hemorrhage from Androgen-Related Hepatic Adenoma After Hematopoietic Cell Transplantation

artículo científico publicado en 2004

Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia

artículo científico publicado en 2008

GENETICS. The Human Variome Project

artículo científico publicado en 2008

GST genotype may modify clinical phenotype in patients with Fanconi anaemia

artículo científico publicado en 2005

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

artículo científico publicado en 2007

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

scientific article published on 08 January 2004

HLA typing used with cultured amniotic and chorionic villus cells for early prenatal diagnosis or parentage testing without one parent's availability

scientific article published on 01 June 1986

Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial

artículo científico publicado en 2000

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

artículo científico publicado en 2010

Human Variome Project country nodes: documenting genetic information within a country

artículo científico publicado en 2012

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 and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

artículo científico publicado en 2009

Identification of Cytosolic Proteins That Bind to the Fanconi Anemia Complementation Group C Polypeptidein Vitro

scientific article published in Journal of Biological Chemistry

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

artículo científico publicado en 1998

Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis.

artículo científico publicado en 1997

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

artículo científico publicado en 2013

Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience.

artículo científico publicado en 2007

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

artículo científico publicado en 1999

Mutations of the SLX4 gene in Fanconi anemia

artículo científico publicado en 2011

New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia

scientific article published on 01 June 1998

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

artículo científico publicado en 2011

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

artículo científico publicado en 2016

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

artículo científico publicado en 2002

Planning the human variome project: the Spain report.

artículo científico publicado en 2009

Recommendations for locus-specific databases and their curation

artículo científico publicado en 2008

Recommendations of the 2006 Human Variome Project meeting

artículo científico publicado en 2007

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

artículo científico publicado en 2012

Reply to Dr. Strom regarding “A call for mutations”

article

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

artículo científico publicado en 2011

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

artículo científico publicado en 2001

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

artículo científico publicado en 2017

Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

article

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study

artículo científico publicado en 2005

Stem cell collection and gene transfer in Fanconi anemia

artículo científico publicado en 2007

Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts

artículo científico publicado en 2000

Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation

artículo científico publicado en 2006

Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor

artículo científico publicado en 2004

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

artículo científico publicado en 2005

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations

scientific article published on 05 May 2011

The genomic organization of the Fanconi anemia group A (FAA) gene

artículo científico publicado en 1997

Two hour DNA hybridizations using a new transfer membrane.

artículo científico publicado en 1989

Lista de obras de Arleen D. Auerbach

8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

A call for mutations

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

A note on competing risks in survival data analysis

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

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

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

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

Chemotherapy for myeloid malignancy in children with Fanconi anemia

Clarity and claims in variation/mutation databasing

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

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.

DNA amplification for DQ typing as an adjunct to serological prenatal HLA typing for the identification of potential donors for umbilical cord blood transplantation

Dermatologic birth defects and congenital skin disease

Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi anemia registry study

Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

Effect of procarbazine and cyclophosphamide on chromosome breakage in Fanconi anemia cells: Relevance to bone marrow transplantation

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

FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses.

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

Fanconi anemia and its diagnosis

Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features

Fanconi anemia: Evidence for linkage heterogeneity on chromosome 20q

Fatal Hemorrhage from Androgen-Related Hepatic Adenoma After Hematopoietic Cell Transplantation

Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia

GENETICS. The Human Variome Project

GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

HLA typing used with cultured amniotic and chorionic villus cells for early prenatal diagnosis or parentage testing without one parent's availability

Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Human Variome Project country nodes: documenting genetic information within a country

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

Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

Identification of Cytosolic Proteins That Bind to the Fanconi Anemia Complementation Group C Polypeptidein Vitro

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience.

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

Mutations of the SLX4 gene in Fanconi anemia

New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia

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

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

Planning the human variome project: the Spain report.

Recommendations for locus-specific databases and their curation

Recommendations of the 2006 Human Variome Project meeting

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

Reply to Dr. Strom regarding “A call for mutations”

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study

Stem cell collection and gene transfer in Fanconi anemia

Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts

Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation

Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations

The genomic organization of the Fanconi anemia group A (FAA) gene

Two hour DNA hybridizations using a new transfer membrane.