Lista de obras - Sara Frías - Dominio Público Uruguay

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

artículo científico publicado en 2017

A Boolean network model of human gonadal sex determination

artículo científico publicado en 2015

A Boolean network model of the FA/BRCA pathway.

artículo científico publicado en 2012

A Strategy to Detect Chromosomal Abnormalities in Children With Acute Lymphoblastic Leukemia

artículo científico publicado en 2004

A clinical syndrome associated with dup(5p)

artículo científico publicado en 1982

Acrocentric cryptic translocation associated with nondisjunction of chromosome 21

artículo científico publicado en 2008

An assessment of immediate DNA damage to occupationally exposed workers to low dose ionizing radiation by using the comet assay

artículo científico publicado en 2010

Analysis of gene rearrangements using a fluorescence in situ hybridization method in Mexican patients with acute lymphoblastic leukemia: experience at a single institution

artículo científico publicado en 2008

Atorvastatin and Fenofibrate Increase the Content of Unsaturated Acyl Chains in HDL and Modify In Vivo Kinetics of HDL-Cholesteryl Esters in New Zealand White Rabbits.

artículo científico publicado en 2019

Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome.

artículo científico publicado en 1997

Cytogenetics in acute lymphoblastic leukemia in Mexican children: an institutional experience

artículo científico publicado en 2001

DEB test for Fanconi anemia detection in patients with atypical phenotypes

artículo científico publicado en 2004

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.

artículo científico publicado en 2017

Delayed repair of DNA damage by ionizing radiation in cells from patients with juvenile systemic lupus erythematosus and rheumatoid arthritis.

artículo científico publicado en 1997

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

artículo científico publicado en 2018

Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution

artículo científico publicado en 2005

Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring

artículo científico publicado en 2002

Detection of short-term chromosomal damage due to therapeutic 131I exposure in patients with thyroid cancer.

artículo científico publicado en 2010

Differential expression of TP53 associated genes in Fanconi anemia cells after mitomycin C and hydroxyurea treatment.

artículo científico publicado en 2008

Effect of hydroxyurea and normal plasma on DNA synthesis in lymphocytes from Fanconi anemia patients

scientific article published on 01 October 1996

Effect of mitomycin C and bromodeoxyuridine on Fanconi anemia lymphocytes

scientific article published on 01 January 1991

External ear microRNA expression profiles during mouse development.

artículo científico publicado en 2015

FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.

artículo científico publicado en 2019

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

artículo científico publicado en 2022

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process

artículo científico publicado en 2015

Genetic abnormalities in leukemia secondary to treatment in patients with Hodgkin's disease.

scientific article published on January 2011

Genetic heterogenicity study in Fanconi's anemia by the addition of plasma

artículo científico publicado en 1986

Heterogeneity and Clonal Evolution of Acquired PARP Inhibitor Resistance in <i>TP53-</i> and <i>BRCA1</i>-Deficient Cells

artículo científico

Heterogeneous Diagnoses Underlying Radial Ray Anomalies.

artículo científico publicado en 2016

Hydroxyurea induces chromosomal damage in G2 and enhances the clastogenic effect of mitomycin C in Fanconi anemia cells

artículo científico publicado en 2015

Identification of chromosome anomalies by G banding in patients with apparently normal karyotype (author's transl)

artículo científico publicado el 1 de abril de 1978

In Reference to Fanconi Anemia and Laron Syndrome

artículo científico publicado en 2018

Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.

artículo científico publicado en 2013

Interstitial deletion of long arm of chromosome 13.

artículo científico publicado en 1984

Local and circulating microchimerism is associated with hypersensitivity pneumonitis.

artículo científico publicado en 2007

Meiotic susceptibility for induction of sperm with chromosomal aberrations in patients receiving combination chemotherapy for Hodgkin lymphoma

artículo científico publicado en 2020

Microarray analysis of microRNA expression in mouse fetus at 13.5 and 14.5 days post-coitum in ear and back skin tissues.

scientific article published on 24 June 2016

Mitomycin C effect on Robertsonian translocations

artículo científico publicado en 1988

Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.

artículo científico publicado en 2008

NFE2L2 Gene Variants and Arsenic Susceptibility: A Lymphoblastoid Model.

artículo científico publicado en 2015

NOVP chemotherapy for Hodgkin's disease transiently induces sperm aneuploidies associated with the major clinical aneuploidy syndromes involving chromosomes X, Y, 18, and 21.

artículo científico publicado en 2003

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

scientific article published on 07 September 2020

Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma

article

Partial trisomy 16q resulting from maternal translocation 11p/16q

scientific article published on 01 January 1984

Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)

artículo científico publicado en 1978

Persistent genomic instability in peripheral blood lymphocytes from Hodgkin lymphoma survivors.

artículo científico publicado en 2012

Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples

artículo científico publicado en 2019

RAD50 targeting impairs DNA damage response and sensitizes human breast cancer cells to cisplatin therapy

artículo científico publicado en 2014

The clastogenic response of the 1q12 heterochromatic region to DNA cross-linking agents is independent of the Fanconi anaemia pathway

artículo científico publicado en 2002

Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype.

artículo científico publicado en 2005

[C band polymorphisms of chromosomes 1, 9 and 16 in families with children with Down's syndrome (author's transl)]

artículo científico publicado en 1982

[Cytogenetics in pediatric practice. Experience of 10 years (author's transl)]

artículo científico publicado en 1981

[Detection of aneuploidies using in situ hybridization in cells of the oral mucosa]

artículo científico publicado en 1996

[Effects of the addition of conditioned media on the response of Fanconi anemia lymphocytes to mitomycin C]

artículo científico publicado en 1992

[Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes]

artículo científico publicado en 1996

[Use of a test exposing lymphocytes to mitomycin C in the diagnosis of Fanconi's anemia]

artículo científico publicado en 1984

Lista de obras de Sara Frías

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

A Boolean network model of human gonadal sex determination

A Boolean network model of the FA/BRCA pathway.

A Strategy to Detect Chromosomal Abnormalities in Children With Acute Lymphoblastic Leukemia

A clinical syndrome associated with dup(5p)

Acrocentric cryptic translocation associated with nondisjunction of chromosome 21

An assessment of immediate DNA damage to occupationally exposed workers to low dose ionizing radiation by using the comet assay

Analysis of gene rearrangements using a fluorescence in situ hybridization method in Mexican patients with acute lymphoblastic leukemia: experience at a single institution

Atorvastatin and Fenofibrate Increase the Content of Unsaturated Acyl Chains in HDL and Modify In Vivo Kinetics of HDL-Cholesteryl Esters in New Zealand White Rabbits.

Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome.

Cytogenetics in acute lymphoblastic leukemia in Mexican children: an institutional experience

DEB test for Fanconi anemia detection in patients with atypical phenotypes

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.

Delayed repair of DNA damage by ionizing radiation in cells from patients with juvenile systemic lupus erythematosus and rheumatoid arthritis.

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution

Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring

Detection of short-term chromosomal damage due to therapeutic 131I exposure in patients with thyroid cancer.

Differential expression of TP53 associated genes in Fanconi anemia cells after mitomycin C and hydroxyurea treatment.

Effect of hydroxyurea and normal plasma on DNA synthesis in lymphocytes from Fanconi anemia patients

Effect of mitomycin C and bromodeoxyuridine on Fanconi anemia lymphocytes

External ear microRNA expression profiles during mouse development.

FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process

Genetic abnormalities in leukemia secondary to treatment in patients with Hodgkin's disease.

Genetic heterogenicity study in Fanconi's anemia by the addition of plasma

Heterogeneity and Clonal Evolution of Acquired PARP Inhibitor Resistance in <i>TP53-</i> and <i>BRCA1</i>-Deficient Cells

Heterogeneous Diagnoses Underlying Radial Ray Anomalies.

Hydroxyurea induces chromosomal damage in G2 and enhances the clastogenic effect of mitomycin C in Fanconi anemia cells

Identification of chromosome anomalies by G banding in patients with apparently normal karyotype (author's transl)

In Reference to Fanconi Anemia and Laron Syndrome

Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.

Interstitial deletion of long arm of chromosome 13.

Local and circulating microchimerism is associated with hypersensitivity pneumonitis.

Meiotic susceptibility for induction of sperm with chromosomal aberrations in patients receiving combination chemotherapy for Hodgkin lymphoma

Microarray analysis of microRNA expression in mouse fetus at 13.5 and 14.5 days post-coitum in ear and back skin tissues.

Mitomycin C effect on Robertsonian translocations

Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.

NFE2L2 Gene Variants and Arsenic Susceptibility: A Lymphoblastoid Model.

NOVP chemotherapy for Hodgkin's disease transiently induces sperm aneuploidies associated with the major clinical aneuploidy syndromes involving chromosomes X, Y, 18, and 21.

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma

Partial trisomy 16q resulting from maternal translocation 11p/16q

Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)

Persistent genomic instability in peripheral blood lymphocytes from Hodgkin lymphoma survivors.

Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples

RAD50 targeting impairs DNA damage response and sensitizes human breast cancer cells to cisplatin therapy

The clastogenic response of the 1q12 heterochromatic region to DNA cross-linking agents is independent of the Fanconi anaemia pathway

Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype.

[C band polymorphisms of chromosomes 1, 9 and 16 in families with children with Down's syndrome (author's transl)]

[Cytogenetics in pediatric practice. Experience of 10 years (author's transl)]

[Detection of aneuploidies using in situ hybridization in cells of the oral mucosa]

[Effects of the addition of conditioned media on the response of Fanconi anemia lymphocytes to mitomycin C]

[Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes]

[Use of a test exposing lymphocytes to mitomycin C in the diagnosis of Fanconi's anemia]