Lista de obras - Marga Nadal - Dominio Público Uruguay

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

artículo científico publicado en 2001

A patient with autistic disorder and a 20/22 chromosomal translocation.

artículo científico publicado en 1998

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

artículo científico publicado en 2001

Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer.

artículo científico publicado en 2008

Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: a possible sign of aging rather than an indicator of carcinogenesis?

artículo científico publicado en 2007

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

artículo científico publicado en 1995

CD84 leukocyte antigen is a new member of the Ig superfamily

artículo científico publicado en 1997

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication

artículo científico publicado en 2001

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.

artículo científico publicado en 1999

Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene

artículo científico publicado en 1999

Comparative genomic hybridization analysis reveals new different subgroups in early-stage bladder tumors

artículo científico publicado en 2009

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency

scientific article published on 16 May 2014

Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments

artículo científico publicado en 2008

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

artículo científico publicado en 1997

Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.

artículo científico publicado en 2001

Enhanced pancreatic tumor regression by a combination of adenovirus and retrovirus-mediated delivery of the herpes simplex virus thymidine kinase gene

artículo científico publicado en 1999

Fetal liver-derived mesenchymal stem cell engraftment after allogeneic in utero transplantation into rabbits

artículo científico publicado en 2011

First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22).

artículo científico publicado en 2009

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

artículo científico publicado en 2001

HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression

artículo científico publicado en 2000

Hepatitis A virus receptor blocks cell differentiation and is overexpressed in clear cell renal cell carcinoma

artículo científico publicado en 2004

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene

artículo científico publicado en 2000

High-titer retroviral vectors containing the enhanced green fluorescent protein gene for efficient expression in hematopoietic cells.

artículo científico publicado en 1997

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

artículo científico publicado en 2002

Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients

artículo científico publicado en 2006

Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2

artículo científico publicado en 1997

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

artículo científico publicado en 2007

Molecular cloning, characterization, and chromosomal localization of the mouse homologue of CD84, a member of the CD2 family of cell surface molecules

artículo científico publicado en 1999

Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6-bisphosphatase gene (PFKFB3)

artículo científico publicado en 1998

Nanofluidic Digital PCR and Extended Genotyping of RAS and BRAF for Improved Selection of Metastatic Colorectal Cancer Patients for Anti-EGFR Therapies.

artículo científico publicado en 2016

Orthoxenografts of testicular germ cell tumors demonstrate genomic changes associated with cisplatin resistance and identify PDMP as a re-sensitizing agent

artículo científico publicado en 2018

PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks

artículo científico publicado en 2001

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

artículo científico publicado en 1998

Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells.

artículo científico publicado en 1998

Stromal interaction molecule 2 (STIM2) is frequently overexpressed in colorectal tumors and confers a tumor cell growth suppressor phenotype

artículo científico publicado en 2011

Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells

article

The human HERC3 gene maps to chromosome 4q21 by fluorescence in situ hybridization.

artículo científico publicado en 1999

The human intersectin genes and their spliced variants are differentially expressed

artículo científico publicado en 2001

The β-interferon scaffold attachment region confers high-level transgene expression and avoids extinction by epigenetic modifications of integrated provirus in adipose tissue-derived human mesenchymal stem cells

artículo científico publicado en 2010

Tissue imprints or primary cultures: which strategy to use to study cytogenetic clonality?

artículo científico publicado en 2005

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

artículo científico publicado en 1996

[Bourneville's tuberous sclerosis associated with double uterus and vagina (didelphic uterus)]

artículo científico publicado en 1999

Lista de obras de Marga Nadal

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

A patient with autistic disorder and a 20/22 chromosomal translocation.

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer.

Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: a possible sign of aging rather than an indicator of carcinogenesis?

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

CD84 leukocyte antigen is a new member of the Ig superfamily

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.

Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene

Comparative genomic hybridization analysis reveals new different subgroups in early-stage bladder tumors

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency

Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.

Enhanced pancreatic tumor regression by a combination of adenovirus and retrovirus-mediated delivery of the herpes simplex virus thymidine kinase gene

Fetal liver-derived mesenchymal stem cell engraftment after allogeneic in utero transplantation into rabbits

First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22).

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression

Hepatitis A virus receptor blocks cell differentiation and is overexpressed in clear cell renal cell carcinoma

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene

High-titer retroviral vectors containing the enhanced green fluorescent protein gene for efficient expression in hematopoietic cells.

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients

Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

Molecular cloning, characterization, and chromosomal localization of the mouse homologue of CD84, a member of the CD2 family of cell surface molecules

Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6-bisphosphatase gene (PFKFB3)

Nanofluidic Digital PCR and Extended Genotyping of RAS and BRAF for Improved Selection of Metastatic Colorectal Cancer Patients for Anti-EGFR Therapies.

Orthoxenografts of testicular germ cell tumors demonstrate genomic changes associated with cisplatin resistance and identify PDMP as a re-sensitizing agent

PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells.

Stromal interaction molecule 2 (STIM2) is frequently overexpressed in colorectal tumors and confers a tumor cell growth suppressor phenotype

Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells

The human HERC3 gene maps to chromosome 4q21 by fluorescence in situ hybridization.

The human intersectin genes and their spliced variants are differentially expressed

The β-interferon scaffold attachment region confers high-level transgene expression and avoids extinction by epigenetic modifications of integrated provirus in adipose tissue-derived human mesenchymal stem cells

Tissue imprints or primary cultures: which strategy to use to study cytogenetic clonality?

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

[Bourneville's tuberous sclerosis associated with double uterus and vagina (didelphic uterus)]