List of works - Marga Nadal

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

scientific article published on 01 August 2001

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

scientific article published in July 1998

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

scientific article

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

scientific article published in July 2008

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

scientific article published in July 2007

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

scientific article

CD84 leukocyte antigen is a new member of the Ig superfamily

scientific article

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

scientific article published in January 2001

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

scientific article

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

scientific article

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

scientific article published on 3 August 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

scientific article published on 16 May 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.

scientific article

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

scientific article

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

scientific article published in April 1999

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

scientific article published on June 2011

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

scientific article published in May 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in May 2000

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

scientific article published on November 1997

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

scientific article

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

scientific article

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

scientific article (publication date: 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

scientific article published in February 2007

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

scientific article

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

scientific article (publication date: 1998)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 January 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.

scientific article published in January 1998

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

scientific article published on 30 August 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.

scientific article

The human intersectin genes and their spliced variants are differentially expressed

scientific article

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

scientific article published on 29 October 2010

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

scientific article published on 01 December 2005

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

scientific article published on October 1996

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

scientific article published on 01 October 1999

List of works by 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)]