Lista de obras - Mazin Qumsiyeh - Dominio Público Uruguay

A novel chromosomal rearrangement associated with therapy-related acute leukemia

artículo científico publicado en 1999

A novel immortalized human endometrial stromal cell line with normal progestational response

artículo científico publicado en 2004

A potential model for early stages of chromosomal evolution via concentric Robertsonian fans: a large area of polymorphism in southern short-tailed shrews (Blarina carolinensis)

scientific article published on 01 January 1999

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

artículo científico publicado en 2000

Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi

artículo científico publicado en 1990

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro

artículo científico publicado en 2005

Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively

artículo científico publicado en 1995

Central review of cytogenetics is necessary for cooperative group correlative and clinical studies of adult acute leukemia: the Cancer and Leukemia Group B experience

artículo científico publicado en 2008

Chromosome abnormalities in the placenta and spontaneous abortions ⬇️

artículo científico publicado el 1 de julio de 1998

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

artículo científico publicado en 1998

Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: amplification of 7q21-q31 and loss of 8p12-p21 in choriocarcinoma.

artículo científico

Cytogenetic abnormalities and the failure of development after round spermatid injections

artículo científico publicado en 2004

Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi

artículo científico publicado en 2000

De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.

artículo científico publicado en 1999

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

scientific article published on 01 January 1992

Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization

artículo científico publicado en 1995

Discrepancies in cytogenetic findings in chorionic villi ⬇️

artículo científico publicado el 1 de noviembre de 1997

Distal limb anomalies, Robin sequence, and deletions in 4q31-->qter

artículo científico publicado en 1994

Donor Y chromosome in renal carcinoma cells of a female BMT recipient: visualization of putative BMT-tumor hybrids by FISH

scientific article published on 01 May 2005

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy

artículo científico publicado en 2003

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

artículo científico publicado el 1 de agosto de 1992

ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers

artículo científico publicado en 2000

Evidence for eight tandem and five centric fusions in the evolution of the karyotype of Aethomys namaquensis A. Smith (Rodentia: Muridae).

artículo científico publicado en 1988

Evolution of number and morphology of mammalian chromosomes.

artículo científico publicado en 1994

F-MuLV acceleration of myelomonocytic tumorigenesis in SV40 large T antigen transgenic mice is accompanied by retroviral insertion at Fli1 and a novel locus, Fim4.

artículo científico publicado en 2002

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

artículo científico publicado en 2004

Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene

artículo científico publicado en 1998

Familial supernumerary marker chromosome evolution through three generations

scientific article published on 01 February 1998

Gene amplification and chromosome rearrangements: a study of a single cell lineage selected for amplification and deamplification of the UMP synthase gene.

artículo científico publicado en 1993

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

artículo científico publicado en 2008

Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF).

artículo científico publicado en 1997

High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement

artículo científico publicado en 1991

Identification of Putative Transmembrane Receptor Sequences Homologous to the Calcium-Sensing G-Protein-Coupled Receptor ⬇️

artículo científico publicado el 15 de octubre de 1997

Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes

scientific article published on 01 July 1991

Interphase detection of trisomy 12 in B-cell chronic lymphocytic leukemia by fluorescence hybridization in situ

scientific article published on 01 June 1992

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

artículo científico publicado en 2006

Localization of the adenosine deaminase, transferrin, and UMP synthetase genes on Chinese hamster chromosomes 4 and 6 by in situ hybridization.

artículo científico publicado en 1990

Morphological and cytogenetic analysis of intact oocytes and blocked zygotes.

artículo científico publicado en 2003

Natural killer cell lymphoma/leukemia with homozygous loss of p27/kip1.

artículo científico publicado en 2005

No Requirement for V(D)J Recombination in p53-Deficient Thymic Lymphoma ⬇️

artículo científico publicado el 1 de junio de 1998

Numerical chromosome abnormalities associated with early clinical stages of gynecologic tumors

artículo científico publicado en 1991

Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461

artículo científico publicado en 1998

Patients with t(8;21)(q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered

scientific article published on 01 December 1999

Postnatal developmental delay and chromosomal abnormalities

artículo científico publicado en 2000

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques

artículo científico publicado en 1995

Pretreatment cytogenetics add to other prognostic factors predicting complete remission and long-term outcome in patients 60 years of age or older with acute myeloid leukemia: results from Cancer and Leukemia Group B 8461.

artículo científico publicado en 2006

RET/papillary thyroid cancer rearrangement in nonneoplastic thyrocytes: follicular cells of Hashimoto's thyroiditis share low-level recombination events with a subset of papillary carcinoma.

artículo científico publicado en 2006

Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).

artículo científico publicado en 2005

Real-time quantitative RT-PCR of cyclin D1 mRNA in mantle cell lymphoma: comparison with FISH and immunohistochemistry.

artículo científico

Robertsonian chromosomal rearrangements in the short-tailed shrew, Blarina carolinensis, in western Tennessee

artículo científico publicado en 1997

Sensitivity and specificity of whole chromosome paint (WCP) probes are correlated with size of translocated segment.

artículo científico publicado en 1996

Structure and function of the nucleus: anatomy and physiology of chromatin.

artículo científico publicado en 1999

Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11.

artículo científico publicado en 1995

Telomerase prolongs the lifespan of normal human ovarian surface epithelial cells without inducing neoplastic phenotype.

artículo científico publicado en 2004

Tetrasomy 8 evolving into a segmental triplication 8q in a case of acute monocytic leukemia

artículo científico publicado en 2000

Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8

artículo científico publicado en 1999

Trisomy 6 acquired in lymphoid blast transformation of chronic myelocytic leukemia with t(9;22)

scientific article published on 01 August 2003

Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.

artículo científico publicado en 1993

Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization.

artículo científico publicado en 1998

Velo-facio-skeletal syndrome in a mother and daughter

artículo científico publicado en 1995

Lista de obras de Mazin Qumsiyeh

A novel chromosomal rearrangement associated with therapy-related acute leukemia

A novel immortalized human endometrial stromal cell line with normal progestational response

A potential model for early stages of chromosomal evolution via concentric Robertsonian fans: a large area of polymorphism in southern short-tailed shrews (Blarina carolinensis)

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro

Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively

Central review of cytogenetics is necessary for cooperative group correlative and clinical studies of adult acute leukemia: the Cancer and Leukemia Group B experience

Chromosome abnormalities in the placenta and spontaneous abortions ⬇️

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: amplification of 7q21-q31 and loss of 8p12-p21 in choriocarcinoma.

Cytogenetic abnormalities and the failure of development after round spermatid injections

Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi

De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization

Discrepancies in cytogenetic findings in chorionic villi ⬇️

Distal limb anomalies, Robin sequence, and deletions in 4q31-->qter

Donor Y chromosome in renal carcinoma cells of a female BMT recipient: visualization of putative BMT-tumor hybrids by FISH

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers

Evidence for eight tandem and five centric fusions in the evolution of the karyotype of Aethomys namaquensis A. Smith (Rodentia: Muridae).

Evolution of number and morphology of mammalian chromosomes.

F-MuLV acceleration of myelomonocytic tumorigenesis in SV40 large T antigen transgenic mice is accompanied by retroviral insertion at Fli1 and a novel locus, Fim4.

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene

Familial supernumerary marker chromosome evolution through three generations

Gene amplification and chromosome rearrangements: a study of a single cell lineage selected for amplification and deamplification of the UMP synthase gene.

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF).

High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement

Identification of Putative Transmembrane Receptor Sequences Homologous to the Calcium-Sensing G-Protein-Coupled Receptor ⬇️

Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes

Interphase detection of trisomy 12 in B-cell chronic lymphocytic leukemia by fluorescence hybridization in situ

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

Localization of the adenosine deaminase, transferrin, and UMP synthetase genes on Chinese hamster chromosomes 4 and 6 by in situ hybridization.

Morphological and cytogenetic analysis of intact oocytes and blocked zygotes.

Natural killer cell lymphoma/leukemia with homozygous loss of p27/kip1.

No Requirement for V(D)J Recombination in p53-Deficient Thymic Lymphoma ⬇️

Numerical chromosome abnormalities associated with early clinical stages of gynecologic tumors

Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461

Patients with t(8;21)(q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered

Postnatal developmental delay and chromosomal abnormalities

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques

Pretreatment cytogenetics add to other prognostic factors predicting complete remission and long-term outcome in patients 60 years of age or older with acute myeloid leukemia: results from Cancer and Leukemia Group B 8461.

RET/papillary thyroid cancer rearrangement in nonneoplastic thyrocytes: follicular cells of Hashimoto's thyroiditis share low-level recombination events with a subset of papillary carcinoma.

Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).

Real-time quantitative RT-PCR of cyclin D1 mRNA in mantle cell lymphoma: comparison with FISH and immunohistochemistry.

Robertsonian chromosomal rearrangements in the short-tailed shrew, Blarina carolinensis, in western Tennessee

Sensitivity and specificity of whole chromosome paint (WCP) probes are correlated with size of translocated segment.

Structure and function of the nucleus: anatomy and physiology of chromatin.

Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11.

Telomerase prolongs the lifespan of normal human ovarian surface epithelial cells without inducing neoplastic phenotype.

Tetrasomy 8 evolving into a segmental triplication 8q in a case of acute monocytic leukemia

Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8

Trisomy 6 acquired in lymphoid blast transformation of chronic myelocytic leukemia with t(9;22)

Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.

Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization.

Velo-facio-skeletal syndrome in a mother and daughter