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Cytogenetics of Down Syndrome
49,90 € *
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Cytogenetics of Down Syndrome ab 49.9 € als Taschenbuch: Clinical and Cytogenetic profile in patients with Down syndrome in Duhok province Kurdistan region-Iraq. Aus dem Bereich: Bücher, Wissenschaft, Biologie,

Anbieter: hugendubel
Stand: 31.05.2020
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Cytogenetics of Down Syndrome
49,90 € *
ggf. zzgl. Versand

Cytogenetics of Down Syndrome ab 49.9 EURO Clinical and Cytogenetic profile in patients with Down syndrome in Duhok province Kurdistan region-Iraq

Anbieter: ebook.de
Stand: 31.05.2020
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Cytogenetics of Down Syndrome
49,90 € *
ggf. zzgl. Versand

Down syndrome is the most common autosomal chromosomal aneuploidy in human and the best known of all malformation syndromes associated with developmental delay, mental retardation and several characteristic physical features. The birth prevalence of Down syndrome is approximately 1 in 650-1000 live-born children world-wide which make the syndrome the most common cause of mental retardation. According to the American College of Obstetricians and Gynecologists reports a woman's risk for having a child with Down syndrome is 1 in 1,000 at age of 30, 1 in 400 at age of 35, and 1 in 100 at age of 40. Generally, more than 95% of Down syndrome individuals have trisomy 21 which results from non-disjunction error during gametogenesis in chromosome 21. About 2-4% results from a translocation of chromosome 21, while only 1-2% is mosaicism that showing a normal cell line additionally to trisomy. Mosaic Down syndrome individuals may be phenotypically less severely affected than Individuals in trisomy or translocation, but their conditions are indistinguishable in all other aspects.

Anbieter: Dodax
Stand: 31.05.2020
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Handbook of Chromosomal Syndromes
297,00 CHF *
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In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: * A section devoted to the nomenclature of chromosome abnormalities * Pictorial material suitable to be shown to patient populations * Descriptions of the phenotype in tabular and text form for quick and easy reference * Ideograms for each entry * A list of key references Practicing clinicians-including primary care providers, pediatricians, and obstetricians-genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.

Anbieter: Orell Fuessli CH
Stand: 31.05.2020
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Atlas of Differential Diagnosis in Neoplastic H...
200,00 CHF *
ggf. zzgl. Versand

'Preface The field of neoplastic hematology is changing rapidly and the management of patients relies more than ever on morphologic, immunophenotypic, karyotypic, and genetic characteristics We are witnessing the emergence of truly individualized approaches to treatment; therefore, morphologic and even extensive immunophenotypic analyses of tumors are not sufficient anymore, as diagnosis, prognosis, and treatment strategies depend heavily on the molecular makeup of tumors Acute myeloid leukemias (AMLs) are now classified based on specific chromosomal changes and mutational status of an expanding list of genes The prognosis of patients with AML cannot be established by a single methodology such as metaphase cytogenetics or even evaluation of the mutation of one gene [e g , concomitant KIT mutations occurring in the context of core-binding factor-positive AML confer a negative prognosis and NPM1+ AML has a good prognosis only if associated with wild-type fms-related tyrosine kinase 3 gene (FLT3)] The list of mature B- and T-cell lymphoproliferations, both nodal and extranodal, continues to expand and includes (among others) 'gray zone' lymphomas (double-hit lymphomas), T-cell lymphomas with a follicular T-helper phenotype, and numerous morphologic and immunophenotypic variants of diffuse large B-cell lymphoma Myeloproliferative neoplasms are classified based on the status of JAK2, BCR-ABL1, KIT, and PDGFRA, with morphologic analysis of the bone marrow still playing a crucial role Flow cytometric analysis with 6-, 8-, or even 10-color methodologies helps in the diagnosis and subclassification of acute leukemias as well as B- and T-cell lymphomas, but is also expanding its role in patients with myelodysplastic syndrome (MDS) or myeloproliferative neoplasms'--

Anbieter: Orell Fuessli CH
Stand: 31.05.2020
Zum Angebot
Cytogenetic Abnormalities
120,00 CHF *
ggf. zzgl. Versand

Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. * A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers * Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports * Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities * Describes a wide array of cytogenetic abnormalities observed in the laboratory * Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Anbieter: Orell Fuessli CH
Stand: 31.05.2020
Zum Angebot
Handbook of Chromosomal Syndromes
227,99 € *
ggf. zzgl. Versand

In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: * A section devoted to the nomenclature of chromosome abnormalities * Pictorial material suitable to be shown to patient populations * Descriptions of the phenotype in tabular and text form for quick and easy reference * Ideograms for each entry * A list of key references Practicing clinicians-including primary care providers, pediatricians, and obstetricians-genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.

Anbieter: Thalia AT
Stand: 31.05.2020
Zum Angebot
Atlas of Differential Diagnosis in Neoplastic H...
337,99 € *
ggf. zzgl. Versand

'Preface The field of neoplastic hematology is changing rapidly and the management of patients relies more than ever on morphologic, immunophenotypic, karyotypic, and genetic characteristics We are witnessing the emergence of truly individualized approaches to treatment; therefore, morphologic and even extensive immunophenotypic analyses of tumors are not sufficient anymore, as diagnosis, prognosis, and treatment strategies depend heavily on the molecular makeup of tumors Acute myeloid leukemias (AMLs) are now classified based on specific chromosomal changes and mutational status of an expanding list of genes The prognosis of patients with AML cannot be established by a single methodology such as metaphase cytogenetics or even evaluation of the mutation of one gene [e g , concomitant KIT mutations occurring in the context of core-binding factor-positive AML confer a negative prognosis and NPM1+ AML has a good prognosis only if associated with wild-type fms-related tyrosine kinase 3 gene (FLT3)] The list of mature B- and T-cell lymphoproliferations, both nodal and extranodal, continues to expand and includes (among others) 'gray zone' lymphomas (double-hit lymphomas), T-cell lymphomas with a follicular T-helper phenotype, and numerous morphologic and immunophenotypic variants of diffuse large B-cell lymphoma Myeloproliferative neoplasms are classified based on the status of JAK2, BCR-ABL1, KIT, and PDGFRA, with morphologic analysis of the bone marrow still playing a crucial role Flow cytometric analysis with 6-, 8-, or even 10-color methodologies helps in the diagnosis and subclassification of acute leukemias as well as B- and T-cell lymphomas, but is also expanding its role in patients with myelodysplastic syndrome (MDS) or myeloproliferative neoplasms'--

Anbieter: Thalia AT
Stand: 31.05.2020
Zum Angebot
Cytogenetic Abnormalities
109,99 € *
ggf. zzgl. Versand

Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. * A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers * Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports * Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities * Describes a wide array of cytogenetic abnormalities observed in the laboratory * Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Anbieter: Thalia AT
Stand: 31.05.2020
Zum Angebot