Congenital Heart Disease: Molecular Diagnostics
Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagno...
Gespeichert in:
| Weitere Verfasser: | |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Totowa, NJ
Humana Press
2006
|
| Schriftenreihe: | Methods in Molecular Medicine
126 |
| Schlagworte: | |
| Online-Zugang: | DE-355 DE-91 Volltext |
| Zusammenfassung: | Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls. Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease |
| Beschreibung: | 1 Online-Ressource (X, 278 p) |
| ISBN: | 9781597450881 |
| DOI: | 10.1385/159745088X |
Internformat
MARC
| LEADER | 00000nmm a2200000zcb4500 | ||
|---|---|---|---|
| 001 | BV044952401 | ||
| 003 | DE-604 | ||
| 005 | 20180829 | ||
| 007 | cr|uuu---uuuuu | ||
| 008 | 180517s2006 |||| o||u| ||||||eng d | ||
| 020 | |a 9781597450881 |9 978-1-59745-088-1 | ||
| 024 | 7 | |a 10.1385/159745088X |2 doi | |
| 035 | |a (ZDB-2-PRO)978-1-59745-088-1 | ||
| 035 | |a (OCoLC)890642730 | ||
| 035 | |a (DE-599)BVBBV044952401 | ||
| 040 | |a DE-604 |b ger |e rda | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-355 |a DE-91 | ||
| 050 | 0 | |a RC687 | |
| 082 | 0 | |a 616.12 |2 23 | |
| 082 | 0 | |a 616.1/042 | |
| 084 | |a YB 9616 |0 (DE-625)153179:12922 |2 rvk | ||
| 245 | 1 | 0 | |a Congenital Heart Disease |b Molecular Diagnostics |c edited by Mary Kearns-Jonker |
| 264 | 1 | |a Totowa, NJ |b Humana Press |c 2006 | |
| 300 | |a 1 Online-Ressource (X, 278 p) | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b c |2 rdamedia | ||
| 338 | |b cr |2 rdacarrier | ||
| 490 | 0 | |a Methods in Molecular Medicine |v 126 | |
| 520 | |a Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls. Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease | ||
| 650 | 4 | |a Medicine & Public Health | |
| 650 | 4 | |a Cardiology | |
| 650 | 4 | |a Medicine | |
| 650 | 4 | |a Cardiology | |
| 650 | 0 | 7 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Molekulare Diagnostik |0 (DE-588)4589005-5 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Herzfehler |0 (DE-588)4024646-2 |2 gnd |9 rswk-swf |
| 689 | 0 | 0 | |a Herzfehler |0 (DE-588)4024646-2 |D s |
| 689 | 0 | 1 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |D s |
| 689 | 0 | 2 | |a Molekulare Diagnostik |0 (DE-588)4589005-5 |D s |
| 689 | 0 | |C b |5 DE-604 | |
| 700 | 1 | |a Kearns-Jonker, Mary |4 edt | |
| 776 | 0 | 8 | |i Erscheint auch als |n Druck-Ausgabe |z 9781588293756 |
| 856 | 4 | 0 | |u https://doi.org/10.1385/159745088X |x Verlag |z URL des Erstveröffentlichers |3 Volltext |
| 912 | |a ZDB-2-PRO | ||
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-030345156 | |
| 966 | e | |u https://doi.org/10.1385/159745088X |l DE-355 |p ZDB-2-PRO |x Verlag |3 Volltext | |
| 966 | e | |u https://doi.org/10.1385/159745088X |l DE-91 |p ZDB-2-PRO |x Verlag |3 Volltext | |
Datensatz im Suchindex
| _version_ | 1809493933045055488 |
|---|---|
| adam_text | |
| any_adam_object | |
| author2 | Kearns-Jonker, Mary |
| author2_role | edt |
| author2_variant | m k j mkj |
| author_facet | Kearns-Jonker, Mary |
| building | Verbundindex |
| bvnumber | BV044952401 |
| callnumber-first | R - Medicine |
| callnumber-label | RC687 |
| callnumber-raw | RC687 |
| callnumber-search | RC687 |
| callnumber-sort | RC 3687 |
| callnumber-subject | RC - Internal Medicine |
| classification_rvk | YB 9616 |
| collection | ZDB-2-PRO |
| ctrlnum | (ZDB-2-PRO)978-1-59745-088-1 (OCoLC)890642730 (DE-599)BVBBV044952401 |
| dewey-full | 616.12 616.1/042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.12 616.1/042 |
| dewey-search | 616.12 616.1/042 |
| dewey-sort | 3616.12 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1385/159745088X |
| format | Electronic eBook |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>00000nmm a2200000zcb4500</leader><controlfield tag="001">BV044952401</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20180829</controlfield><controlfield tag="007">cr|uuu---uuuuu</controlfield><controlfield tag="008">180517s2006 |||| o||u| ||||||eng d</controlfield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9781597450881</subfield><subfield code="9">978-1-59745-088-1</subfield></datafield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1385/159745088X</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ZDB-2-PRO)978-1-59745-088-1</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)890642730</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV044952401</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield><subfield code="a">DE-91</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC687</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.12</subfield><subfield code="2">23</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.1/042</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">YB 9616</subfield><subfield code="0">(DE-625)153179:12922</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Congenital Heart Disease</subfield><subfield code="b">Molecular Diagnostics</subfield><subfield code="c">edited by Mary Kearns-Jonker</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Totowa, NJ</subfield><subfield code="b">Humana Press</subfield><subfield code="c">2006</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 Online-Ressource (X, 278 p)</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="490" ind1="0" ind2=" "><subfield code="a">Methods in Molecular Medicine</subfield><subfield code="v">126</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls. Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Medicine & Public Health</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Cardiology</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Medicine</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Cardiology</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Molekulare Diagnostik</subfield><subfield code="0">(DE-588)4589005-5</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Herzfehler</subfield><subfield code="0">(DE-588)4024646-2</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Herzfehler</subfield><subfield code="0">(DE-588)4024646-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="2"><subfield code="a">Molekulare Diagnostik</subfield><subfield code="0">(DE-588)4589005-5</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="C">b</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kearns-Jonker, Mary</subfield><subfield code="4">edt</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Erscheint auch als</subfield><subfield code="n">Druck-Ausgabe</subfield><subfield code="z">9781588293756</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1385/159745088X</subfield><subfield code="x">Verlag</subfield><subfield code="z">URL des Erstveröffentlichers</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-2-PRO</subfield></datafield><datafield tag="943" ind1="1" ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-030345156</subfield></datafield><datafield tag="966" ind1="e" ind2=" "><subfield code="u">https://doi.org/10.1385/159745088X</subfield><subfield code="l">DE-355</subfield><subfield code="p">ZDB-2-PRO</subfield><subfield code="x">Verlag</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="966" ind1="e" ind2=" "><subfield code="u">https://doi.org/10.1385/159745088X</subfield><subfield code="l">DE-91</subfield><subfield code="p">ZDB-2-PRO</subfield><subfield code="x">Verlag</subfield><subfield code="3">Volltext</subfield></datafield></record></collection> |
| id | DE-604.BV044952401 |
| illustrated | Not Illustrated |
| indexdate | 2024-09-07T00:11:29Z |
| institution | BVB |
| isbn | 9781597450881 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-030345156 |
| oclc_num | 890642730 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-91 DE-BY-TUM |
| owner_facet | DE-355 DE-BY-UBR DE-91 DE-BY-TUM |
| physical | 1 Online-Ressource (X, 278 p) |
| psigel | ZDB-2-PRO |
| publishDate | 2006 |
| publishDateSearch | 2006 |
| publishDateSort | 2006 |
| publisher | Humana Press |
| record_format | marc |
| series2 | Methods in Molecular Medicine |
| spelling | Congenital Heart Disease Molecular Diagnostics edited by Mary Kearns-Jonker Totowa, NJ Humana Press 2006 1 Online-Ressource (X, 278 p) txt rdacontent c rdamedia cr rdacarrier Methods in Molecular Medicine 126 Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls. Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease Medicine & Public Health Cardiology Medicine Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Molekulare Diagnostik (DE-588)4589005-5 gnd rswk-swf Herzfehler (DE-588)4024646-2 gnd rswk-swf Herzfehler (DE-588)4024646-2 s Angeborene Krankheit (DE-588)4331107-6 s Molekulare Diagnostik (DE-588)4589005-5 s b DE-604 Kearns-Jonker, Mary edt Erscheint auch als Druck-Ausgabe 9781588293756 https://doi.org/10.1385/159745088X Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Congenital Heart Disease Molecular Diagnostics Medicine & Public Health Cardiology Medicine Angeborene Krankheit (DE-588)4331107-6 gnd Molekulare Diagnostik (DE-588)4589005-5 gnd Herzfehler (DE-588)4024646-2 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4589005-5 (DE-588)4024646-2 |
| title | Congenital Heart Disease Molecular Diagnostics |
| title_auth | Congenital Heart Disease Molecular Diagnostics |
| title_exact_search | Congenital Heart Disease Molecular Diagnostics |
| title_full | Congenital Heart Disease Molecular Diagnostics edited by Mary Kearns-Jonker |
| title_fullStr | Congenital Heart Disease Molecular Diagnostics edited by Mary Kearns-Jonker |
| title_full_unstemmed | Congenital Heart Disease Molecular Diagnostics edited by Mary Kearns-Jonker |
| title_short | Congenital Heart Disease |
| title_sort | congenital heart disease molecular diagnostics |
| title_sub | Molecular Diagnostics |
| topic | Medicine & Public Health Cardiology Medicine Angeborene Krankheit (DE-588)4331107-6 gnd Molekulare Diagnostik (DE-588)4589005-5 gnd Herzfehler (DE-588)4024646-2 gnd |
| topic_facet | Medicine & Public Health Cardiology Medicine Angeborene Krankheit Molekulare Diagnostik Herzfehler |
| url | https://doi.org/10.1385/159745088X |
| work_keys_str_mv | AT kearnsjonkermary congenitalheartdiseasemoleculardiagnostics |