Genetic diagnosis of endocrine disorders:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Amsterdam [u.a.]
Elsevier, Acad. Press
2010
|
| Ausgabe: | 1. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | X, 323 S. Ill., graph. Darst. |
| ISBN: | 9780123744302 012374430X |
Internformat
MARC
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| 020 | |a 9780123744302 |9 978-0-12-374430-2 | ||
| 020 | |a 012374430X |9 0-12-374430-X | ||
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| 245 | 1 | 0 | |a Genetic diagnosis of endocrine disorders |c ed. by Roy E. Weiss ... |
| 250 | |a 1. ed. | ||
| 264 | 1 | |a Amsterdam [u.a.] |b Elsevier, Acad. Press |c 2010 | |
| 300 | |a X, 323 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
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| 999 | |a oai:aleph.bib-bvb.de:BVB01-020592930 | ||
Datensatz im Suchindex
| _version_ | 1804143299805577216 |
|---|---|
| adam_text | Contents
Contributors
Preface
introduction
CHAPTER
1
Mechanisms of Mutation
Bernard S. Strauss
Pancreas
VII
ix
Pituitary
CHAPTER
5
Functioning Pituitary Adenomas
Albert Beckers and Adrian F. Daly
CHAPTER
6
Diabetes Insipidus
Soren Rittig and Jane H. Christensen
CHAPTER
7
States of Pituitary Hypofunction
Christopher J. Romero and Sally Radovick
55
67
75
CHAPTER
2
Genetic Testing in Diabetes Mellitus:
A Clinical Guide to
Monogenie
Diabetes
17
Louis H. Philipson, Rinki Murphy, Sian Ellard,
Andrew T. Hattersley, Julie
St0y, Siri
A. Greeley,
Graeme I. Bell and Kenneth S. Polonsky
CHAPTER
3
Obesity
27
Beatrice Dubern, Patrick Tounian and
Karine
Clément
CHAPTER
4
Syndromes of Severe Insulin Resistance
and/or Lipodystrophy
39
Robert K. Semple, David B. Savage, David J. Halsall
and Stephen O Rahilly
Thyroid
CHAPTER
8
Congenital Defects of Thyroid Hormone
Synthesis
87
Helmut
Grasberger
and Samuel Refetoff
CHAPTER
9
Developmental Abnormalities of the
Thyroid
97
Joachim
Pohlenz
and Guy Van
Vliet
CHAPTER
10
Syndromes of Reduced Sensitivity to
Thyroid Hormone
105
Roy E. Weiss, Alexandra M. Dumitrescu and
Samuel Refetoff
VI
Contents
CHAPTER
11
Molecular Genetics of Thyroid Cancer:
Pathogenetic Significance and Clinical
Applications
117
Nicholas Mitsiades and James A. Fagin
Parathyroid and Bone
CHAPTER
12
Genetics of Hyperparathyroidism Including
Parathyroid Cancer
141
Andrew Arnold and Kelly
Lauter
CHAPTER
13
Genetic Diagnosis of Skeletal Dysplasias
Benjamin
Alman
CHAPTER
14
Vitamin
D
Disorders
155
Michael F. Holick
Adrenal
CHAPTER
15
Congenital Adrenal Hyperplasia
165
Saroj Nimkarn and Maria I. New
CHAPTER
16
Genetics of Adrenocortical Tumors
(ACT) and Hypersecretory Syndromes
173
Rossella
Libé,
Lionel Groussin,
Jérôme
Bertherat
and
Xavier
Bertagna
CHAPTER
17
Hereditary Pheochromocytoma and Multiple
Endocrine
Neoplasia
Type
2
(MEN2)
181
Thereasa A. Rich,
Camilo
Jimenez and Douglas B. Evans
CHAPTER
18
Genetic Conditions Associated with
Congenital Adrenocortical Insufficiency or
Glucocorticoid and/or Mineralocorticoid
Resistance
193
Constantine
A. Stratakis
Reproductive
CHAPTER
19
Genetic Considerations in the Evaluation
of Menstrual Cycle Irregularities
207
Leslie Hoffman and David A. Ehrmann
CHAPTER
20
Genetic Diagnosis of Hypogonadotropic
Hypogonadism and Kallmann Syndrome
Lawrence
С
Layman
CHAPTER
21
Disorders of Sex Development
Valerie
A. Arboleda,
Alice A. Fleming and
Eric Vilain
CHAPTER
22
Genetic Defects of
Androgen
Resistance
Kenan Qin
217
227
245
149
Multisystem Disorders
CHAPTER
23
Multiple Endocrine
Neoplasia
Type
1
(MEND
Cornells J.M. Lips,
Koen M.A.
Dreijerink,
Rob B. van
der Luijt,
Bernadette
P.M. van Nesselrooij
and Jo W.M.
Höppener
CHAPTER
24
Genetics of Polyglandular Failure
Manuela
Dittmar and George J. Kahaly
Growth
CHAPTER
25
Genetic Diagnosis of Growth Failure
Ron G.
Rosenfeld
and Vivian Hwa
Counseling and Laboratory
CHAPTER
26
Genetic Counseling
Shelly Cummings
CHAPTER
27
Setting up a Laboratory
Loren J.
Joseph
Index
Color Plates
261
271
283
293
303
315
|
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| illustrated | Illustrated |
| indexdate | 2024-07-09T22:45:28Z |
| institution | BVB |
| isbn | 9780123744302 012374430X |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-020592930 |
| oclc_num | 699668740 |
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| owner_facet | DE-355 DE-BY-UBR |
| physical | X, 323 S. Ill., graph. Darst. |
| publishDate | 2010 |
| publishDateSearch | 2010 |
| publishDateSort | 2010 |
| publisher | Elsevier, Acad. Press |
| record_format | marc |
| spelling | Genetic diagnosis of endocrine disorders ed. by Roy E. Weiss ... 1. ed. Amsterdam [u.a.] Elsevier, Acad. Press 2010 X, 323 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Genetik (DE-588)4071711-2 gnd rswk-swf Diagnostik (DE-588)4113303-1 gnd rswk-swf Endokrinopathie (DE-588)4113435-7 gnd rswk-swf Endokrinopathie (DE-588)4113435-7 s Diagnostik (DE-588)4113303-1 s Genetik (DE-588)4071711-2 s DE-604 Weiss, Roy E. Sonstige oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=020592930&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Genetic diagnosis of endocrine disorders Genetik (DE-588)4071711-2 gnd Diagnostik (DE-588)4113303-1 gnd Endokrinopathie (DE-588)4113435-7 gnd |
| subject_GND | (DE-588)4071711-2 (DE-588)4113303-1 (DE-588)4113435-7 |
| title | Genetic diagnosis of endocrine disorders |
| title_auth | Genetic diagnosis of endocrine disorders |
| title_exact_search | Genetic diagnosis of endocrine disorders |
| title_full | Genetic diagnosis of endocrine disorders ed. by Roy E. Weiss ... |
| title_fullStr | Genetic diagnosis of endocrine disorders ed. by Roy E. Weiss ... |
| title_full_unstemmed | Genetic diagnosis of endocrine disorders ed. by Roy E. Weiss ... |
| title_short | Genetic diagnosis of endocrine disorders |
| title_sort | genetic diagnosis of endocrine disorders |
| topic | Genetik (DE-588)4071711-2 gnd Diagnostik (DE-588)4113303-1 gnd Endokrinopathie (DE-588)4113435-7 gnd |
| topic_facet | Genetik Diagnostik Endokrinopathie |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=020592930&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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