Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Abschlussarbeit Buch |
| Sprache: | English |
| Veröffentlicht: |
2005
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| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 115 S. graph. Darst. 31 cm |
Internformat
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| 245 | 1 | 0 | |a Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |c vorgelegt von Yvonne Böttcher, geb. Bayer |
| 264 | 1 | |c 2005 | |
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| 336 | |b txt |2 rdacontent | ||
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| 502 | |a Leipzig, Univ., Diss., 2005 | ||
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Datensatz im Suchindex
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TABLE
OF
CONTENTS
1
TABLE
OF
CONTENTS
TABLE
OF
CONTENTS
1
ABBREVIATIONS
5
BIBLIOGRAPHISCHE
BESCHREIBUNG
7
SUMMARY
9
ZUSAMMENFASSUNG
13
CHAPTER
1
17
INTRODUCTION:
PATHOGENESIS
AND
GENETIC
ETIOLOGY
OF
EUTHYROID
GOITER
17
1.1
EUTHYROID
GOITER
18
1.3
CANDIDATE
LOCI
20
1.4
LINKAGE
ANALYSIS
22
1.5
OBJECTIVE
OF
THE
STUDY
25
1.6
REFERENCES
27
CHAPTER
2
35
FURTHER
INDICATIONS
FOR
GENETIC
HETEROGENEITY
OF
EUTHYROID
FAMILIAL
GOITER
35
2.1
ABSTRACT
36
2.2
INTRODUCTION
37
2.3
SUBJECTS
AND
METHODS
39
2.3.1
FAMILIES
39
2.3.2
GENOTYPING
41
2.3.3
LINKAGE
ANALYSIS
41
2.3.4
SEQUENCING
OF
THE
PDS
GENE
42
2.3.5
AUDIOLOGICAL
INVESTIGATION
AND
PERCHLORATE
DISCHARGE
TEST
42
2.4
RESULTS
43
2.4.1
THE
CANDIDATE
LOCUS
MNG-1
44
2
TABLE
OF
CONTENTS
2.4.2
THE
CANDIDATE
LOCUS
XP22
45
2.4.3
THYROID
CANDIDATE
GENES
TG,
TPO,
AND
NIS
46
2.4.4
IS
THE
PENDRED
SYNDROME
GENE
A
CANDIDATE
LOCUS?
46
2.4.5
SEQUENCING
OF
THE
PDS
GENE
OF
MEMBERS
OF
FAMILY
1
WITH
RISK
HAPLOTYPE
47
2.4.6
AUDIOLOGICAL
INVESTIGATION
AND
PERCHLORATE
DISCHARGE
TEST
IN
FAMILY
1
48
2.5
DISCUSSION
49
2.6
ACKNOWLEDGEMENTS
53
2.7
REFERENCES
54
CHAPTER
3
61
GENOME-WIDE
LINKAGE
ANALYSIS
REVEALS
EVIDENCE
FOR
FOUR
NEW
SUSCEPTIBILITY
LOCI
FOR
FAMILIAL
EUTHYROID
GOITER
61
3.1
ABSTRACT
62
3.2
INTRODUCTION
62
3.3
SUBJECTS
AND
METHODS
64
3.3.1
FAMILIES
64
3.3.2
GENOTYPING
65
3.3.3
STATISTICAL
ANALYSIS
65
3.3.4
DIRECT
SEQUENCING
OF
THE
CANDIDATE
GENES
TRIP12
(2Q,)
THRB
(3P)
AND
TRIP6
(7Q)
66
3.4
RESULTS
67
3.5
DISCUSSION
73
3.6
ACKNOWLEDGEMENTS
76
3.7
REFERENCES
77
CHAPTER
4
83
FINE
MAPPING
OF
THR
3P24
LOCUS
INVOLVED
IN
SUSCEPTIBILITY
TO
EUTHYROID
FAMILIAL
GOITER
83
4.1
ABSTRACT
84
4.2
INTRODUCTION
84
4.3
SUBJECTS
AND
METHODS
85
4.3.1
FAMILIES
85
4.3.2
GENOTYPING
86
3
TABLE
OF
CONTENTS
4.3.3
STATISTICAL
ANALYSIS
87
4.4
RESULTS
88
4.5
DISCUSSION
91
4.6
ACKNOWLEDGEMENTS
92
4.7
REFERENCES
93
CHAPTER
5
95
THE
NOVEL
MISSENSE
MUTATION
METHIONINE
442
THREONINE
IN
THE
THYROID
HORMONE
RECEPTOR
P
CAUSES
THYROID
HORMONE
RESISTANCE:
A
CASE
REPORT
95
5.1
SUMMARY
96
5.2
INTRODUCTION
96
5.3
MATERIAL
AND
METHODS
96
5.4
PATIENTS
AND
RESULTS
97
5.5
DISCUSSION
99
5.6
ELECTRONIC
DATABASE
INFORMATION
100
5.7
REFERENCES
101
CHAPTER
6
103
THYROID
HORMONE
RESISTANCE
IN
A
PATIENT
WITHOUT
THYROID
HORMONE
RECEPTOR
P
MUTATIONS
103
6.1
SUMMARY
104
6.2
INTRODUCTION
104
6.3
MATERIAL
AND
METHODS
105
6.4
CASE
REPORT
105
6.5
DISCUSSION
106
6.6
REFERENCES
107
PUBLICATIONS
109
POSTERS
110
ORAL
PRESENTATIONS
111
CURRICULUM
VITAE
113 |
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| index_date | 2024-07-02T14:15:01Z |
| indexdate | 2024-11-22T17:42:12Z |
| institution | BVB |
| language | English |
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| spelling | Böttcher, Yvonne 1977- Verfasser (DE-588)129790877 aut Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci vorgelegt von Yvonne Böttcher, geb. Bayer 2005 115 S. graph. Darst. 31 cm txt rdacontent n rdamedia nc rdacarrier Leipzig, Univ., Diss., 2005 Genetische Variabilität (DE-588)4264352-1 gnd rswk-swf Kropf (DE-588)4073843-7 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content Kropf (DE-588)4073843-7 s Genetische Variabilität (DE-588)4264352-1 s b DE-604 DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014716346&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Böttcher, Yvonne 1977- Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci Genetische Variabilität (DE-588)4264352-1 gnd Kropf (DE-588)4073843-7 gnd |
| subject_GND | (DE-588)4264352-1 (DE-588)4073843-7 (DE-588)4113937-9 |
| title | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| title_auth | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| title_exact_search | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| title_exact_search_txtP | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| title_full | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci vorgelegt von Yvonne Böttcher, geb. Bayer |
| title_fullStr | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci vorgelegt von Yvonne Böttcher, geb. Bayer |
| title_full_unstemmed | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci vorgelegt von Yvonne Böttcher, geb. Bayer |
| title_short | Genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| title_sort | genetic heterogeneity of euthyroid familial goiter and identification of novel susceptibility loci |
| topic | Genetische Variabilität (DE-588)4264352-1 gnd Kropf (DE-588)4073843-7 gnd |
| topic_facet | Genetische Variabilität Kropf Hochschulschrift |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014716346&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT bottcheryvonne geneticheterogeneityofeuthyroidfamilialgoiterandidentificationofnovelsusceptibilityloci |