1 |
Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
61
|
Chen LD...Li L
|
32266677 |
2020 |
2 |
Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report.
61
|
Dang PP...Teng XC
|
31799319 |
2019 |
3 |
Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
61
|
Gomes-Lima CJ...Lofrano-Porto A
|
29733970 |
2018 |
4 |
Directional thyroid hormone distribution via the blood stream to target sites.
61
|
Janssen ST...Janssen OE
|
28257828 |
2017 |
5 |
A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.
61
|
Pappa T...Refetoff S
|
28785540 |
2017 |
6 |
Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency.
61
|
Connelly KJ...LaFranchi SH
|
28910808 |
2017 |
7 |
A NOVEL MUTATION CAUSING COMPLETE THYROID BINDING GLOBULIN DEFICIENCY (TBG-CD MIA) IN A MALE WITH COEXISTING GRAVES DISEASE.
61
|
Berger HR...Weiss RE
|
28553659 |
2017 |
8 |
First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7.
61
|
Soheilipour F...Behnam B
|
27331012 |
2016 |
9 |
[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review].
61
|
Fang YL...Liang L
|
27256229 |
2016 |
10 |
Thyroxine binding globulin excess detected by neonatal screening.
61
|
Jin HY
|
27462589 |
2016 |
11 |
Challenges in interpretation of thyroid hormone test results.
61
|
Lalic T...Zarkovic M
|
27483566 |
2016 |
12 |
Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin.
61
|
Moeller LC...Fuhrer D
|
26601081 |
2015 |
13 |
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
61
|
Ferrara AM...Refetoff S
|
25361180 |
2015 |
14 |
A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.
61
|
Domingues R...Bugalho MJ
|
19415532 |
2009 |
15 |
A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency.
61
|
Lacka K...Lacki JK
|
17887925 |
2007 |
16 |
Pediatric thyroid testing issues.
61
|
DeBoer MD...Lafranchi SH
|
18167471 |
2007 |
17 |
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
61
|
Mannavola D...Beck-Peccoz P
|
16947003 |
2006 |
18 |
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls.
61
|
Kempers MJ...Vulsma T
|
16787990 |
2006 |
19 |
C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg.
61
|
Moeller LC...Janssen OE
|
16735497 |
2006 |
20 |
Thyroid hormone binding protein abnormalities in patients referred for thyroid disorders.
61
|
Bhatkar SV...Samuel AM
|
15489553 |
2004 |
21 |
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
61
|
Fingerhut A...Janssen OE
|
15126580 |
2004 |
22 |
Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
61
|
Narendran P...Refetoff S
|
14974930 |
2003 |
23 |
Impact of thyroxine-binding globulin on thyroid hormone economy during pregnancy.
61
|
Zigman JM...Garber JR
|
14751039 |
2003 |
24 |
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan.
61
|
Su CC...Jap TS
|
12641622 |
2003 |
25 |
Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency.
61
|
Domingues R...Sobrinho L
|
11916615 |
2002 |
26 |
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
61
|
Reutrakul S...Refetoff S
|
11889160 |
2002 |
27 |
[Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests].
61
|
Kvistad PH...Myking OL
|
11419101 |
2001 |
28 |
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.
61
|
Miura Y...Phillip M
|
11061524 |
2000 |
29 |
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency.
61
|
Carrel AL...Allen DB
|
10429016 |
1999 |
30 |
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
61
|
Carvalho GA...Refetoff S
|
9768672 |
1998 |
31 |
Lessons to the learned from TBG deficiency.
61
|
Barlow JW
|
9302364 |
1997 |
32 |
A novel mutation causing complete deficiency of thyroxine binding globulin.
61
|
Ueta Y...Shigemasa C
|
9302363 |
1997 |
33 |
Diagnostic and therapeutic confusion caused by TBG deficiency in an 18 years old adolescent.
61
|
Ploner O...Hehrmann R
|
9439924 |
1997 |
34 |
Molecular analysis of females manifesting thyroxine-binding globulin (TBG) deficiency: selective X-chromosome inactivation responsible for the difference between phenotype and genotype in TBG-deficient females.
61
|
Okamoto H...Oiso Y
|
8964852 |
1996 |
35 |
Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination.
61
|
Noguchi T...Kumahara Y
|
8739779 |
1996 |
36 |
Type II glycogenosis and thyroxine binding globulin deficiency in the same family.
61
|
Manta P...Papageorgiou C
|
8765758 |
1996 |
37 |
Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese.
61
|
Inagaki A...Oiso Y
|
8636271 |
1996 |
38 |
Measurement of serum free thyroid hormone concentrations: an essential tool for the diagnosis of thyroid dysfunction.
61
|
Bartalena L...Martino E
|
8964573 |
1996 |
39 |
Thyroxine-binding globulin: organization of the gene and variants.
61
|
Refetoff S...Hayashi Y
|
8964571 |
1996 |
40 |
Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.
61
|
Macchia PE...Refetoff S
|
8530628 |
1995 |
41 |
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism.
61
|
Tojo K...Sakai O
|
7647413 |
1995 |
42 |
Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family.
61
|
Miura Y...Seo H
|
8077354 |
1994 |
43 |
Heterogeneity in affinities of serum proteins for thyroxine among patients with non-thyroidal illness as indicated by the serum free thyroxine response to serum dilution.
61
|
Wilcox RB...Tomei RT
|
8038911 |
1994 |
44 |
Familial dysalbuminaemic hyperthyroxinaemia and inherited partial TBG deficiency: first report.
61
|
Langsteger W...Eber O
|
8033365 |
1994 |
45 |
A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: a possible mechanism of complete thyroxine-binding globulin deficiency in Japanese.
61
|
Miura Y...Seo H
|
8106612 |
1994 |
46 |
Thyroxine-binding globulin deficiency detected by newborn screening.
61
|
Mandel S...LaFranchi S
|
8429435 |
1993 |
47 |
Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ).
61
|
Miura Y...Seo H
|
7951486 |
1993 |
48 |
Partial deficiency of thyroxine-binding globulin: an HLA study.
61
|
Hnikova O...Zikmund J
|
8112720 |
1993 |
49 |
Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
61
|
Shirotani T...Shichiri M
|
1294376 |
1992 |
50 |
[A case of chronic thyroiditis with transient painful thyroiditis occurring after the administration of lipiodol].
61
|
Ishizuki Y...Tanigawa S
|
1333996 |
1992 |