|1|Novel Mutation p.A64D in the Serpina7 Gene as a Cause of Partial Thyroxine-binding Globulin Deficiency Associated with Increases Affinity in Transthyretin by a Known p.A109T Mutation in the TTR Gene. (24356794)
Sklate R.T.... Rivolta C.M.
|2|A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency. (19415532)
Domingues R.... Bugalho M.J.
|3|C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. (16735497)
Moeller L.C.... Janssen O.E.
|4|Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. (12641622)
Su C.C.... Jap T.S.
|5|Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. (14974930)
Narendran P.... Refetoff S.
|6|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. (11889160)
Reutrakul S.... Refetoff S.
|7|Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. (11916615)
Domingues R.... Sobrinho L.
|8|A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. (11061524)
Miura Y.... Phillip M.
|9|Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. (10429016)
Carrel A.L.... Allen D.B.
|10|Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). (9768672)
Carvalho G.A.... Refetoff S.
|11|Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. (7647413)
Tojo K.... Sakai O.
|12|High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. (7635701)
Hershkovitz E.... Phillip M.
|13|A case of familial thyroxine binding globulin excess associated with growth hormone deficiency. (7942005)
Nakai A.... Sudo M.
|14|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. (8106612)
Miura Y.... Seo H.
|15|Thyroxine-binding globulin deficiency detected by newborn screening. (8429435)
Mandel S.... LaFranchi S.
|16|Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause. (7951522)
Yamamori I.... Seo H.
|17|Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). (7951486)
Miura Y.... Seo H.
|18|Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis. (8495048)
Noguchi T.... Kumahara Y.
|19|Thyroxine-binding globulin deficiency misdiagnosed as hypothyroidism. (8345439)
Arisaka O.... Yabuta K.
|20|Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. (1906892)
Yamamori I.... Oiso Y.
|21|Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. (1943753)
Li P.... Refetoff S.
|22|Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. (2155256)
Mori Y.... Refetoff S.
|23|Thyroxine-binding globulin deficiency re-examined. (3139334)
Copping S.... Byfield P.G.
|24|A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio. (3091890)
Kamikubo K.... Miura K.
|25|Primary thyroid failure with concomitant thyroxine binding globulin deficiency. (3921099)
Wakefield I.R.... Hayter C.J.
|26|Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
Sarne D.... Refetoff S.
|27|Thyroid function in goitrous subjects with thyroxine binding globulin deficiency. (6405573)
Callan F.P.... McKenna T.J.
|28|Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
Shita A.... Gillerot Y.
|29|Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
Jacobsen B.B.... rensen S.S.
|30|Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
Smals A.G.... Kloppenborg P.W.
|31|A case of isolated growth hormone deficiency associated with familial thyroxine binding globulin deficiency. (6788542)
Kawana M.... Shizume K.
|32|Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
|33|Thyroxine binding globulin deficiency which mimics neonatal hypothyroidism. (418318)
Lee T.... Wellby M.L.
|34|Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia. (192498)
Lamberts S.W.... Hulsmans H.A.
|35|Growth retardation and familial thyroxine-binding globulin deficiency. (71932)
Barragry J.M.... Burr W.A.
|36|Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familial thyroxine-binding globulin deficiency. (72658)
|37|Increased free thyroxine in a euthyroid patient with thyroxine-binding globulin deficiency. (816806)
Premachandra B.N.... Perlstein I.B.
|38|Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency. (828576)
|39|Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. (56342)
Refetoff S.... Robin N.I.
|40|Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
Hansen E.... Siersbaek-Nielsen K.
|41|Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. (805043)
Niimi H.... Sasaki N.
|42|Study of a kindred with thyroxine-binding globulin deficiency and oligomenorrhea. (805542)
Wallace E.Z.... Veleanu M.
|43|Familial thyroxine-binding globulin deficiency. A study of three Danish families. (4206122)
|44|Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci. (4197606)
Bode H.H.... Danon M.
|45|Growth pattern in a boy with thyroxine-binding globulin deficiency. (4623427)
Raiti S.... Newns G.H.
|46|Growth retardation and thyroxine-binding globulin deficiency. (4995345)
Penfold J.L.... Oldfield R.K.
|47|Familial thyroxine-binding globulin deficiency. (4987801)
Torkington P.... Burston D.
|48|Partial thyroxine-binding globulin deficiency in a family. (4981400)
Moloshok R.E.... Hirschhorn K.
|49|Familial thyroxine-binding globulin deficiency. (4966620)
Kraemer E.... Wiswell J.G.
|50|X-chromosome linked inheritance of thyroxine-binding globulin deficiency. (4965464)
Nikolai T.F.... SEAL U.S.