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Scholar Results 1 - 10 of about 101 related to Brucker-Davis: Genetic and clinical features of 42 kindreds with resistance to thyroid hormone:.... (0.11 sec) 

Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: the National …

- annals.org
F Brucker-Davis, MC Skarulis, MB Grace, J … - Annals of internal medicine, 1995 - Am Coll Physicians
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Objective: To determine the genetic and clinical features of resistance to ...
Cited by 142 - Related articles - BL Direct - All 4 versions

The variable clinical phenotype in thyroid hormone resistance syndrome


P Beck-Peccoz, VKK Chatterjee - Thyroid, 1994 - liebertonline.com
Page 1. THYROID Volume 4, Number 2,1994 Mary Ann Liebert, Inc., Publishers The Variable
Clinical Phenotype in Thyroid Hormone Resistance Syndrome ...
Cited by 124 - Related articles - BL Direct - All 3 versions

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. …

- nih.gov [PDF] 
M Adams, C Matthews, TN Collingwood, Y … - Journal of Clinical Investigation, 1994 - pubmedcentral.nih.gov
Resistance to thyroid hormone (RTH), with elevated serum free thyroid hormones
and nonsuppressed thyrotropin lev- els, is either relatively asymptomatic,
suggesting a general- ized disorder (GRTH) or associated with thyrotoxic ...
Cited by 118 - Related articles - BL Direct - All 10 versions

The syndromes of resistance to thyroid hormone


S REFETOFF, ROYE WEISS, SJ USALA - Endocrine reviews, 1993 - Endocrine Soc
I. Introduction II. Classification of the Thyroid Hormone Resistance Syndromes
III. Incidence and Inheritance IV. Etiology V. Pathogenesis VI. Pathology VII.
Clinical Findings A. Features at presentation B. Findings on physical ...
Cited by 510 - Related articles - BL Direct - All 3 versions

Do clinical manifestations of resistance to thyroid hormone correlate with the functional …


Y Hayashi, RE Weiss, DH Sarne, PM Yen, T … - Journal of Clinical Endocrinology & Metabolism, 1995 - Endocrine Soc
Page 1. Journal of Clinical Endocrinology and Metabobsm Copyright 0 1995
by The Endocrine Society Vol. 80. No. 11 Printed rn USA ...
Cited by 75 - Related articles - All 4 versions

Five New Families with Resistance to Thyroid Hormone not Caused by Mutations in the …

- endojournals.org
J Pohlenz, RE Weiss, PE Macchia, S Pannain, … - Journal of Clinical Endocrinology & Metabolism, 1999 - Endocrine Soc
Of the 65 families with RTH studied in our laboratory, 59 had mutations in the
mutagenic region of the TRß gene that encompasses exons 7–10. Isolation of a
TRß PAC (P1 derived artificial chromosome) clone provided the intronic ...
Cited by 64 - Related articles - BL Direct - All 5 versions

Tight linkage between the syndrome of generalized thyroid hormone resistance and the …


SJ Usala, AE Bale, N Gesundheit, C … - Molecular Endocrinology, 1988 - Endocrine Soc
Multiple cDNAs belonging to the c-erbA gene family encode proteins that bind T 3
with high affinity. However, the biological functions of these multiple thyroid
hormone receptors have not yet been clarified. Generalized thyroid hormone ...
Cited by 106 - Related articles - All 3 versions

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the …


K Takeda, A Sakurai, LJ DeGroot, S Refetoff - Journal of Clinical Endocrinology & Metabolism, 1992 - Endocrine Soc
Page 1. 0021-972x/92/7401-0049$03.00/0 Journal of Clinical Endocrinology and Metabolism
Copyright 0 1992 by The Endocrine Society Vol. 74, No. 1 Printed in USA ...
Cited by 118 - Related articles - All 2 versions

Spectrum of transcriptional, dimerization, and dominant negative properties of twenty …


TN Collingwood, M Adams, Y Tone, VK … - Molecular Endocrinology, 1994 - Endocrine Soc
TN Collingwood*, M. Adams*, Y. Tone, and VKK Chatterjee ... Department of
Medicine University of Cambridge Level 5 Addenbrooke's Hospital Cambridge, CB2
2QQ, United Kingdom ... Resistance to thyroid hormone (RTH) is usually ...
Cited by 123 - Related articles - BL Direct - All 3 versions

Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high …


S REFETOFF, LT DEWIND, LJ DEGROOT - Journal of Clinical Endocrinology & Metabolism, 1967 - Endocrine Soc
The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled
epiphyses, goiter and abnormally high PBI in 2 of 6 children of a consanguineous
marriage is described. Mean PBI levels were 14 and 21 µg/100 ml; BEI 9 and ...
Cited by 238 - Related articles - All 2 versions


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