scholarly journals Sporadic Nonautoimmune Neonatal Hyperthyroidism Due to A623V Germline Mutation in the Thyrotropin Receptor Gene-Case Report

2010 ◽  
Vol 2 (4) ◽  
pp. 168-172 ◽  
Author(s):  
Zehra Aycan ◽  
Sebahat Yılmaz Ağladıoğlu ◽  
Serdar Ceylaner ◽  
Semra Çetinkaya ◽  
Veysel Nijat Baş ◽  
...  
Keyword(s):  
Case Report ◽  
Germline Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Neonatal Hyperthyroidism

scholarly journals Sporadic Congenital Hyperthyroidism due to a Germline Mutation in the Thyrotropin Receptor Gene (Leu 512 Gln) in a Japanese Patient

2006 ◽  
Vol 53 (6) ◽  
pp. 735-740 ◽  
Author(s):  
Eijun NISHIHARA ◽  
Shuji FUKATA ◽  
Akira HISHINUMA ◽  
Takumi KUDO ◽  
Hidemi OHYE ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Japanese Patient ◽  
Receptor Gene ◽  
Thyrotropin Receptor

scholarly journals Sporadic Congenital Hyperthyroidism due to a Spontaneous Germline Mutation in the Thyrotropin Receptor Gene*

1997 ◽  
Vol 82 (11) ◽  
pp. 3879-3884
Author(s):  
H.-P. Holzapfel ◽  
P. Wonerow ◽  
W. von Petrykowski ◽  
M. Henschen ◽  
W. A. Scherbaum ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene

2009 ◽  
Vol 70 (4) ◽  
pp. 623-628 ◽  
Author(s):  
Vichit Supornsilchai ◽  
Taninee Sahakitrungruang ◽  
Nattakarn Wongjitrat ◽  
Suttipong Wacharasindhu ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Receptor Gene ◽  
Clinical Spectrum ◽  
Thyrotropin Receptor

scholarly journals Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Stephanie A. Roberts ◽  
Jennifer E. Moon ◽  
Andrew Dauber ◽  
Jessica R. Smith
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Receptor Gene ◽  
De Novo Mutation ◽  
Thyrotropin Receptor ◽  
Peripheral Blood Leukocytes ◽  
Blood Leukocytes ◽  
Activating Mutation ◽  
Neonatal Hyperthyroidism ◽  
Exon 10

AbstractBackground:Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in theMethods:Genomic DNA from the patient’s and parents’ peripheral blood leukocytes was extracted. Exons 9 and 10 of theResults:Sequencing exon 10 of theConclusions:The p.Leu512Met mutation (c.1534C>A) of the

Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism

1997 ◽  
Vol 131 (6) ◽  
pp. 899-904 ◽  
Author(s):  
K.O. Schwab ◽  
M. Gerlich ◽  
M. Broecker ◽  
P. Söhlemann ◽  
M. Derwahl ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Constitutively Active

scholarly journals Congenital Neonatal Hyperthyroidism Caused by Germline Mutations in the TSH Receptor Gene

2008 ◽  
Vol 21 (5) ◽  
Author(s):  
J. Chester ◽  
D. Rotenstein ◽  
U. Ringkananont ◽  
G. Steuer ◽  
Β. Carlin ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Germline Mutations ◽  
Tsh Receptor ◽  
Neonatal Hyperthyroidism
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