Identification of a novel germline mutation of the MEN I – gene (r.400delu) in a 24 year old patient with multifocal pancreatic insulinomas, primary hyperparathyroidism and a microprolactinoma

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
C Fottner ◽  
T Minnemann ◽  
JJ Wenzel ◽  
H Rossmann ◽  
KJ Lackner ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Germline Mutation ◽  
Men I ◽  
I Gene

Sequence Analysis of the MEN I Gene in Two Patients With Multiple Cutaneous Lipomas and Endocrine Tumors

2000 ◽  
Vol 32 (02) ◽  
pp. 76-79 ◽  
Author(s):  
K.-M. Schulte ◽  
D. Simon ◽  
C. Dotzenrath ◽  
S. Scheuring ◽  
K. Köhrer ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Endocrine Tumors ◽  
Men I ◽  
I Gene

scholarly journals Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma

2014 ◽  
Vol 47 (3) ◽  
pp. 534-538 ◽  
Author(s):  
Hye Sook Kim ◽  
Soon Wook Lee ◽  
Yoon Ji Choi ◽  
Sang Won Shin ◽  
Yeul Hong Kim ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
B Cell ◽  
Germline Mutation ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Large B Cell Lymphoma ◽  
I Gene ◽  
Large B Cell

A case of apparently sporadic primary hyperparathyroidism carrying a germline mutation of CDC73 gene

2019 ◽  
Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Federica Saponaro ◽  
Elena Pardi ◽  
Chiara Banti ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Germline Mutation ◽  
Sporadic Primary Hyperparathyroidism

MEN I gene mutations in sporadic adrenal adenomas

1999 ◽  
Vol 105 (6) ◽  
pp. 603-610 ◽  
Author(s):  
K.-M. Schulte ◽  
M. Heinze ◽  
M. Mengel ◽  
D. Simon ◽  
S. Scheuring ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Men I ◽  
I Gene

scholarly journals Complete Sequencing and Messenger Ribonucleic Acid Expression Analysis of the MEN I Gene in Adrenal Cancer1

2000 ◽  
Vol 85 (1) ◽  
pp. 441-448
Author(s):  
Klaus-Martin Schulte ◽  
Martina Mengel ◽  
Matthias Heinze ◽  
Dietmar Simon ◽  
Sibylle Scheuring ◽  
...  
Keyword(s):  
Expression Analysis ◽  
Ribonucleic Acid ◽  
Messenger Ribonucleic Acid ◽  
Men I ◽  
Complete Sequencing ◽  
I Gene

A Novel Germline Mutation, IVS4+1G>A, of the POU1F1 Gene Underlying Combined Pituitary Hormone Deficiency

2007 ◽  
Vol 69 (1) ◽  
pp. 60-64 ◽  
Author(s):  
Thiti Snabboon ◽  
Wanee Plengpanich ◽  
Patinat Buranasupkajorn ◽  
Ratchada Khwanjaipanich ◽  
Padiporn Vasinanukorn ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
I Gene

A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature

2016 ◽  
Vol 29 (9) ◽  
Author(s):  
Monica Serrano-Gonzalez ◽  
Sophie Shay ◽  
Juliana Austin ◽  
Dennis R. Maceri ◽  
Pisit Pitukcheewanont
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Germline Mutation ◽  
Parathyroid Carcinoma ◽  
Adolescent Female ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
First Case

AbstractParathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline

MEN I gene mutations in sporadic adrenal adenomas

1999 ◽  
Vol 105 (6) ◽  
pp. 603-610 ◽  
Author(s):  
K.-M. Schulte ◽  
M. Heinze ◽  
D. Simon ◽  
S. Scheuring ◽  
K. K�hrer ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Men I ◽  
I Gene
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