PMID- 10914990
OWN - NLM
STAT- MEDLINE
DCOM- 20001130
LR  - 20191025
IS  - 0753-3322 (Print)
IS  - 0753-3322 (Linking)
VI  - 54 Suppl 1
DP  - 2000 Jun
TI  - Gene diagnosis and clinical management of multiple endocrine neoplasia type 1 
      (MEN1).
PG  - 47s-51s
AB  - Identification of the MEN1 gene as a disease gene for multiple endocrine 
      neoplasia type 1 (MEN1) has made it possible to predict whether a family member 
      of an MEN1 patient will suffer from the same disease. MEN1 mutations have been 
      found in almost all cases with familial MEN 1, but in fewer cases with sporadic 
      MEN1. We analyzed MEN1 mutations in the largest number of Japanese MEN1 patients, 
      17 families and 21 sporadic cases, and found 54 MEN1 mutant carriers and 30 
      non-carriers. Furthermore, we identified a MEN1 phenocopy: GH-secreting pituitary 
      tumor and primary hyperparathyroidism, which develops at older ages. In this 
      article, we discuss how to utilize MEN1 gene diagnostics for the clinical 
      management of MEN 1 patients and MEN1 mutation carriers.
FAU - Hai, N
AU  - Hai N
AD  - Department of Laboratory Medicine, Kyoto University School of Medicine, Japan.
FAU - Kosugi, S
AU  - Kosugi S
LA  - eng
PT  - Journal Article
PT  - Review
PL  - France
TA  - Biomed Pharmacother
JT  - Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
JID - 8213295
SB  - IM
MH  - Humans
MH  - Multiple Endocrine Neoplasia/*diagnosis/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/genetics
RF  - 25
EDAT- 2000/07/29 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/07/29 11:00
PHST- 2000/07/29 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/07/29 11:00 [entrez]
AID - S0753-3322(00)80010-4 [pii]
AID - 10.1016/s0753-3322(00)80010-4 [doi]
PST - ppublish
SO  - Biomed Pharmacother. 2000 Jun;54 Suppl 1:47s-51s. doi: 
      10.1016/s0753-3322(00)80010-4.