An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein

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An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1055/S-0029-1216358
P932PMC publication ID3124761
P698PubMed publication ID19391077
P5875ResearchGate publication ID24356492

P50authorVerónica MericqQ37369970
Sunita K AgarwalQ37625154
P2093author name stringC A Stratakis
A Horvath
R Salvatori
M Nesterova
E Bimpaki
M Lodish
N Patronas
L Drori-Herishanu
M Martari
Y Patronas
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New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus.Q51801174
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Menin, the product of the MEN1 gene, is a nuclear proteinQ24310070
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Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter studyQ30672269
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.Q34510622
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Cushing's disease in childhood as the first manifestation of multiple endocrine neoplasia syndrome type 1.Q35978510
Clinical and genetic features of familial pituitary adenomasQ36185290
Menin molecular interactions: insights into normal functions and tumorigenesis.Q36185305
Pituitary adenomas in childhood: development and diagnosisQ36909002
The clinical, pathological, and genetic features of familial isolated pituitary adenomasQ36950765
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumorsQ37058787
A case of macroprolactinoma and elevated insulin-like growth factor-I in a young boy.Q42489569
Pituitary adenomas in childhood and adolescence. Clinical analysis of 10 casesQ43550554
Pituitary adenomas in adolescent patients with multiple endocrine neoplasia type 1.Q44354633
P433issue8
P921main subjectprolactinomaQ954831
P304page(s)630-634
P577publication date2009-04-23
P1433published inHormone and Metabolic ResearchQ15758682
P1476titleAn Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein
P478volume41

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cites work (P2860)
Q36856421A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
Q37808142Care for patients with multiple endocrine neoplasia type 1: the current evidence base
Q43806776Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma.
Q38263242Genetic mutations in sporadic pituitary adenomas--what to screen for?
Q34167625Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how
Q90290355Giant Prolactinoma Causing Hydrocephalus and Intracranial Hypertension as First Manifestations of Multiple Endocrine Neoplasia Type 1
Q37630910Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors
Q28266645Novel MEN 1 gene findings in rare sporadic insulinoma--a case control study
Q34630270The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Q35895504Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.

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