A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins

被引：0
|
作者：
Andrea Palermo
Ettore Capoluongo
Rossella Del Toro
Silvia Manfrini
Paolo Pozzilli
Daria Maggi
Giuseppe Defeudis
Francesco Pantano
Roberto Coppola
Francesco Maria Di Matteo
Marco Raffaelli
Paola Concolino
Alberto Falchetti
机构：
[1] Campus Bio-Medico University of Rome,Unit of Endocrinology and Diabetes, Department of Medicine
[2] Catholic University,Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry
[3] Sapienza University of Rome,Department of Experimental Medicine
[4] University Campus Bio Medico di Roma,Unit of Endocrinology and Diabetes, Department of Medicine
[5] Campus Bio-Medico University of Rome,Medical Oncology Department
[6] Campus Bio-Medico University of Rome,Department of General Surgery
[7] Campus Bio-Medico University of Rome,Digestive Endoscopy Unit
[8] Catholic University,Unit of Endocrine and Metabolic Surgery
[9] Florence and Villalba Hospital,EndOsmet Unit, Villa Donatello Private Hospital
来源：
Hormones | 2018年 / 17卷
关键词：
MEN1; gene; GEP-NETs; Genotype-phenotype correlations; MEN1 monozygotic twins;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：427 / 435
页数：8
相关论文
共 50 条
  • [31] Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families
    Sato, M
    Matsubara, S
    Miyauchi, A
    Ohye, H
    Imachi, H
    Murao, K
    Takahara, J
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (11) : 915 - 919
  • [32] Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
    Christoph Welsch
    Anna Katharina Flügel
    Susanne Rondot
    Egbert Schulze
    Ishani Sircar
    Judith Nußbaumer
    Jörg Bojunga
    BMC Endocrine Disorders, 22
  • [33] Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
    Griniatsos, John E.
    Dimitriou, Nikoletta
    Zilos, Athanassios
    Sakellariou, Stratigoula
    Evangelou, Konstantinos
    Kamakari, Smaragda
    Korkolopoulou, Penelope
    Kaltsas, Gregory
    WORLD JOURNAL OF SURGICAL ONCOLOGY, 2011, 9
  • [34] Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
    John E Griniatsos
    Nikoletta Dimitriou
    Athanassios Zilos
    Stratigoula Sakellariou
    Konstantinos Evangelou
    Smaragda Kamakari
    Penelope Korkolopoulou
    Gregory Kaltsas
    World Journal of Surgical Oncology, 9
  • [35] Multiple endocrine neoplasia type 1 (MEN1):: clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)
    Valdés, N
    de Nanclares, GP
    Alvarez, V
    Castaño, L
    Díaz-Cadórniga, F
    Aller, J
    Coto, E
    CLINICAL ENDOCRINOLOGY, 1999, 50 (03) : 309 - 313
  • [36] Novel MEN1 Gene Mutation in a Family with Multiple Endocrine Neoplasia Type 1.
    Cho, M.
    Park, J. S.
    Shim, W. H.
    Lee, E. H.
    Beom, S. H.
    Kim, S. A.
    Kim, E. S.
    Yoo, J. S.
    Nam, J. S.
    Ahn, C. W.
    Cha, B. S.
    Lee, E. J.
    Lim, S. K.
    Kim, K. R.
    Lee, H. C.
    ENDOCRINE REVIEWS, 2010, 31 (03)
  • [37] Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)
    Marx, SJ
    Agarwal, SK
    Kester, MB
    Heppner, C
    Kim, YS
    Emmert-Buck, MR
    Debelenko, LV
    Lubensky, IA
    Zhuang, Z
    Guru, SC
    Manickam, P
    Olufemi, SE
    Skarulis, MC
    Doppman, JL
    Alexander, RH
    Liotta, LA
    Collins, FS
    Chandrasekharappa, SC
    Spiegel, AM
    Burns, AL
    JOURNAL OF INTERNAL MEDICINE, 1998, 243 (06) : 447 - 453
  • [38] Chromogranin a expression in hepatocellular carcinoma in a patient with germline MEN1 gene mutation
    Nakajima, K
    Sakurai, A
    Katai, M
    Yajima, H
    Mori, J
    Katakura, M
    Tsuchiya, S
    Hashizume, K
    INTERNAL MEDICINE, 2000, 39 (01) : 20 - 24
  • [39] MEN1 gene mutation analysis of sporadic adrenocortical lesions
    Görtz, B
    Roth, J
    Speel, EJM
    Krähenmann, A
    De Kruger, RR
    Matias-Guiu, X
    Muletta-Feurer, S
    Rütmann, K
    Saremaslani, P
    Heitz, PU
    Komminoth, P
    INTERNATIONAL JOURNAL OF CANCER, 1999, 80 (03) : 373 - 379
  • [40] MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1
    Morelli, A
    Falchetti, A
    Martineti, V
    Becherini, L
    Mark, W
    Friedman, E
    Brandi, ML
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2000, 142 (02) : 131 - 137
12345