Rupture of abdominal aortic aneurysm and renal failure in an adult patient with undiagnosed Neurofibromatosis type 1 (NF1)

被引：0
|
作者：
Tzetis, M. [1 ]
Koutsias, S. [2 ]
Mourmoura, E. [3 ]
Mitrakos, A. [1 ]
Fylaktou, I. [1 ]
Papathanasiou, I. [3 ]
Tsipi, M. [1 ]
Poulou, M. [1 ]
Kosma, K. [1 ]
Giannoukas, A. [2 ]
Tsezou, A. [4 ]
机构：
[1] Univ Athens, Dept Med Genet, Athens, Greece
[2] Univ Thessaly, Dept Vasc Surg, Fac Med, Larisa, Greece
[3] Univ Thessaly, Lab Cytogenet & Mol Genet, Fac Med, Larisa, Greece
[4] Univ Thessaly, Dept Biol, Fac Med, Larisa, Greece
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P09.32
引用
收藏
页码：967 / 968
页数：2
相关论文
共 50 条
  • [1] Endovascular Repair for Abdominal Aortic Aneurysm Rupture With Neurofibromatosis Type 1
    Nakai, Shingo
    Uchida, Tetsuro
    Kuroda, Yoshinori
    Yamashita, Atsushi
    Ohba, Eiichi
    Mizumoto, Masahiro
    Hayashi, Jun
    Kobayashi, Kimihiro
    Ochiai, Tomonori
    [J]. ANNALS OF VASCULAR SURGERY, 2022, 79 : 439.e1 - 439.e4
  • [2] A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma
    Seo, Yoorim
    Jeong, Yeonjeong
    Kim, Dong Yoon
    Choi, Kyueun
    Kim, Eun Sook
    Moon, Sung Dae
    Han, Je Ho
    [J]. KOREAN JOURNAL OF INTERNAL MEDICINE, 2018, 33 (01): : 214 - 217
  • [3] ADULT BRAINSTEM GLIOMAS IN NEUROFIBROMATOSIS TYPE 1 (NF1)
    Guillamo, J.
    Wang, A.
    Ducray, F.
    Barbarot, S.
    Chinot, O.
    Frappaz, D.
    Bauchet, L.
    Wolkenstein, P.
    Laigle-Donadey, F.
    [J]. NEURO-ONCOLOGY, 2019, 21 : 74 - 74
  • [4] Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)
    Buske, A
    Gewies, A
    Lehmann, R
    Rüther, K
    Algermissen, B
    Nürnberg, P
    Tinschert, S
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (04): : 328 - 330
  • [5] Seizures in neurofibromatosis - Type 1 (NF1)
    Kulkantrakorn, K
    Geller, TJ
    [J]. NEUROLOGY, 1997, 48 (03) : 6007 - 6007
  • [6] The role of NF1 pseudogenes in the development of neurofibromatosis type 1 (NF1)
    Luijten, M
    Bijleveld, EH
    Westerveld, A
    Hulsebos, TJM
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 146 - 146
  • [7] Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
    Denise Emmerich
    Tomasz Zemojtel
    Jochen Hecht
    Peter Krawitz
    Malte Spielmann
    Jirko Kühnisch
    Karolina Kobus
    Monika Osswald
    Verena Heinrich
    Peter Berlien
    Ute Müller
    Victor-F Mautner
    Katharina Wimmer
    Peter N Robinson
    Martin Vingron
    Sigrid Tinschert
    Stefan Mundlos
    Mateusz Kolanczyk
    [J]. European Journal of Human Genetics, 2015, 23 : 870 - 873
  • [8] Osteoporosis in neurofibromatosis type 1 (NF1).
    Poyhonen, M
    Heikkinen, J
    Väänänen, K
    Peltonen, J
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 124 - 124
  • [9] Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
    Emmerich, Denise
    Zemojtel, Tomasz
    Hecht, Jochen
    Krawitz, Peter
    Spielmann, Malte
    Kuehnisch, Jirko
    Kobus, Karolina
    Osswald, Monika
    Heinrich, Verena
    Berlien, Peter
    Mueller, Ute
    Mautner, Victor-F
    Wimmer, Katharina
    Robinson, Peter N.
    Vingron, Martin
    Tinschert, Sigrid
    Mundlos, Stefan
    Kolanczyk, Mateusz
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (06) : 870 - 873
  • [10] Spontaneous aortic rupture in a patient with neurofibromatosis type 1
    Park, Yang Jin
    Park, Keun Myoung
    Oh, Jiyoung
    Park, Hong Suk
    Kim, Jung-Sun
    Kim, Young-Wook
    [J]. JOURNAL OF THE KOREAN SURGICAL SOCIETY, 2012, 82 (04): : 261 - 265
12345