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17q11.2
A chromosome band present on 17q
National Institutes of Health
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Related topics
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28 relations
17q
ATAD5 wt Allele
CCL13 wt Allele
CCL14 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
The Wild-Type NF1 Gene: It's a Real Turnoff.
A. Escuder
Journal of pediatric ophthalmology and strabismus
2017
Corpus ID: 41310293
2017
2017
Acquired TET 2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T 2-ALL and AML-M 0
V. Manchev
,
Hind Bouzid
,
+9 authors
H. Raslova
2017
Corpus ID: 43762541
Familial platelet disorder with predisposition to acute myeloid leukaemia (FPD/AML) is characterized by germline RUNX1 mutations…
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2013
2013
Aneurysmal Rupture of the Internal Carotid Artery in a Presumed Neurofibromatosis Type I Patient
Joo-Young Na
,
Jong-Pil Park
,
Dal-Won Kim
,
Yujin Won
,
Hyoung-Joong Kim
2013
Corpus ID: 71313619
Carotid artery aneurysms are uncommon but have the potential of catastrophic clinical events. The aneurysms, as we know, lead to…
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2012
2012
Minimal Change Disease in a Patient with Neurofibromatosis Type I
Mei-Mei Cheng
,
Sheng-Tsung Chang
,
Ming-yan Jiang
,
Tsung-Lin Liu
,
Chia-Chun Wu
2012
Corpus ID: 27665226
Neurofibromatosis type I (NF-1), the most common neurocutaneous disorder, can be an inherent or spontaneous mutation of the NF-1…
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2010
2010
The p . A 897 KfsX 4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
M. D. Bortoli
,
G. Beffagna
,
+11 authors
A. Rampazzo
2010
Corpus ID: 19877925
Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy…
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2010
2010
Somatostatin-producing endocrine tumour of the duodenum associated with type 1 neurofibromatosis.
C. Pernet
,
N. Kluger
,
+4 authors
B. Guillot
Acta Dermato-Venereologica
2010
Corpus ID: 13540929
© 2010 The Authors. doi: 10.2340/00015555-0844 Journal Compilation © 2010 Acta Dermato-Venereologica. ISSN 0001-5555 Type 1…
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2008
2008
Estudio clínico y radiológico de pacientes con neurofibromatosis tipo 1, Pinar del Río, 2006
M. Castillo
,
A. L. Cruz
,
D. Otero
,
Mabel Reyes Llanes
2008
Corpus ID: 224589635
2008
2008
A case of neurofibromatosis with Chiari malformation type 1, syringobulbia and duplex system of the kidney
S. Amarasena
,
Ll Sudeva
,
Ajith Hettigama
,
P. Kolombage
2008
Corpus ID: 4005429
Sri Lanka Journal of Child Health , 2008; 37: 26-29 Key words: neurofibromatosis, Chiari malformation, Syringobulbia, duplex…
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2003
2003
Identification of Widely Applicable Tumor-Associated Antigens for Breast Cancer Immunotherapy
J. Bai
2003
Corpus ID: 70811395
Abstract : This study is the initial phase (the 1st year) of a feasibility study of a novel immunotherapeutic strategy for the…
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Review
2000
Review
2000
[Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells].
A. Sakai
Nihon rinsho. Japanese journal of clinical…
2000
Corpus ID: 39162149
Neurofibromatosis type 1(NF1), a pleiotrophic autosomal dominant disorder, was first described in 1882 by Friedrich Daniel von…
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