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Clinical Diagnosis
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NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1
NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1,10.1002/ajmg.a.33525,American Journal of Medical Genetics
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NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1
(
Citations: 1
)
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Talia M. Muram-Zborovski
,
Cecily P. Vaughn
,
David H. Viskochil
,
Heather Hanson
,
Rong Mao
,
David A. Stevenson
Journal:
American Journal of Medical Genetics Part A - AM J MED GENET PART A
, vol. 152A, no. 8, pp. 1973-1978, 2010
DOI:
10.1002/ajmg.a.33525
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References
(17)
Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
(
Citations: 111
)
J. M. Friedman
,
Patricia H. Birch
Journal:
American Journal of Medical Genetics - AMER J MED GENET
, vol. 70, no. 2, pp. 138-143, 1997
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
(
Citations: 50
)
Conxi Lazaro
,
Anna Ravella
,
Antonia Gaona
,
Victor Volpini
,
Xavier Estivill
Journal:
New England Journal of Medicine - N ENGL J MED
, vol. 331, no. 21, pp. 1403-1407, 1994
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
(
Citations: 19
)
E Petek
Journal:
Journal of Medical Genetics - J MED GENET
, vol. 40, no. 7, pp. 520-525, 2003
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
(
Citations: 33
)
E Ars
,
H Kruyer
,
M Morell
,
E Pros
,
E Serra
,
A Ravella
,
X Estivill
,
C Lázaro
Journal:
Journal of Medical Genetics - J MED GENET
, vol. 40, no. 6, pp. e82-e82, 2003
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome
(
Citations: 10
)
L. Messiaen
,
S. Yao
,
H. Brems
,
T. Callens
,
A. Sathienkijkanchai
,
E. Denayer
,
E. Spencer
,
P. Arn
,
D. Babovic-Vuksanovic
,
C. Bay
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G. Bobele
,
B. H. Cohen
http://academic.research.microsoft.com/io.ashx?type=5&id=28600517&selfId1=0&selfId2=0&maxNumber=12&query=
Journal:
Jama-journal of The American Medical Association - JAMA-J AM MED ASSN
, vol. 302, no. 19, pp. 2111-2118, 2009
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Citations
(1)
The Neurofibromatoses: Differential Diagnosis and Rare Subtypes
Susan M. Huson