scholarly journals Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

Brain ◽  
1998 ◽  
Vol 121 (8) ◽  
pp. 1451-1458 ◽  
Author(s):  
P. Lenssen
Keyword(s):  
Hereditary Neuropathy ◽  
Phenotypic Differences ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Pressure Palsies ◽  
The Common ◽  
Common Deletion

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 ◽  
Vol 6 (3) ◽  
pp. 263-266 ◽  
Author(s):  
Garth A. Nicholson ◽  
Linda J. Valentijn ◽  
Annia K. Cherryson ◽  
Marina L. Kennerson ◽  
Tara L. Bragg ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Pressure Palsies

Identification of a Novel Frame-Shift Mutation in PRSS1 Gene in Han Patients with Autoimmune Pancreatitis

2014 ◽  
Vol 14 (3) ◽  
pp. 340-348 ◽  
Author(s):  
F. Gao ◽  
Y. Li ◽  
C. Wang ◽  
Z. Zhuang ◽  
Q.C. Liu ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Frame Shift ◽  
Frame Shift Mutation

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

2003 ◽  
Vol 29 (2) ◽  
pp. 205-210 ◽  
Author(s):  
Jun Li ◽  
Karen Krajewski ◽  
Richard A. Lewis ◽  
Michael E. Shy
Keyword(s):  
Hereditary Neuropathy ◽  
Loss Of Function ◽  
Pressure Palsies

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

1998 ◽  
Vol 103 (5) ◽  
pp. 590-599 ◽  
Author(s):  
X. Meng ◽  
Xiaojun Lu ◽  
Zhizhong Li ◽  
Eric D. Green ◽  
Hillary Massa ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Physical Map ◽  
Novel Genes ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion ◽  
Identification And Characterization

scholarly journals Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion

2007 ◽  
Vol 3 (2) ◽  
pp. 208-212 ◽  
Author(s):  
Marc J. Grossman ◽  
Joseph Feinberg ◽  
Edward F. DiCarlo ◽  
Sherri B. Birchansky ◽  
Scott W. Wolfe
Keyword(s):  
Case Report ◽  
Hereditary Neuropathy ◽  
Pressure Palsies

Characterization of the D8 gene which locates to 3p21, the common deletion region in lung cancer

1992 ◽  
Vol 63 (2) ◽  
pp. 180
Author(s):  
Klaas Kok ◽  
Peter Terpstra ◽  
Anke van den Berg ◽  
Dorothy L. Buchhagen ◽  
Robert Hofstra ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion

scholarly journals Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies

2017 ◽  
Vol 7 (9) ◽  
pp. e00783 ◽  
Author(s):  
Minori Kodaira ◽  
Satoshi Kodama ◽  
Yui Kamijo ◽  
Tomoki Kaneko ◽  
Yoshiki Sekijima
Keyword(s):  
Hereditary Neuropathy ◽  
Brachial Plexopathy ◽  
Muscle Training ◽  
Pressure Palsies

Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies

2014 ◽  
Vol 37 (2) ◽  
pp. 106-111 ◽  
Author(s):  
Ayse O. Bayrak ◽  
Ilkay Koray Bayrak ◽  
Esra Battaloglu ◽  
Burcak Ozes ◽  
Onur Yildiz ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsies
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