Pseudohypoparathyroidism Type IA (PHP-Ia): Maternally Inherited GNAS Gene Mutation

2009 ◽  
Vol 22 (2) ◽  
Author(s):  
S. Semiz ◽  
F. Duzcan ◽  
M. Candemir ◽  
V. Caner ◽  
S. Thiele ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gnas Gene ◽  
Type Ia ◽  
Gnas Gene Mutation

scholarly journals Evolution of an Aggressive Prolactinoma into a Growth Hormone Secreting Pituitary Tumor Coincident with GNAS Gene Mutation

2010 ◽  
Vol 95 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Andrea G. Lania ◽  
Stefano Ferrero ◽  
Rosario Pivonello ◽  
Giovanna Mantovani ◽  
Erika Peverelli ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Gene Mutation ◽  
Pituitary Tumor ◽  
Gnas Gene ◽  
Gnas Gene Mutation

scholarly journals McCune-Albright Syndrome with Acromegaly and Fibrous Dysplasia Associated with the GNAS Gene Mutation Identified by Sensitive PNA-clamping Method

2007 ◽  
Vol 46 (18) ◽  
pp. 1577-1583 ◽  
Author(s):  
Mari Imanaka ◽  
Keiji Iida ◽  
Hitoshi Nishizawa ◽  
Hidenori Fukuoka ◽  
Ryoko Takeno ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Gene Mutation ◽  
Mccune Albright Syndrome ◽  
Gnas Gene ◽  
Albright Syndrome ◽  
Gnas Gene Mutation ◽  
Mccune Albright

scholarly journals Pseudohypoparathyroidism type 1a caused by a GNAS gene mutation: more than 40 years without a proper diagnosis

2021 ◽  
Author(s):  
Agnieszka Walczyk ◽  
Grzegorz Chmielewski ◽  
Kajetan Zgubieński ◽  
Kinga Hińcza-Nowak ◽  
Artur Kowalik ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gnas Gene ◽  
Proper Diagnosis ◽  
Gnas Gene Mutation

scholarly journals A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

1990 ◽  
Vol 87 (9) ◽  
pp. 3255-3258 ◽  
Author(s):  
L. B. Giebel ◽  
K. M. Strunk ◽  
R. A. King ◽  
J. M. Hanifin ◽  
R. A. Spritz
Keyword(s):  
Gene Mutation ◽  
Oculocutaneous Albinism ◽  
Negative Type ◽  
Tyrosinase Gene ◽  
Type Ia

Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs? gene mutation

1998 ◽  
Vol 77 (4) ◽  
pp. 261-267 ◽  
Author(s):  
Jon M. Nakamoto ◽  
Anna T. Sandstrom ◽  
Arnold S. Brickman ◽  
Robert A. Christenson ◽  
Cornelis Van Dop
Keyword(s):  
Gene Mutation ◽  
Paternal Transmission ◽  
Type Ia

scholarly journals Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

2017 ◽  
Vol 9 (1) ◽  
pp. 74-79
Author(s):  
Sezgin Şahin ◽  
Olaf Hiort ◽  
Susanne Thiele ◽  
Olcay Evliyaoğlu ◽  
Beyhan Tüysüz
Keyword(s):  
Heterozygous Mutation ◽  
Gnas Gene ◽  
Type Ia

FAS Gene Mutation in a Case of Autoimmune Lymphoproliferative Syndrome Type IA With Accumulation of γδ+ T Cells

2003 ◽  
Vol 27 (4) ◽  
pp. 546-553 ◽  
Author(s):  
Anke van den Berg ◽  
Rienk Tamminga ◽  
Debora de Jong ◽  
Ewerton Maggio ◽  
Willem Kamps ◽  
...  
Keyword(s):  
T Cells ◽  
Gene Mutation ◽  
Γδ T Cells ◽  
Syndrome Type ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Type Ia ◽  
Lymphoproliferative Syndrome
Sign in / Sign up

Export Citation Format

Share Document