Associated Papers
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Liao Y et al.
Cancer Medicine, 2019
31369215 (PubMed )
Supplement: CAM4-8-5673-s008.xlsx › Supplementary_Table_S5
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf
A mouse model for osseous heteroplasia.
Cheeseman MT et al.
Plos One, 2012
23284784 (PubMed )
Supplement: pone.0051835.s001.xlsx › _Table_S1_and_footnote
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Thiele S et al.
Human Mutation, 2011
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
Klagge A et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010
A pseudohypoparathyroidism type Ia patient with normocalcemia.
Tamada Y et al.
Endocrine Journal, 2008
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
Ishikawa Y et al.
Journal of Human Genetics, 2001
Activating and inactivating mutations in the human GNAS1 gene.
Aldred MA et al.
Human Mutation, 2000
GNAS1 mutational analysis in pseudohypoparathyroidism.
Ahmed SF et al.
Clinical Endocrinology, 1998
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.
Shapira H et al.
Human Genetics, 1996
Select a paper to view details