| 1 |
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
54
61
6
|
Thiele S...Hiort O
|
17299070 |
2007 |
| 2 |
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
54
6
61
|
Ahrens W...Kruse K
|
11600516 |
2001 |
| 3 |
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
6
61
54
|
Ishikawa Y...Fujieda K
|
11450852 |
2001 |
| 4 |
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.
54
6
61
|
Mantovani G...Spada A
|
11095461 |
2000 |
| 5 |
GNAS1 mutational analysis in pseudohypoparathyroidism.
61
6
54
|
Ahmed SF...Thakker RV
|
9876352 |
1998 |
| 6 |
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
6
61
|
Adegbite NS...Pignolo RJ
|
18553568 |
2008 |
| 7 |
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle.
61
6
|
Makita N...Iiri T
|
17962410 |
2007 |
| 8 |
GNAS locus and pseudohypoparathyroidism.
6
61
|
Bastepe M...Juppner H
|
15711092 |
2005 |
| 9 |
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.
61
6
|
Yu D...Weinstein LS
|
10487696 |
1999 |
| 10 |
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
61
6
|
Fischer JA...Born W
|
9506752 |
1998 |
| 11 |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
6
61
|
Warner DR...Weinstein LS
|
9328353 |
1997 |
| 12 |
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
61
6
|
Farfel Z...Bourne HR
|
8702665 |
1996 |
| 13 |
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.
6
61
|
Shapira H...Farfel Z
|
8557265 |
1996 |
| 14 |
Pseudohypoparathyroidism: report on a family with four affected sisters.
6
61
|
Kinard RE...Buckwalter JA
|
219790 |
1979 |
| 15 |
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.
20
61
|
Germain-Lee EL
|
16675931 |
2006 |
| 16 |
GNAS1 mutations and progressive osseous heteroplasia.
6
|
Ahmed SF...Bonthron DT
|
12024004 |
2002 |
| 17 |
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
6
|
Shore EM...Kaplan FS
|
11784876 |
2002 |
| 18 |
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.
6
|
Aldred MA...Trembath RC
|
11073544 |
2000 |
| 19 |
Conditional activation defect of a human Gsalpha mutant.
6
|
Iiri T...Bourne HR
|
9159128 |
1997 |
| 20 |
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.
6
|
Weinstein LS...Spiegel AM
|
1505964 |
1992 |
| 21 |
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
6
|
Weinstein LS...Spiegel AM
|
2122458 |
1990 |
| 22 |
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
6
|
Patten JL...Levine MA
|
2109828 |
1990 |
| 23 |
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
54
61
|
Klaassens M...Schrander-Stumpel CT
|
19863504 |
2010 |
| 24 |
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.
61
54
|
Thiele S...Hiort O
|
19658058 |
2010 |
| 25 |
Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.
54
61
|
Sun LH...Liu JM
|
19381884 |
2009 |
| 26 |
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
54
61
|
Graul-Neumann LM...Bartsch O
|
19530187 |
2009 |
| 27 |
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.
61
54
|
Semiz S...Hiort O
|
19449667 |
2009 |
| 28 |
New mutation type in pseudohypoparathyroidism type Ia.
61
54
|
Fernandez-Rebollo E...de Nanclares GP
|
18394017 |
2008 |
| 29 |
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy.
54
61
|
Lietman SA...Levine MA
|
18089698 |
2008 |
| 30 |
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
61
54
|
Mouallem M...Farfel Z
|
17803690 |
2008 |
| 31 |
[GNAS1 gene abnormality in pseudohypoparathyroidism I a].
61
54
|
Ozono K
|
17660618 |
2007 |
| 32 |
Pseudohypoparathyroidism type 1a with congenital hypothyroidism.
61
54
|
Pinsker JE...Fenton C
|
16995592 |
2006 |
| 33 |
Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism.
54
61
|
Wemeau JL...Vlaeminck-Guillem V
|
16789631 |
2006 |
| 34 |
Genetics of pseudohypoparathyroidism types Ia and Ic.
61
54
|
Aldred MA
|
16789628 |
2006 |
| 35 |
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.
61
54
|
Linglart A...Bastepe M
|
16484323 |
2006 |
| 36 |
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.
61
54
|
Garavelli L...Banchini G
|
16116826 |
2005 |
| 37 |
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
54
61
|
Riepe FG...Partsch CJ
|
15817905 |
2005 |
| 38 |
Minireview: GNAS: normal and abnormal functions.
54
61
|
Weinstein LS...Chen M
|
15331575 |
2004 |
| 39 |
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
54
61
|
Mantovani G...Spada A
|
15579796 |
2004 |
| 40 |
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
61
54
|
de Sanctis L...de Sanctis C
|
15070926 |
2004 |
| 41 |
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
61
54
|
Germain-Lee EL...Levine MA
|
12970262 |
2003 |
| 42 |
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.
54
61
|
Liu J...Weinstein LS
|
12970307 |
2003 |
| 43 |
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
54
61
|
De Sanctis L...Dianzani I
|
12621129 |
2003 |
| 44 |
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
54
61
|
Rickard SJ...Wilson LC
|
12624854 |
2003 |
| 45 |
The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3.
54
61
|
Jan De Beur SM...Levine MA
|
12619926 |
2003 |
| 46 |
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism.
61
54
|
de Sanctis C...de Sanctis L
|
12729407 |
2003 |
| 47 |
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
54
61
|
Freson K...Van Geet C
|
12374764 |
2002 |
| 48 |
Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a.
61
54
|
Lim SH...Loke KY
|
11926205 |
2002 |
| 49 |
[PTH/PTHrP receptor and pseudohypoparathyroidism].
54
61
|
Yamamoto M
|
11857923 |
2002 |
| 50 |
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
61
54
|
Linglart A...Kottler ML
|
11788646 |
2002 |
Rare renal diseases 
