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Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mappingSinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidismNormal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosisRDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutationsAnalysis 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 andMethylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionA mouse model for osseous heteroplasiaAlbright hereditary osteodystrophy: a case report.Penetrance and expressivity in the molecular age.Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotypeImprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsBMP regulates regional gene expression in the dorsal otocyst through canonical and non-canonical intracellular pathwaysHuman imprinting syndromes.Radiographic assessment of congenital malformations of the upper extremity.No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
P2860
Q28291215-25A90EED-4C01-44A2-993F-9DE12B8EC7B3Q33162969-B445D286-BCA8-4988-A12D-75AD811562F5Q33678426-AE4E61A1-1086-4456-8E97-FC282D180726Q33678654-2DA61DF4-0CB8-408A-B7DA-7D4109DAA073Q33792419-4E4A2F0A-9BDB-4031-85BF-86A737564C5FQ33905114-D0DB4B25-8DE3-46F0-BB96-3A456D91A9BFQ34297140-73874AEB-EBF9-43C5-9189-F4A22980D107Q34532358-A72AFE32-6896-4724-94D6-CE63FD38831CQ34618531-2D3DF2D6-DAA5-4973-B99E-E5265FF36A63Q35539559-F6193C83-02FF-41F3-8B6B-C9F8979B8101Q35571081-D8614D0A-5E97-459F-BFBC-3E4096CB1C16Q35613804-0055E72A-B5B5-4552-83BB-6916A0B66D1FQ37036248-2281248A-5C21-4D08-9F74-BFA972D0CAFBQ37962006-B81F138F-8E63-4E4C-952A-7D813EB3D9C4Q38866172-D097A606-5468-4433-B79A-CC61A76BC087Q39660042-3C83DF80-5365-4E27-9671-CF1030C9FB1BQ51952508-0D1E1069-6C49-4DE2-AD17-7EC214888D9C
P2860
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Albright's hereditary osteodystrophy
@ast
Albright's hereditary osteodystrophy
@en
Albright's hereditary osteodystrophy
@en-gb
Albright's hereditary osteodystrophy
@nl
type
label
Albright's hereditary osteodystrophy
@ast
Albright's hereditary osteodystrophy
@en
Albright's hereditary osteodystrophy
@en-gb
Albright's hereditary osteodystrophy
@nl
prefLabel
Albright's hereditary osteodystrophy
@ast
Albright's hereditary osteodystrophy
@en
Albright's hereditary osteodystrophy
@en-gb
Albright's hereditary osteodystrophy
@nl
P2860
P356
P1476
Albright's hereditary osteodystrophy
@en
P2093
L C Wilson
P2860
P304
P356
10.1136/JMG.31.10.779
P407
P577
1994-10-01T00:00:00Z