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Albright's hereditary osteodystrophyThe GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneHand and foot abnormalities associated with genetic diseasesSinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidismCEREBRO-METACARPO-METATARSAL DYSTROPHY (PSEUDO-PSEUDO HYPOPARATHYROIDISM) WITH CHROMOSOMAL ANOMALYPseudopseudohypoparathyroidism and spinal cord compression.Imprinting in Albright's hereditary osteodystrophyParental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case.Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.Parental origin of transcription from the human GNAS1 gene.A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutationsMutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresisPseudohypoparathyroidism. Variable manifestations within a family.Biographical sketch: Fuller Albright, MD 1900-1969.A review of calcium and phosphorus metabolism. II. Hypocalcaemia.GNAS Spectrum of Disorders.Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsBrachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.Brachymetacarpal dwarfism or pseudo-pseudohypoparathyroidism with mental defect in siblings.Sclerochoroidal calcification associated with Albright's hereditary osteodystrophyPseudo-hypoparathyroidism; a description of three cases and a critical appraisal of earlier accounts of the diseaseCoexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual associationCalcification of the basal genglia apparently presenting as a schizophreniform psychosis.Mineralization of the central nervous system in pseudopseudohypoparathyroidism (PPH)Neurological, electroencephalographic, and heredo-familial aspects of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. J.SPINAL CORD COMPRESSION IN PSEUDOHYPOPARATHYROIDISMFamilial calcification of the basal ganglia with response to parathormone.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsGenetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionBariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report.PSEUDO-PSEUDO-HYPOPARATHYROIDISM WITH OSTEOMA CUTIS.A word for radical surgery.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.GNAS mutations and heterotopic ossification.Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
P2860
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P2860
description
1952 nî lūn-bûn
@nan
1952 թուականին հրատարակուած գիտական յօդուած
@hyw
1952 թվականին հրատարակված գիտական հոդված
@hy
1952年の論文
@ja
1952年論文
@yue
1952年論文
@zh-hant
1952年論文
@zh-hk
1952年論文
@zh-mo
1952年論文
@zh-tw
1952年论文
@wuu
name
Pseudo-pseudohypoparathyroidism
@ast
Pseudo-pseudohypoparathyroidism
@en
Pseudo-pseudohypoparathyroidism
@nl
type
label
Pseudo-pseudohypoparathyroidism
@ast
Pseudo-pseudohypoparathyroidism
@en
Pseudo-pseudohypoparathyroidism
@nl
prefLabel
Pseudo-pseudohypoparathyroidism
@ast
Pseudo-pseudohypoparathyroidism
@en
Pseudo-pseudohypoparathyroidism
@nl
P2093
P1476
Pseudo-pseudohypoparathyroidism
@en
P2093
A P FORBES
F ALBRIGHT
P H HENNEMAN
P304
P407
P577
1952-01-01T00:00:00Z