(Q33594945)

28 July 2017

1 reference

title

Imprinting in Albright's hereditary osteodystrophy (English)

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Albright's hereditary osteodystrophy

28 July 2017

main subject

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Davies SJ

1

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28 July 2017

Hughes HE

series ordinal

2

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28 July 2017

language of work or name

English

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publication date

1 February 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

2

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28 July 2017

page(s)

101-103

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Pseudohypoparathyroid tetany

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Albright's herediatary osteodystrophy (without hypocalcemia). (Brachymetacarpal dwarfism without tetany, or pseudo-pseudohypoparathyroidism). Report of a case and review of the literature.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Neurological, electroencephalographic, and heredo-familial aspects of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. J.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism with hypothyroidism. A case report and review of literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudo-pseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism: inheritance and expression of deficient receptor-cyclase coupling protein activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Albright's hereditary osteodystrophy: a review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Father to Son Transmission of Decreased NsActivity in Pseudohypoparathyroidism Type la*

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Dental manifestations of pseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Effects of dibutyryl cyclic adenosine 3',5'-monophosphate and parathyroid extract on calcium and phosphorus metabolism in hypoparathyroidism and pseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Isolation and characterization of the human Gs alpha gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodyst

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Genomic imprinting: review and relevance to human diseases.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Parental imprinting of the mouse insulin-like growth factor II gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Letter: Pseudohypoparathyroidism. Biting insect summary

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism. Variable manifestations within a family

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism and Idiopathic Hypoparathyroidism: Relationship between Serum Calcium and Parathyroid Hormone Levels and Urinary Cyclic Adenosine-3′,5′- Monophosphate Response to Parathyroid Extract*

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism: report on a family with four affected sisters

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Partial gonadotrophin-resistance in pseudohypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Pseudohypoparathyroidism (infant) and pseudopseudohypoparathyroidism (mother)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016262

Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations

30 October 2018

1 reference

12 December 2020

Coexistent pseudohypoparathyroidism and D brachydactyly in a family

1 reference

12 December 2020

Pseudo-pseudohypoparathyroidism: three cases in one family

1 reference

12 December 2020

Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son

1 reference

12 December 2020

Impairment of Olfaction and of the Tastes of Sour and Bitter in Pseudohypoparathyroidism

1 reference

12 December 2020

Pseudo-pseudohypoparathyroidism: report of three cases in one family

1 reference

12 December 2020

Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein

1 reference

12 December 2020

PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY

1 reference

12 December 2020

Autosomal dominant inheritance in Albright's hereditary osteodystrophy

1 reference

12 December 2020

Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin

1 reference

12 December 2020

Pseudo-pseudo-hypoparathyroidism in a child

1 reference

12 December 2020

Pseudohypoparathyroidism

1 reference

12 December 2020

Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism

1 reference

12 December 2020

Pseudohypoparathyroidism. A disease of the second messenger (3',5'-cyclic AMP)

1 reference

12 December 2020

Pseudohypoparathyroidism; clinical picture and relation to convulsive seizures

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.2.101

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28 July 2017

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28 July 2017

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