Literature DB >> 7837255

Albright's hereditary osteodystrophy.

L C Wilson1, R C Trembath.   

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Year:  1994        PMID: 7837255      PMCID: PMC1050125          DOI: 10.1136/jmg.31.10.779

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  57 in total

1.  Pseudo-pseudohypoparathyroidism.

Authors:  F ALBRIGHT; A P FORBES; P H HENNEMAN
Journal:  Trans Assoc Am Physicians       Date:  1952

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

Authors:  C M Faull; R R Welbury; B Paul; P Kendall-Taylor
Journal:  Q J Med       Date:  1991-03

3.  Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism.

Authors:  Y Weisman; A Golander; Z Spirer; Z Farfel
Journal:  J Pediatr       Date:  1985-09       Impact factor: 4.406

4.  Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency.

Authors:  Z Farfel; E Friedman
Journal:  Ann Intern Med       Date:  1986-08       Impact factor: 25.391

5.  Coexistent pseudohypoparathyroidism and D brachydactyly in a family.

Authors:  N Graudal; N Milman; L S Nielsen; E Niebuhr; J Bonde
Journal:  Clin Genet       Date:  1986-12       Impact factor: 4.438

6.  Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.

Authors:  M A Levine; T S Jap; W Hung
Journal:  J Pediatr       Date:  1985-12       Impact factor: 4.406

7.  Chromosomal assignment of the murine Gi alpha and Gs alpha genes. Implications for the obese mouse.

Authors:  P L Ashley; J Ellison; K A Sullivan; H R Bourne; D R Cox
Journal:  J Biol Chem       Date:  1987-11-05       Impact factor: 5.157

8.  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 osteodystrophy in six kindreds.

Authors:  M A Levine; T S Jap; R S Mauseth; R W Downs; A M Spiegel
Journal:  J Clin Endocrinol Metab       Date:  1986-03       Impact factor: 5.958

9.  Olfactory dysfunction in humans with deficient guanine nucleotide-binding protein.

Authors:  R S Weinstock; H N Wright; A M Spiegel; M A Levine; A M Moses
Journal:  Nature       Date:  1986 Aug 14-20       Impact factor: 49.962

10.  Metabolic bone disease in pseudohypoparathyroidism: radiologic features.

Authors:  M I Burnstein; S R Kottamasu; J M Pettifor; E Sochett; B I Ellis; B Frame
Journal:  Radiology       Date:  1985-05       Impact factor: 11.105

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  16 in total

1.  RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

Authors:  M M Power; R S James; J C Barber; A M Fisher; P J Wood; B A Leatherdale; D E Flanagan; E Hatchwell
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Authors:  L C Wilson; M E Oude Luttikhuis; M Baraitser; H M Kingston; R C Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

3.  Albright hereditary osteodystrophy: a case report.

Authors:  Deepa Hugar; Sangameshwar Sajjanshetty; Santosh Hugar; Megha Kadani
Journal:  J Clin Diagn Res       Date:  2014-10-20

4.  Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells.

Authors:  Janet L Crane; Michael J Shamblott; Joyce Axelman; Stephanie Hsu; Michael A Levine; Emily L Germain-Lee
Journal:  Clin Transl Sci       Date:  2009-10       Impact factor: 4.689

5.  BMP regulates regional gene expression in the dorsal otocyst through canonical and non-canonical intracellular pathways.

Authors:  Sho Ohta; Baolin Wang; Suzanne L Mansour; Gary C Schoenwolf
Journal:  Development       Date:  2016-05-05       Impact factor: 6.868

6.  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.

Authors:  Sarah J Rickard; Louise C Wilson
Journal:  Am J Hum Genet       Date:  2003-03-06       Impact factor: 11.025

Review 7.  Radiographic assessment of congenital malformations of the upper extremity.

Authors:  Matthew J Winfeld; Hansel Otero
Journal:  Pediatr Radiol       Date:  2016-06-15

8.  Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.

Authors:  E K Bijlsma; C M Aalfs; S Sluitjer; M E Oude Luttikhuis; R C Trembath; J M Hoovers; R C Hennekam
Journal:  J Med Genet       Date:  1999-08       Impact factor: 6.318

9.  Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism.

Authors:  N Rahmat; P Venables
Journal:  BMJ Case Rep       Date:  2013-06-24

Review 10.  Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?

Authors:  Francesca Marta Elli; Giovanna Mantovani
Journal:  Endocrine       Date:  2020-11-11       Impact factor: 3.633

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