Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.

No abstract is available for this paper.

• Publication year

  1995

• Venue

  American journal of medical genetics

• Publication date

  1995-07-31

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/AJMG.1320580102PMID 7573148
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Albright's hereditary osteodystrophy.

  1994cited by this paper
• A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.

  1994cited by this paper
• Small terminal deletions of the long arm of chromosome 2: two new cases.

  1994cited by this paper
• Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).

  1994cited by this paper
• Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.

  1994cited by this paper
• Deletion (2)(q37).

  1994cited by this paper
• Imprinting in Albright's hereditary osteodystrophy.

  1993cited by this paper
• Autopsy findings in a severely affected infant with a 2q terminal deletion.

  1993cited by this paper
• Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.

  1993cited by this paper
• A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.

  1992cited by this paper
• Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

  1992cited by this paper
• Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter

  1992cited by this paper
• Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.

  1992cited by this paper
• G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.

  1991cited by this paper
• Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization.

  1991cited by this paper
• Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.

  1990cited by this paper
• Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

  1990cited by this paper
• Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy.

  1990cited by this paper
• Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).

  1989cited by this paper
• Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.

  1988cited by this paper
• Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia.

  1984cited by this paper
• A case of deletion 2q35----qter and a peculiar phenotype.

  1984cited by this paper
• Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

  1983cited by this paper
• Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein.

  1983cited by this paper
• Albright's hereditary osteodystrophy: a review.

  1982cited by this paper
• Albright's hereditary osteodystrophy: a review.

  1982cited by this paper
• Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity.

  1981cited by this paper
• The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.

  1977cited by this paper
• PSEUDOHYPOPARATHYROIDISM ASSOCIATED WITH CRI DU CHAT SYNDROME

  1976cited by this paper
• Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder.

  1973cited by this paper
• Metacarpophalangeal length in the evaluation of skeletal malformation.

  1972cited by this paper
• Autosomal dominant inheritance in Albright's hereditary osteodystrophy.

  1971cited by this paper
• Cerebro-metacarpo-metatarsal Dystrophy (Pseudo-Pseudo Hypoparathyroidism) with Chromosomal Anomaly

  1965cited by this paper
• Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.

  1962cited by this paper
• Pseudo-pseudohypoparathyroidism.

  1952cited by this paper

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• Diseases resulting from defects in the G protein Gsα

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• A Heterozygous Splice‐Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals

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• Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause

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• The Genetics and Development of Scoliosis

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• Reorganization of inter‐chromosomal interactions in the 2q37‐deletion syndrome

  2018influential citation
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  2017cites this paper
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• 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

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  2014cites this paper
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  2013cites this paper
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  2011cites this paper
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  2009cites this paper
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  2009cites this paper
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  2008cites this paper
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  2008cites this paper
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  2007cites this paper
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  2007cites this paper
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  2006cites this paper
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  2005cites this paper
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  2005influential citation
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  2005cites this paper
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  2004cites this paper
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  2004cites this paper
• Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy‐like phenotype

  2004cites this paper
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  2004cites this paper
• 20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

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  1999cites this paper
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  1999cites this paper
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  1998cites this paper
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  1998cites this paper
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  1998cites this paper
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  1998cites this paper
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