Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. (Q35643080)

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27 October 2019

title

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37 (English)

1 reference

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27 October 2019

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Wilson LC

1

1 reference

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27 October 2019

Leverton K

2

1 reference

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27 October 2019

Oude Luttikhuis ME

3

1 reference

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27 October 2019

Oley CA

4

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27 October 2019

Flint J

5

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27 October 2019

Wolstenholme J

6

1 reference

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27 October 2019

Duckett DP

7

1 reference

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27 October 2019

Barrow MA

8

1 reference

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27 October 2019

Leonard JV

9

1 reference

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27 October 2019

Read AP

10

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27 October 2019

language of work or name

English

0 references

publication date

1 February 1995

1 reference

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American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

56

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27 October 2019

issue

2

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27 October 2019

page(s)

400-407

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Pseudo-pseudohypoparathyroidism

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Complex recombination events at the hypermutable minisatellite CEB1 (D2S90).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

The 1993-94 Généthon human genetic linkage map

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

A case of deletion 2q35----qter and a peculiar phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Albright's hereditary osteodystrophy: a review

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

A highly sensitive adenylate cyclase assay

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Autopsy findings in a severely affected infant with a 2q terminal deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801124

A convenient method for measuring receptor-cyclase coupling activity in whole blood: application to Duchenne muscular dystrophy

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7847374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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27 October 2019

1 reference