The role of tissue-specific imprinting as a source of phenotypic heterogeneity in human disease. (Q34467097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

review article

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title

The role of tissue-specific imprinting as a source of phenotypic heterogeneity in human disease (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

main subject

phenotypic heterogeneity

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

Weinstein LS

series ordinal

1

1 reference

2 August 2017

language of work or name

English

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publication date

1 December 2001

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

published in

Biological Psychiatry

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5 December 2019

volume

50

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5 December 2019

issue

12

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5 December 2019

page(s)

927-931

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

5 December 2019

cites work

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Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.

7 January 2021

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Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain.

7 January 2021

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Parents do matter: genomic imprinting and parental sex effects in neurological disorders.

7 January 2021

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7 January 2021

Imprinting mechanisms.

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Imprinting of mouse Kvlqt1 is developmentally regulated.

7 January 2021

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Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

7 January 2021

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Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

7 January 2021

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Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

7 January 2021

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Mosaic and polymorphic imprinting of the WT1 gene in humans.

7 January 2021

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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

7 January 2021

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Genomic imprinting in the brain

7 January 2021

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Genomic imprinting and the differential roles of parental genomes in brain development.

7 January 2021

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Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

7 January 2021

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Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest.

7 January 2021

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

7 January 2021

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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

7 January 2021

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Regulation of maternal behavior and offspring growth by paternally expressed Peg3.

7 January 2021

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A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

7 January 2021

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Identification of a methylation imprint mark within the mouse Gnas locus

7 January 2021

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The impact of genomic imprinting for neurobehavioral and developmental disorders

7 January 2021

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Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

7 January 2021

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Genomic imprinting: parental influence on the genome

7 January 2021

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The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

7 January 2021

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The imprinting box of the Prader-Willi/Angelman syndrome domain

7 January 2021

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Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism

7 January 2021

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Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

7 January 2021

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The sins of the fathers and mothers: genomic imprinting in mammalian development.

7 January 2021

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Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

7 January 2021

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Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene

7 January 2021

1 reference

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10.1016/S0006-3223(01)01295-1

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11750888%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference