(Q36846020)

16 August 2017

title

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation (English)

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16 August 2017

main subject

Prader–Willi syndrome

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Saitoh S

1

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16 August 2017

Buiting K

2

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16 August 2017

Cassidy SB

3

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16 August 2017

Conroy JM

4

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16 August 2017

Driscoll DJ

5

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16 August 2017

Gabriel JM

6

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16 August 2017

Gillessen-Kaesbach G

7

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16 August 2017

Glenn CC

8

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16 August 2017

Greenswag LR

9

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16 August 2017

Horsthemke B

10

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16 August 2017

Kondo I

11

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16 August 2017

Kuwajima K

12

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16 August 2017

Niikawa N

13

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16 August 2017

Rogan PK

14

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16 August 2017

Schwartz S

15

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16 August 2017

Seip J

16

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16 August 2017

Williams CA

17

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16 August 2017

Nicholls RD

18

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16 August 2017

publication date

1 January 1997

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American Journal of Medical Genetics Part A

16 August 2017

published in

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16 August 2017

volume

68

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16 August 2017

issue

2

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16 August 2017

page(s)

195-206

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Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

16 August 2017

cites work

1 reference

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

21 January 2018

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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

21 January 2018

1 reference

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21 January 2018

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Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Allele-specific replication timing of imprinted gene regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Molecular and clinical study of 61 Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C195%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19970120)68:2<195::AID-AJMG15>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference