Prader-Willi-like syndrome in a patient with an Xq23q25 duplication (Q38501415)

3 September 2017

Prader-Willi-like syndrome in a patient with an Xq23q25 duplication (English)

1 reference

Prader-Willi-like syndrome

3 September 2017

1 reference

based on heuristic

inferred from title

Prader-Willi syndrome due to point mutation

1 reference

Monaghan KG

1

1 reference

PubMed ID

9843044

3 September 2017

Van Dyke DL

series ordinal

2

1 reference

PubMed ID

9843044

3 September 2017

Feldman GL

series ordinal

3

1 reference

3 September 2017

1 November 1998

1 reference

American Journal of Medical Genetics Part A

3 September 2017

1 reference

3 September 2017

80

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3 September 2017

3

1 reference

3 September 2017

227-231

1 reference

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

3 September 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

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%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

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%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

De novo interstitial deletion q16.2q21 on chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Molecular cytogenetic identification of four X chromosome duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C227%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

10.1002/(SICI)1096-8628(19981116)80:3<227::AID-AJMG10>3.0.CO;2-Q

21 January 2018

Identifiers

DOI

1 reference

3 September 2017

1 reference

PubMed ID

9843044