(Q34010175)

30 July 2017

1 reference

title

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion (English)

1 reference

30 July 2017

Sutton VR

1

1 reference

30 July 2017

Shaffer LG

series ordinal

2

1 reference

30 July 2017

publication date

1 August 2000

1 reference

American Journal of Medical Genetics Part A

30 July 2017

published in

1 reference

30 July 2017

volume

93

1 reference

30 July 2017

issue

5

1 reference

30 July 2017

page(s)

381-387

1 reference

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Paternal uniparental disomy for chromosome 14: a case report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental disomy for chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Distinct phenotype in maternal uniparental disomy of chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Towards a molecular understanding of Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Delineation of 14q32.3 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Terminal deletion (14)(q32.3): a new case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental disomy for chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Molecular analysis redefines three human chromosome 14 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Retinal/macular pigmentation in conjunction with ring 14 chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Distal monosomy 14 not associated with ring formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Chromosome 14-terminal deletion and cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Maternal uniparental isodisomy for chromosome 14 detected prenatally

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Another case of maternal uniparental disomy chromosome 14 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000828%2993%3A5%3C381%3A%3AAID-AJMG7%3E3.0.CO%3B2-9

10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference