(Q38476363)

3 September 2017

title

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations (English)

1 reference

3 September 2017

Ravnan JB

1

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3 September 2017

Chen E

series ordinal

2

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3 September 2017

Golabi M

series ordinal

3

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3 September 2017

Lebo RV

series ordinal

4

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3 September 2017

publication date

1 December 1996

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American Journal of Medical Genetics Part A

3 September 2017

published in

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3 September 2017

volume

66

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3 September 2017

issue

3

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3 September 2017

page(s)

250-256

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Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

3 September 2017

cites work

1 reference

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Human cytogenetics. A current overview

21 January 2018

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Screening of microdeletions of chromosome 20 in patients with Alagille syndrome

21 January 2018

1 reference

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

21 January 2018

1 reference

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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

21 January 2018

1 reference

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Prenatal in situ hybridization test for deleted steroid sulfatase gene

21 January 2018

1 reference

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Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.

21 January 2018

1 reference

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Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

21 January 2018

1 reference

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Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

21 January 2018

1 reference

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Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

21 January 2018

1 reference

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Maternal uniparental disomy 22 has no impact on the phenotype

21 January 2018

1 reference

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Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome

21 January 2018

1 reference

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Deletions within chromosome 22q11 in familial congenital heart disease

21 January 2018

1 reference

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DiGeorge syndrome: part of CATCH 22.

21 January 2018

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Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

21 January 2018

1 reference

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Human haploinsufficiency — one for sorrow, two for joy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961218%2966%3A3%3C250%3A%3AAID-AJMG2%3E3.0.CO%3B2-T

10.1002/(SICI)1096-8628(19961218)66:3<250::AID-AJMG2>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

3 September 2017

1 reference