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Literature DB >> 12746416

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll.

Abstract

Entities: Disease Species

Mesh：

Year: 2003 PMID： 12746416 PMCID： PMC1735484 DOI： 10.1136/jmg.40.5.e62

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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14 in total

1. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

Authors: Anthony L Gotter; Manjunath A Nimmakayalu; G Reza Jalali; April M Hacker; Jacob Vorstman; Danielle Conforto Duffy; Livija Medne; Beverly S Emanuel
Journal: Genome Res Date: 2007-03-09 Impact factor: 9.043

2. Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula.

Authors: Danielle Mc Laughlin; Paula Murphy; Prem Puri
Journal: Pediatr Surg Int Date: 2014-02 Impact factor: 1.827

3. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Authors: Jeroen Knijnenburg; Yolande van Bever; Lorette O M Hulsman; Chantal A P van Kempen; Galhana M Bolman; Rosa Laura E van Loon; H Berna Beverloo; Laura J C M van Zutven
Journal: Eur J Hum Genet Date: 2012-03-07 Impact factor: 4.246

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

1. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

2. Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula.

3. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

4. Structural basis for the growth factor activity of human adenosine deaminase ADA2.

5. Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.

6. Coloboma and anorectal malformations: a rare association with important clinical implications.

7. Detailed analysis of 22q11.2 with a high density MLPA probe set.

Review 8. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

9. A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.

Review 10. Cytogenomic Aberrations in Congenital Cardiovascular Malformations.