Pages that link to "Q43074115"
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The following pages link to Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome (Q43074115):
Displaying 15 items.
- Structural basis for the growth factor activity of human adenosine deaminase ADA2 (Q24298946) (← links)
- Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients (Q24532183) (← links)
- Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity (Q24536231) (← links)
- Detailed analysis of 22q11.2 with a high density MLPA probe set (Q24648626) (← links)
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations (Q26744182) (← links)
- A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies (Q33277820) (← links)
- Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements (Q33608641) (← links)
- A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family (Q36170474) (← links)
- An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature (Q38021444) (← links)
- 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring (Q41785812) (← links)
- A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma (Q41870227) (← links)
- Severe psychomotor delay in a severe presentation of cat-eye syndrome (Q43123196) (← links)
- Coloboma and anorectal malformations: a rare association with important clinical implications (Q45103631) (← links)
- Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula (Q50701627) (← links)
- FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22) (Q81498890) (← links)