Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission-Reference-Cited by-同舟云学术

Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission

Published:2002-03-07 Issue:4 Volume:108 Page:319-321
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Iascone Maria R.,Vittorini Simona,Sacchelli Monica,Spadoni Isabella,Simi Paolo,Giusti Sandra

Publisher

Wiley

Subject

Genetics(clinical)

Reference6 articles.

1. 1996. Congenital heart disease. In: editors. Emery and Rimoin's principles and practice of medical genetics, vol. 1, 3rd ed. London: Churchill-Livingston. p 767-828.

2. Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

3. 1999. The genetic basis of conotruncal cardiac defects: the chromosome 22q11.2 deletion. In: editors. Heart development. London: Academic Press. p 463-478.

4. Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

5. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

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2. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome;Human Genetics;2019-01

3. The use of two different MLPA kits in 22q11.2 deletion syndrome;European Journal of Medical Genetics;2016-04

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