Literature DB >> 18821718

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.

Silvia Maitz1, Barbara Gentilin, Anna Maria Colli, Tommaso Rizzuti, Emilia Brandolisio, Annalisa Vetro, Orsetta Zuffardi, Silvana Guerneri, Faustina Lalatta.   

Abstract

Mesh：

Year:  2008        PMID： 18821718     DOI： 10.1002/pd.2110

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  2 in total

1.  Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.

Authors:  Jingjing Zhang; Dingyuan Ma; Yan Wang; Li Cao; Yun Wu; Fengchang Qiao; An Liu; Li Li; Ying Lin; Gang Liu; Cuiyun Liu; Ping Hu; Zhengfeng Xu
Journal:  Mol Cytogenet       Date:  2015-12-29       Impact factor: 2.009

2.  Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.

Authors:  Ying Hao; Yang Liu; Jingxin Yang; Xingping Li; Fuwei Luo; Qian Geng; Suli Li; Peining Li; Weiqing Wu; Jiansheng Xie
Journal:  Front Genet       Date:  2022-08-31       Impact factor: 4.772
  2 in total

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