Literature DB >> 16100728

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.

Paolo Versacci, M Cristina Digilio, Ursula Sauer, Bruno Dallapiccola, Bruno Marino.   

Abstract

Mesh：

Year:  2005        PMID： 16100728     DOI： 10.1002/ajmg.a.30916

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years.

Authors:  Weichun Wu; Kunjing Pang; Qiongwen Lin; Ani Zhang; Wugang Wang; Minghui Zhang; Jianrong Li; Hao Wang
Journal:  Int J Cardiovasc Imaging       Date:  2015-07-02       Impact factor: 2.357

2.  Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.

Authors:  Ibtessam R Hussein; Rima S Bader; Adeel G Chaudhary; Randa Bassiouni; Maha Alquaiti; Fai Ashgan; Hans-Juergen Schulten; Mohammad H Al Qahtani
Journal:  Pediatr Cardiol       Date:  2018-03-14       Impact factor: 1.655

3.  Aortic root dilation in patients with 22q11.2 deletion syndrome.

Authors:  Anitha S John; Donna M McDonald-McGinn; Elaine H Zackai; Elizabeth Goldmuntz
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

4.  Features of two cases with 18q deletion syndrome.

Authors:  Elif Özsu; Gül Yeşiltepe Mutlu; Ayşegül Bütel Yüksel; Şükrü Hatun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014

5.  Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.

Authors:  Wai-Kwan Siu; Ching-Wan Lam; Chloe Miu Mak; Elizabeth Tak-Kwong Lau; Mary Hoi-Yin Tang; Wing-Fai Tang; Rachel Sui-Man Poon-Mak; Chi-Chiu Lee; Se-Fong Hung; Patrick Wing-Leung Leung; Karen Ling Kwong; Eric Kin-Cheong Yau; Grace Sui-Fun Ng; Nai-Chung Fong; Kwok-Yin Chan
Journal:  Clin Transl Med       Date:  2016-05-16

6.  Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.

Authors:  Chung-Lin Lee; Chih-Kuang Chuang; Ru-Yi Tu; Huei-Ching Chiu; Yun-Ting Lo; Ya-Hui Chang; Yen-Jiun Chen; Chao-Ling Chou; Peih-Shan Wu; Chih-Ping Chen; Hsiang-Yu Lin; Shuan-Pei Lin
Journal:  Medicina (Kaunas)       Date:  2021-12-22       Impact factor: 2.430
  6 in total

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