Volume 60, Issue 7

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July 2017

Thematic Issue: Frontiers in rare diseases

15 articles in this issue

The challenge and promise of rare disease diagnosis in China
Xin Ni
Tieliu Shi
Editorial 14 June 2017 Pages: 681 - 685
Towards efficiency in rare disease research: what is distinctive and important?
Jinmeng Jia
Tieliu Shi
Review 16 June 2017 Pages: 686 - 691
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome
Di Wu
Chunxiu Gong
Chang Su
Research Paper 14 June 2017 Pages: 692 - 699
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0–3)
Yi Wang
Chunxiu Gong
Miao Qin
Research Paper 14 June 2017 Pages: 700 - 706
Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations
Dayong Bai
Wei Shi
Li Li
Research Paper 14 June 2017 Pages: 707 - 713
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma
Siyu Cai
Xisi Wang
Xiaoxia Peng
Research Paper 14 June 2017 Pages: 714 - 720
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma
Libing Fu
Yaqiong Jin
Lejian He
Research Paper 16 June 2017 Pages: 721 - 728
Correlation between BRAF ^V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma
Jiangqiao Geng
Huanmin Wang
Xin Ni
Research Paper 15 June 2017 Pages: 729 - 738
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome
Zhan Qi
Ying Shen
Hui Wang
Research Paper 14 June 2017 Pages: 739 - 745
The clinical and genetic characteristics in children with mitochondrial disease in China
Fang Fang
Zhimei Liu
Ying Shen
Research Paper 16 June 2017 Pages: 746 - 757
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome
Caifeng Li
Junmei Zhang
Xiaohua Tan
Research Paper 16 June 2017 Pages: 758 - 762
Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex
Dayong Bai
Junyang Zhao
Xu Wang
Research Paper 14 June 2017 Pages: 763 - 771
Berry syndrome: a rare cardiac malformation with extra-cardiac findings
Jingya Li
Ya Yang
Fangyun Wang
Letter to the Editor 16 June 2017 Pages: 772 - 774
Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases
Zhe Xu
Ying Liu
Yi-Wei Tang
Letter to the Editor 14 June 2017 Pages: 775 - 777
Analysis of diagnosis and treatment of lipoblastomatosis
Zhiqiang Mo
Xianghui Xie
Xiaosong Li
Letter to the Editor 16 June 2017 Pages: 778 - 780

Volume 60, Issue 7

The challenge and promise of rare disease diagnosis in China

Towards efficiency in rare disease research: what is distinctive and important?

Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0–3)

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma

Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma

Correlation between BRAF ^V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

The clinical and genetic characteristics in children with mitochondrial disease in China

Gene mutations and clinical phenotypes in Chinese children with Blau syndrome

Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex

Berry syndrome: a rare cardiac malformation with extra-cardiac findings

Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases

Analysis of diagnosis and treatment of lipoblastomatosis

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