American Journal of Medical Genetics

We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from animal studies demonstrates autosomal recessive inheritance and provides a possible molecular basis for congenital vocal cord paralysis. © 1996 Wiley-Liss, Inc.

Robert Koppel

Sharon Friedman

Shari Fallet

Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

先天性声带麻痹可能为常染色体隐性遗传：病例报告及文献综述

J Powell

S Curran

B Neal

K Dworzynski

P Bolton

A positive haplotype association of the chromosome 15 gamma-amino butyric acid beta 3 subunit gene (GABRB3) with autism spectrum disorder

染色体15伽马氨基丁酸B3亚单位基因(GABRB3)的正向单体型与自闭症谱系障碍的关联

Judith Simone Nijmeijer

P. J. Hoekstra

C. A. Hartman

J. K. Buitelaar

R. B. Minderaa

Social dysfunctioning in ADHD: A review

注意缺陷多动障碍中的社会功能障碍：综述

Cancer cachexia is a polygenic and complex syndrome. Genetic variations in regulation of the inflammatory response, muscle and fat metabolic pathways, and pathways in appetite regulation are likely to contribute to the susceptibility or resistance to developing cancer cachexia. A systematic search of Medline and EmBase databases, covering 1986–2008 was performed for potential candidate genes/genetic polymorphisms relating to cancer cachexia. Related genes were then identified using pathway functional analysis software. All candidate genes were reviewed for functional polymorphisms or clinically significant polymorphisms associated with cachexia using the OMIM and GeneRIF databases. Genes with variants which had functional or clinical associations with cachexia and replicated in at least one study were entered into pathway analysis software to reveal possible network associations between genes. A total of 184 polymorphisms with functional or clinical relevance to cancer cachexia were identified in 92 candidate genes. Of these, 42 polymorphisms (in 33 genes) were replicated in more than one study with 13 polymorphisms found to influence two or more hallmarks of cachexia (i.e. inflammation, loss of fat mass and/or lean mass and reduced survival). Thirty-three genes were found to be significantly interconnected in two major networks with four genes (ADIPOQ, IL6, NFKB1 and TLR4) interlinking both networks. Selection of candidate genes and polymorphisms is a key element of multigene study design. The present study provides an initial framework to select genes/ polymorphisms for further study in cancer cachexia, and to develop their potential as susceptibility biomarkers of developing cachexia.

Benjamin H L Tan

James A Ross

Stein Kaasa

Frank Skorpen

Kenneth C H Fearon

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

癌症恶病质相关可能遗传多态性的鉴定：一项系统综述

染色体15伽马氨基丁酸β3亚单位基因(GABRB3)的正向单体型与自闭症谱系障碍的关联

Publication Information	Publisher: Wiley-Liss Inc.，Publishing cycle: ，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1977，Proportion of original research papers: ，Self Citation Rate:， Gold OA Rate:

American Journal of Medical Genetics

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Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

A positive haplotype association of the chromosome 15 gamma-amino butyric acid beta 3 subunit gene (GABRB3) with autism spectrum disorder

Social dysfunctioning in ADHD: A review

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

A positive haplotype association of the chromosome 15 gamma-amino butyric acid beta 3 subunit gene (GABRB3) with autism spectrum disorder

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review