Contiguous mutation syndrome in the era of high-throughput sequencing

Autosomal recessive spastic tetraplegia caused byAP4M1andAP4B1gene mutation: Expansion of the facial and neuroimaging features

(2014) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

(2014) Hengameh Abdollahpour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Subcutaneous adipose tissue zinc-α2-glycoprotein is associated with adipose tissue and whole-body insulin sensitivity

(2014) Miroslav Balaz et al.   Obesity

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

(2013) Ivan Prokudin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

(2013) Xiao-Fei Kong et al.   PLoS One

Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

(2012) J. Huang et al.   BLOOD

Role of β-Adrenergic Receptors in the Oral Activity of Zinc-α2-Glycoprotein (ZAG)

(2012) Steven T. Russell et al.   ENDOCRINOLOGY

rs4215 SNP in zinc-α2-glycoprotein gene is associated with obesity in Chinese north Han population

(2012) Hui-Juan Zhu et al.   GENE

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Mutation of HERC2 causes developmental delay with Angelman-like features

(2012) Gaurav V Harlalka et al.   JOURNAL OF MEDICAL GENETICS

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Zinc-Alpha 2-Glycoprotein Gene Expression in Adipose Tissue Is Related with Insulin Resistance and Lipolytic Genes in Morbidly Obese Patients

(2012) Lourdes Garrido-Sánchez et al.   PLoS One

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

(2011) Lubov Blumkin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Transferability of Type 2 Diabetes Implicated Loci in Multi-Ethnic Cohorts from Southeast Asia

(2011) Xueling Sim et al.   PLoS Genetics

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The adipokine zinc-α2-glycoprotein (ZAG) is downregulated with fat mass expansion in obesity

(2009) T. Mracek et al.   CLINICAL ENDOCRINOLOGY

Lower Zinc-α2-Glycoprotein Production by Adipose Tissue and Liver in Obese Patients Unrelated to Insulin Resistance

(2009) David M. Selva et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Downregulation of zinc-α2-glycoprotein in adipose tissue and liver of obese ob/ob mice and by tumour necrosis factor-α in adipocytes

(2009) T Mracek et al.   JOURNAL OF ENDOCRINOLOGY