Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

α7-Nicotinic Acetylcholine Receptors: An Old Actor for New Different Roles

(2013) Patrizia Russo et al.   CURRENT DRUG TARGETS

Functional α7 Nicotinic ACh Receptors on Astrocytes in Rat Hippocampal CA1 Slices

(2012) Jian-xin Shen et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

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Functional Enrichment Analysis with Structural Variants: Pitfalls and Strategies

(2011) C. Webber   CYTOGENETIC AND GENOME RESEARCH

Specific Functions for ERK/MAPK Signaling during PNS Development

(2011) Jason M. Newbern et al.   NEURON

Acetylcholine-Synthesizing T Cells Relay Neural Signals in a Vagus Nerve Circuit

(2011) M. Rosas-Ballina et al.   SCIENCE

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

(2010) Volker Endris et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Knockdown of Zebrafish Lumican Gene (zlum) Causes Scleral Thinning and Increased Size of Scleral Coats

(2010) Lung-Kun Yeh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nicotinic acetylcholine receptor-mediated calcium signaling in the nervous system

(2009) Jian-xin Shen et al.   ACTA PHARMACOLOGICA SINICA

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

(2009) Maria M. van Genderen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Increase of NADPH-diaphorase Expression in Hypothalamus of Stat4 Knockout Mice

(2009) Mee Sook Hong et al.   KOREAN JOURNAL OF PHYSIOLOGY & PHARMACOLOGY

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way

(2009) John C Mulley et al.   Genome Medicine

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Protein–DNA array-based identification of transcription factor activities differentially regulated in skeletal muscle of normal and dystrophin-deficient mdx mice

(2008) Charu Dogra et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS