A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Lorenzo D. Botto, Kristin M. May, Paul M. Fernhoff, +9

PEDIATRICS

Semaphorin 7A promotes axon outgrowth through integrins and MAPKs

R. Jeroen Pasterkamp, Jacques J. Peschon, Melanie K. Spriggs, +1

Nature

Developmental BiologySignal TransductionMolecular PhysiologySignaling PathwayCell-matrix Interaction +6

A common molecular basis for rearrangement disorders on chromosome 22q11

Lisa Edelmann

Human Molecular Genetics

CytogeneticsGeneticsGenetic EpidemiologyMolecular BiologyPathology +14

Modulation of aqueous humor outflow facility by the Rho kinase-specific inhibitor Y-27632.

Rao Pv, Deng Pf, Janardan Kumar, +1

PubMed

Effects of rho-associated protein kinase inhibitor Y-27632 on intraocular pressure and outflow facility.

Megumi Honjo, Hidenobu Tanihara, Masaru Inatani, +3

PubMed

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn, +14

The American Journal of Human Genetics

CytogeneticsGenetic DisorderGeneticsMolecular AnalysisPathology +6

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Twila M. Yobb, Martin J. Somerville, Lionel Willatt, +16

The American Journal of Human Genetics

Highly Variable SyndromeMedicineGeneticsGenetic DisorderPathology +4

Clinical variability of the 22q11.2 duplication syndrome

Christian Wentzel, Maria Fernström, Ylva Öhrner, +2

European Journal of Medical Genetics

Genetic DisorderGeneticsDuplication SyndromePathologyMedicine +1

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, +12

Genetics in Medicine

Requirement of ERK Activation for Visual Cortical Plasticity

Graziella Di Cristo, Nicoletta Berardi, Laura Cancedda, +4

Science

Synaptic TransmissionNeurotransmissionOptogeneticsSocial SciencesErk Activation +15