Neuropathology of brain and spinal malformations in a case of monosomy 1p36

Malformations of Cortical Development

(2012) Eleonora Aronica et al.   BRAIN PATHOLOGY

MRI abnormalities following febrile status epilepticus in children: The FEBSTAT study

(2012) S. Shinnar et al.   NEUROLOGY

Role of Phosphoinositide-Specific Phospholipase C η2 in Isolated and Syndromic Mental Retardation

(2011) Vincenza Rita Lo Vasco   EUROPEAN NEUROLOGY

Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization

(2011) Alexander R. Judkins et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Deletion of the Mouse Homolog of KCNAB2, a Gene Linked to Monosomy 1p36, Results in Associative Memory Impairments and Amygdala Hyperexcitability

(2011) J. J. Perkowski et al.   JOURNAL OF NEUROSCIENCE

Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia

(2011) Maria Descartes et al.   PEDIATRIC NEUROLOGY

CHD5, a Brain-Specific Paralog of Mi2 Chromatin Remodeling Enzymes, Regulates Expression of Neuronal Genes

(2011) Rebecca Casaday Potts et al.   PLoS One

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

(2010) Marzena Gajecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

(2010) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

(2010) Nadia Bahi-Buisson et al.   BRAIN

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

(2010) Yoshiaki Saito et al.   BRAIN & DEVELOPMENT

Neural tube defects and impaired neural progenitor cell proliferation in Gβ1-deficient mice

(2010) Hiroaki Okae et al.   DEVELOPMENTAL DYNAMICS

Essential Roles of Notch Signaling in Maintenance of Neural Stem Cells in Developing and Adult Brains

(2010) I. Imayoshi et al.   JOURNAL OF NEUROSCIENCE

Hippocampal abnormalities in malformations of cortical development: MRI study

(2010) G. Kuchukhidze et al.   NEUROLOGY

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

(2009) Carla S. D'Angelo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prevalence of Hippocampal Malrotation in a Population without Seizures: Fig 1.

(2009) R.P. Gamss et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Hippocampal abnormalities associated with various congenital malformations

(2009) Fuldem Y. Donmez et al.   CHILDS NERVOUS SYSTEM

Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function

(2009) Justin M. Allen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia

(2009) R. Garbelli et al.   NEUROLOGY

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

(2008) Shoji Saito et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

(2008) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

(2008) William B. Dobyns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DICAM, a novel dual immunoglobulin domain containing cell adhesion molecule interacts with αvβ3 integrin

(2008) Youn‐Kwan Jung et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings

(2008) Surasak Puvabanditsin et al.   JOURNAL OF CHILD NEUROLOGY

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

(2008) Renzo Guerrini et al.   TRENDS IN NEUROSCIENCES