Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Haploinsufficiency ofZNF238is associated with corpus callosum abnormalities in 1q44 deletions

(2013) Seth J. Perlman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

(2013) Sheena Chew et al.   BRAIN

Two specific populations of GABAergic neurons originating from the medial and the caudal ganglionic eminences aid in proper navigation of callosal axons

(2013) Mathieu Niquille et al.   Developmental Neurobiology

Neuropsychological Profile of Agenesis of the Corpus Callosum: A Systematic Review

(2013) Vanessa Siffredi et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

Integration of guidance cues: parallel signaling and crosstalk

(2013) Irina Dudanova et al.   TRENDS IN NEUROSCIENCES

Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age

(2013) D. Paladini et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

(2013) Samin A. Sajan et al.   PLoS Genetics

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

(2012) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

(2012) Dan Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPSM2mutations in Chudley-McCullough syndrome

(2012) Oscar Diaz-Horta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Gli3 Controls Corpus Callosum Formation by Positioning Midline Guideposts During Telencephalic Patterning

(2012) Dario Magnani et al.   CEREBRAL CORTEX

LRP2 Is an Auxiliary SHH Receptor Required to Condition the Forebrain Ventral Midline for Inductive Signals

(2012) Annabel Christ et al.   DEVELOPMENTAL CELL

Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype

(2012) Krinio Giannikou et al.   GENE

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum

(2012) M. Shekarabi et al.   JOURNAL OF NEUROSCIENCE

Human ROBO1 Regulates Interaural Interaction in Auditory Pathways

(2012) S. Lamminmaki et al.   JOURNAL OF NEUROSCIENCE

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Protooncogene Ski cooperates with the chromatin-remodeling factor Satb2 in specifying callosal neurons

(2012) C. Baranek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Hedgehog Signal Transduction Network

(2012) D. J. Robbins et al.   Science Signaling

Counseling in fetal medicine: agenesis of the corpus callosum

(2012) S. Santo et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Ciliogenic Transcription Factor RFX3 Regulates Early Midline Distribution of Guidepost Neurons Required for Corpus Callosum Development

(2012) Carine Benadiba et al.   PLoS Genetics

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

(2011) Edith Said et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

(2011) Nathan Osbun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

(2011) Amelia R. Mroch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Biometry of the Corpus Callosum in Children: MR Imaging Reference Data

(2011) C. Garel et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

(2011) Alexandros Sotiriadis et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing

(2011) L. Besse et al.   DEVELOPMENT

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

(2011) Jenny Zolotushko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation

(2011) Kouichi Itoh et al.   JOURNAL OF NEUROSCIENCE RESEARCH

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

(2011) Koko Ishizuka et al.   NATURE

A novel DCC mutation and genetic heterogeneity in congenital mirror movements

(2011) A. Djarmati-Westenberger et al.   NEUROLOGY

L1 cell adhesion molecule promotes resistance to alcohol-induced silencing of growth cone responses to guidance cues

(2011) B. Sepulveda et al.   NEUROSCIENCE

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

(2011) Saqib Mahmood et al.   Orphanet Journal of Rare Diseases

Lipid Modifications of Sonic Hedgehog Ligand Dictate Cellular Reception and Signal Response

(2011) Vandana K. Grover et al.   PLoS One

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Metopic craniosynostosis due to mutations in GLI3: A novel association

(2010) Donna M. McDonald-McGinn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

(2010) Isabel Filges 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

Identification of genomic loci contributing to agenesis of the corpus callosum

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuropathology of holoprosencephaly

(2010) Pascale Marcorelles et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Developmental Differences of the Major Forebrain Commissures in Lissencephalies

(2010) S. Kara et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The Subplate and Early Cortical Circuits

(2010) Patrick O. Kanold et al.   Annual Review of Neuroscience

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Agenesis of the corpus callosum in mosaic tetrasomy 8p

(2010) Brian T. Wilson et al.   CLINICAL DYSMORPHOLOGY

Mosaic “tetrasomy” 8p: case report and review of the literature

(2010) Jennifer Winters et al.   CLINICAL GENETICS

Neurological Involvement in the Smith-Lemli-Opitz Syndrome: Clinical and Neuropathological Findings

(2010) Carlos A. Garcia et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Smith-Lemli-Opitz Syndrome: Neuropathological and Ophthalmological Observations

(2010) Marcella Fierro et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Molecular regulation of the developing commissural plate

(2010) Randal X. Moldrich et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A molecular mechanism that regulates medially oriented axonal growth of upper layer neurons in the developing neocortex

(2010) Hong Zhao et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

(2010) Lynn K. Paul   Journal of Neurodevelopmental Disorders

The Development of the Corpus Callosum in the Healthy Human Brain

(2010) E. Luders et al.   JOURNAL OF NEUROSCIENCE

Diffusion Tensor Imaging of Aicardi Syndrome

(2010) Michael Wahl et al.   PEDIATRIC NEUROLOGY

Mutations in DCC Cause Congenital Mirror Movements

(2010) M. Srour et al.   SCIENCE

Development, specification, and diversity of callosal projection neurons

(2010) Ryann M. Fame et al.   TRENDS IN NEUROSCIENCES

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

(2009) Y. Nakata et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Disrupted in Schizophrenia 1 Regulates Neuronal Progenitor Proliferation via Modulation of GSK3β/β-Catenin Signaling

(2009) Yingwei Mao et al.   CELL

Neuropilin 1-Sema Signaling Regulates Crossing of Cingulate Pioneering Axons during Development of the Corpus Callosum

(2009) Michael Piper et al.   CEREBRAL CORTEX

Structural Basis for Self-Renewal of Neural Progenitors in Cortical Neurogenesis

(2009) G. Shioi et al.   CEREBRAL CORTEX

Intermediate Neuronal Progenitors (Basal Progenitors) Produce Pyramidal–Projection Neurons for All Layers of Cerebral Cortex

(2009) Tom Kowalczyk et al.   CEREBRAL CORTEX

Birth defects caused by mutations in humanGLI3and mouseGli3genes

(2009) Ichiro Naruse et al.   CONGENITAL ANOMALIES

Distinct roles of neuropilin 1 signaling for radial and tangential extension of callosal axons

(2009) Yumiko Hatanaka et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

(2009) C. Mignon-Ravix et al.   JOURNAL OF MEDICAL GENETICS

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

(2009) Y. J. Vos et al.   JOURNAL OF MEDICAL GENETICS

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

(2009) S C Sreenath Nagamani et al.   JOURNAL OF MEDICAL GENETICS

Novel Subtype-Specific Genes Identify Distinct Subpopulations of Callosal Projection Neurons

(2009) B. J. Molyneaux et al.   JOURNAL OF NEUROSCIENCE

Anatomical Characterization of Human Fetal Brain Development with Diffusion Tensor Magnetic Resonance Imaging

(2009) H. Huang et al.   JOURNAL OF NEUROSCIENCE

Molecular regulation of neuronal migration during neocortical development

(2009) Zhen Huang   MOLECULAR AND CELLULAR NEUROSCIENCE

Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors

(2009) Eve Seuntjens et al.   NATURE NEUROSCIENCE

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum

(2009) T. Ghi et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Transient Neuronal Populations Are Required to Guide Callosal Axons: A Role for Semaphorin 3C

(2009) Mathieu Niquille et al.   PLOS BIOLOGY

The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis

(2009) Stephen N. Sansom et al.   PLoS Genetics

Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

(2008) Chayim Can Schell-Apacik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Agenesis of the corpus callosum in California 1983-2003: A population-based study

(2008) Hannah C. Glass et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroimaging aspects of Aicardi syndrome

(2008) Bobbi Hopkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

(2008) P.H. Tang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Variability of Homotopic and Heterotopic Callosal Connectivity in Partial Agenesis of the Corpus Callosum: A 3T Diffusion Tensor Imaging and Q-Ball Tractography Study

(2008) M. Wahl et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG)

(2008) Rie Miyata et al.   BRAIN & DEVELOPMENT

Morphology of the corpus callosum at different stages of schizophrenia: Cross-sectional study in first-episode and chronic illness

(2008) Mark Walterfang et al.   BRITISH JOURNAL OF PSYCHIATRY

FGF8 signaling patterns the telencephalic midline by regulating putative key factors of midline development

(2008) Toshiaki Okada et al.   DEVELOPMENTAL BIOLOGY

Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex

(2008) G. Verstappen et al.   HUMAN MOLECULAR GENETICS

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION

Schizophrenia-Related Neural and Behavioral Phenotypes in Transgenic Mice Expressing Truncated Disc1

(2008) S. Shen et al.   JOURNAL OF NEUROSCIENCE

Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis

(2008) G. Friocourt et al.   JOURNAL OF NEUROSCIENCE

Satb2 Is a Postmitotic Determinant for Upper-Layer Neuron Specification in the Neocortex

(2008) Olga Britanova et al.   NEURON

Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

(2008) Elizabeth A. Alcamo et al.   NEURON

Tbr2 Directs Conversion of Radial Glia into Basal Precursors and Guides Neuronal Amplification by Indirect Neurogenesis in the Developing Neocortex

(2008) Alessandro Sessa et al.   NEURON

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

The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex

(2008) B. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

(2007) Monica Hayhurst et al.   Developmental Neurobiology

Spectrum of epilepsy in terminal 1p36 deletion syndrome

(2007) Nadia Bahi-Buisson et al.   EPILEPSIA