Human genetics and molecular genomics of Chiari malformation type 1

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

(2023) Adam J. Kundishora et al.   NATURE MEDICINE

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

(2022) Andrew T. Timberlake et al.   HUMAN GENETICS

Genomic architecture of autism from comprehensive whole-genome sequence annotation

(2022) Brett Trost et al.   CELL

Spine Deformity Associated with Chiari I Malformation and Syringomyelia

(2022) Somnath Das et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Clinical Manifestations of Chiari I Malformation

(2022) Ziyad Makoshi et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Elucidating the Genetic Basis of Chiari I Malformation

(2022) Gabe Haller et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Chiari I Malformations and the Heritable Disorders of Connective Tissue

(2022) Meghan Ellington et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Imaging in Chiari I Malformation

(2022) Jonathan Pindrik et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

(2021) Aintzane Urbizu et al.   PLoS One

Posterior cranial fossa and cervical spine morphometric abnormalities in symptomatic Chiari type 0 and Chiari type 1 malformation patients with and without syringomyelia

(2021) Enver I. Bogdanov et al.   ACTA NEUROCHIRURGICA

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study

(2021) Dongfang Zou et al.   BRAIN

DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

(2021) Adam J. Kundishora et al.   JAMA Neurology

The management of Chiari malformation type 1 and syringomyelia in children: a review of the literature

(2021) Veronica Saletti et al.   NEUROLOGICAL SCIENCES

Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation

(2020) Brooke Sadler et al.   PEDIATRIC NEUROLOGY

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

(2020) Ziquan Li et al.   BMC MUSCULOSKELETAL DISORDERS

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

(2020) Sheng Chih Jin et al.   NATURE MEDICINE

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

(2020) Brooke Sadler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of somatic mosaicism in brain disease

(2020) Alexandre Jourdon et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

(2020) Aldesia Provenzano et al.   HUMAN GENETICS

Towards a neurobiological understanding of pain in neurofibromatosis type 1 (NF1)

(2019) Shreya S. Bellampalli et al.   PAIN

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

(2019) Vandana Shashi et al.   HUMAN MUTATION

Basilar invagination associated with chiari malformation type I: A literature review

(2019) José Nazareno Pearce de Oliveira Brito et al.   Clinics

Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing

(2019) Anthony M. Musolf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chiari type 1—a malformation or a syndrome? A critical review

(2019) Radek Frič et al.   ACTA NEUROCHIRURGICA

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels

(2018) Frédéric Ancot et al.   BMC GENETICS

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

(2018) Charuta Gavankar Furey et al.   NEURON

A Systematic Review of Cognition in Chiari I Malformation

(2018) Jeffrey M. Rogers et al.   NEUROPSYCHOLOGY REVIEW

Adult Chiari I Malformations: An Analysis of Surgical Risk Factors and Complications Using an International Database

(2018) Abhiraj D. Bhimani et al.   World Neurosurgery

Case Report of Worth Syndrome and Chiari I Malformation: Unusual Association and Surgical Treatment

(2018) Martin Andres Merenzon et al.   World Neurosurgery

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

(2018) Daniel Duran et al.   NEURON

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

(2018) Lot Snijders Blok et al.   Nature Communications

Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons

(2018) Qiong Xu et al.   Molecular Autism

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

(2017) Elisa Merello et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis

(2017) Saïd C. Azoury et al.   International Journal of Biological Sciences

Two distinct populations of Chiari I malformation based on presence or absence of posterior fossa crowdedness on magnetic resonance imaging

(2017) Davis G. Taylor et al.   JOURNAL OF NEUROSURGERY

Chiari Malformation Type 1: A Systematic Review of Natural History and Conservative Management

(2017) Benjamin Langridge et al.   World Neurosurgery

Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation

(2017) Manuel Solis-Moruno et al.   Scientific Reports

Posterior fossa decompression with and without duraplasty for the treatment of Chiari malformation type I—a systematic review and meta-analysis

(2016) Hao Xu et al.   NEUROSURGICAL REVIEW

The genetics of cerebellar malformations

(2016) Kimberly A. Aldinger et al.   Seminars in Fetal & Neonatal Medicine

Dogs attending primary-care practice in England with clinical signs suggestive of Chiari-like malformation/syringomyelia

(2016) S. Sanchis-Mora et al.   VETERINARY RECORD

Non-operative outcomes in Chiari I malformation patients

(2015) Amy Killeen et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Guideline for Care of Patients With the Diagnoses of Craniosynostosis

(2015) Irene M.J. Mathijssen   JOURNAL OF CRANIOFACIAL SURGERY

Involvement of phosphatase and tensin homolog deleted from chromosome 10 in rodent model of neuropathic pain

(2015) Shi-Ying Huang et al.   Journal of Neuroinflammation

Is atlantoaxial instability the cause of Chiari malformation? Outcome analysis of 65 patients treated by atlantoaxial fixation

(2015) Atul Goel   JOURNAL OF NEUROSURGERY-SPINE

Spinal Deformity Associated with Chiari Malformation

(2015) Michael P. Kelly et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Syrinx resolution is correlated with the upward shifting of cerebellar tonsil following posterior fossa decompression in pediatric patients with Chiari malformation type I

(2014) Dingding Xie et al.   EUROPEAN SPINE JOURNAL

Comparison of operative and non-operative outcomes based on surgical selection criteria for patients with Chiari I malformations

(2014) Alexis Chavez et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs

(2014) Philippe Lemay et al.   PLoS One

Evolution of early Homo: An integrated biological perspective

(2014) S. C. Anton et al.   SCIENCE

Cephalic Index in the First Three Years of Life: Study of Children with Normal Brain Development Based on Computed Tomography

(2014) Wirginia Likus et al.   TheScientificWorldJOURNAL

Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation

(2013) Christina A. Markunas et al.   ANNALS OF HUMAN GENETICS

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis

(2013) Kyungsoo Ha et al.   HUMAN MOLECULAR GENETICS

Chiari I malformation associated with atlanto-occipital assimilation presenting as orthopnea and cough syncope

(2013) Erwin Zeta Mangubat et al.   JOURNAL OF CLINICAL NEUROSCIENCE

FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

(2013) Chayanin Chokdeemboon et al.   JOURNAL OF CRANIOFACIAL SURGERY

Evolutionary hypothesis for Chiari type I malformation

(2013) Yvens Barbosa Fernandes et al.   MEDICAL HYPOTHESES

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes

(2013) Aintzane Urbizu et al.   PLoS One

Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

(2013) Christina A. Markunas et al.   PLoS One

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FGF/FGFR signaling in bone formation: Progress and perspectives

(2012) Pierre J. Marie et al.   GROWTH FACTORS

Defining the signs and symptoms of Chiari malformation type I with and without syringomyelia

(2012) Timothy M George et al.   NEUROLOGICAL RESEARCH

Molecular Genetic Analysis of TWIST1 and FGFR3 Genes in Korean Patients with Coronal Synostosis

(2012) Jung Min Ko et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Chiari malformation Type I and syrinx in children undergoing magnetic resonance imaging

(2011) Jennifer Strahle et al.   Journal of Neurosurgery-Pediatrics

Familial Chiari malformation: case series

(2011) Benjamin D. Schanker et al.   Neurosurgical Focus

Chiari malformation associated with craniosynostosis

(2011) Jennifer Strahle et al.   Neurosurgical Focus

Neandertal Genome: The Ins and Outs of African Genetic Diversity

(2010) Jason A. Hodgson et al.   CURRENT BIOLOGY

Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

(2010) Maureen Murphy-Ryan et al.   GENETICS IN MEDICINE

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Coherent and incoherent inference in phylogeography and human evolution

(2010) A. R. Templeton   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis

(2009) Junnu Leikola et al.   CHILDS NERVOUS SYSTEM

Lrp4, a Novel Receptor for Dickkopf 1 and Sclerostin, Is Expressed by Osteoblasts and Regulates Bone Growth and Turnover In Vivo

(2009) Hong Y. Choi et al.   PLoS One

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

(2008) May Tassabehji et al.   HUMAN MUTATION

Volumetric analysis of the posterior cranial fossa in a family with four generations of the Chiari malformation Type I

(2008) R. Shane Tubbs et al.   Journal of Neurosurgery-Pediatrics

Soluble Flt-1 Regulates Flk-1 Activation to Control Hematopoietic and Endothelial Development in an Oxygen-Responsive Manner

(2008) Kelly A. Purpura et al.   STEM CELLS