Related references
Note: Only part of the references are listed.Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Ashley L. Lennox et al.
NEURON (2020)
Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis
Aaron P. Adam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
An evolutionary and developmental biology approach to gastroschisis
John M. Opitz et al.
BIRTH DEFECTS RESEARCH (2019)
Redefining the Etiologic Landscape of Cerebellar Malformations
Kimberly A. Aldinger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Subcortical heterotopic gray matter brain malformations Classification study of 107 individuals
Renske Oegema et al.
NEUROLOGY (2019)
A theory for polymicrogyria and brain arteriovenous malformations in HHT
Jesse M. Klostranec et al.
NEUROLOGY (2019)
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Andrew E. Fry et al.
BRAIN (2018)
Developmental outcome in a group of twins: Relation to perinatal factors and general movements
Tamara Dostanic et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)
Is there a relationship between fetal sex and placental pathological characteristics in twin gestations?
Shayesteh Jahanfar et al.
BMC PREGNANCY AND CHILDBIRTH (2018)
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Erin L. Heinzen et al.
PLOS GENETICS (2018)
Histopathological examination of the placenta in twin pregnancies
Brendan Fitzgerald
APMIS (2018)
Further refinement of COL4A1 and COL4A2 related cortical malformations
Mara Cavallin et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of disease
Sara Zagaglia et al.
NEUROLOGY (2018)
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
Jack E. Steiner et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
E. Jurkiewicz et al.
CLINICAL NEURORADIOLOGY (2017)
The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population
G. J. Palagallo et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2017)
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Mark A. Corbett et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer et al.
JOURNAL OF MEDICAL GENETICS (2017)
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1
Brittany A. Charsar et al.
PEDIATRIC NEUROLOGY (2017)
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management
A. Jessey Chugh et al.
PEDIATRIC NEUROSURGERY (2017)
An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits
Tadashi Shiohama et al.
CASE REPORTS IN PEDIATRICS (2017)
Acquired Dandy Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI
Anna Pichiecchio et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)
Perinatal outcome according to chorionicity in twins - a Polish multicenter study
Katarzyna Kosinska-Kaczynska et al.
GINEKOLOGIA POLSKA (2016)
Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007
April L. Dawson et al.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH (2016)
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Loic Broix et al.
NATURE GENETICS (2016)
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
Gianina Ravenscroft et al.
NEUROMUSCULAR DISORDERS (2016)
Risk Factors for Dandy-Walker Malformation: A Population-Based Assessment
Matthew R. Reeder et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Perioperative Risk Factors in Patients With 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
Carrie Stransky et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2015)
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Alistair T. Pagnamenta et al.
HUMAN MOLECULAR GENETICS (2015)
Dandy-Walker Malformation: is the 'tail sign' the key sign?
Silvia Bernardo et al.
PRENATAL DIAGNOSIS (2015)
Perioperative Risk Factors in Patients With 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
Carrie Stransky et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2015)
Neuroimaging and Neurodevelopmental Outcome in Extremely Preterm Infants
Susan R. Hintz et al.
PEDIATRICS (2015)
Amyoplasia Revisited
Judith G. Hall et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Tbx1 regulates brain vascularization
Sara Cioffi et al.
HUMAN MOLECULAR GENETICS (2014)
Malformations of cortical development: clinical features and genetic causes
Renzo Guerrini et al.
LANCET NEUROLOGY (2014)
Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis
M. Massoud et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2014)
Altered Lipid Metabolism in Gastroschisis: A Novel Hypothesis
Kenneth Lyons Jones et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Magnetic Resonance Imaging Findings in Pediatric Bilateral Vocal Fold Dysfunction
Joel I. Steiner et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2013)
Gastroschisis is a defect of the Umbilical ring: Evidence from Morphological evaluation of stillborn fetuses
Monica Rittler et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2013)
What-and Why-the Pathologist Should Know About Twin-to-Twin Transfusion Syndrome
Monique E. De Paepe et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2013)
Hypothesis: Estrogen Related Thrombosis Explains the Pathogenesis and Epidemiology of Gastroschisis
Mark Lubinsky
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin
Eveline H. Shue et al.
JOURNAL OF PEDIATRIC SURGERY (2012)
Prevalence of Noncardiac Structural Anomalies in Twin-Twin Transfusion Syndrome
Shivani Patel et al.
JOURNAL OF ULTRASOUND IN MEDICINE (2012)
Unilateral Cerebellar Hypoplasia with Different Clinical Features
Gulcin Benbir et al.
CEREBELLUM (2011)
Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome
C. P. Hess et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2010)
Septo-Optic Dysplasia and Associations with Amyoplasia and Gastroschisis
Benjamin Kamien et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2010)
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
Richard J. Leventer et al.
BRAIN (2010)
A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome
Matthew D. Johnson et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2010)
Congenital Bilateral Perisylvian Syndrome in a Monozygotic Twin with Intra-uterine Death ot the Co-twin
Patrick Van Bogaert et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Outcome of severe unilateral cerebellar hypoplasia
Andrea Poretti et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Abnormal development of the human cerebral cortex
Waney Squier et al.
JOURNAL OF ANATOMY (2010)
Multiple intestinal atresia and congenital bilateral perisylvian syndrome in a surviving monochorionic twin with intrauterine death of the co-twin
Kyoko Mochizuki et al.
JOURNAL OF PEDIATRIC SURGERY (2010)
Posthemorrhagic Cerebellar Disruption Mimicking Dandy-Walker Malformation: Fetal Imaging and Neuropathology Findings
Catherine Limperopoulos et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2010)
Is There Epidemiologic Disruption as a Pathogenesis Evidence to Support Vascular of Gastroschisis?
Martha M. Werler et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder
Coro Paisan-Ruiz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
Twinning on the Brain: The Effect on Neurodevelopmental Outcomes
Thuy Mai Luu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2009)
The pregnancy and long-term neurodevelopmental outcome of monochorionic diamniotic twin gestations: a multicenter prospective cohort study from the first trimester onward
Els Ortibus et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2009)
Monozygotic Twins Discordant for Dandy-Walker Malformation
Dong-Zhi Li et al.
FETAL DIAGNOSIS AND THERAPY (2009)
A Case of Amyoplasia in a Monochorionic Twin Pregnancy: A Sequela from Twin-Twin Transfusion Syndrome?
H. S. Wong et al.
FETAL DIAGNOSIS AND THERAPY (2009)
Cerebellar Cleft: Confirmation of the Neuroimaging Pattern
A. Poretti et al.
NEUROPEDIATRICS (2009)
Congenital anomalies in twins: a register-based study
S. V. Glinianaia et al.
HUMAN REPRODUCTION (2008)
Dandy-Walker syndrome and monochorionic twins: Insight into a possible etiological mechanism
Eftichia V. Kontopoulos et al.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2008)
Cerebellar cleft: A form of prenatal cerebellar disruption
A. Poretti et al.
NEUROPEDIATRICS (2008)
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
Boris Keren et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research
Marcia L. Feldkamp et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Polymicrogyria in a neonate with severe autoimmune thrombocytopenia: rare coincidence or related disorder?
Enrico Lopriore et al.
PRENATAL DIAGNOSIS (2007)
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Nathaniel H. Robin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Periventricular heterotopia:: phenotypic heterogeneity and correlation with Filamin A mutations
E. Parrini et al.
BRAIN (2006)
Weinberg's differential rule reconsidered
Johan Fellman et al.
HUMAN BIOLOGY (2006)
Schizencephaly: Heterogeneous etiologies in a population of 4 million California births
CJ Curry et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Prenatal risk factors for cerebral palsy in very preterm singletons and twins
F Livinec et al.
OBSTETRICS AND GYNECOLOGY (2005)
Prevalence of cranial scan abnormalities in preterm twins in relation to chorionicity and discordant birth weight
AL Adegbite et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY (2005)
Septo-optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis
CA Stevens et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Septo-optic dysplasia with digital anomalies - A recurrent pattern syndrome
IM Harrison et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Fetal Dandy-Walker malformation complicated by late third-trimester unilateral intraventricular hemorrhage
DM Sherer et al.
JOURNAL OF ULTRASOUND IN MEDICINE (2004)
Fetal cerebellar hemorrhage in a severely growth-restricted fetus:: natural history and differential diagnosis from Dandy-Walker malformation
A Yüksel et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2003)
Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome
H Yamanouchi et al.
JOURNAL OF CHILD NEUROLOGY (2002)
Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images
N Hayashi et al.
NEURORADIOLOGY (2002)
Septo-optic dysplasia and digital anomalies:: Another observation
L Faivre et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
EA Lindsay et al.
NATURE (2001)
Septo-optic dysplasia plus: A spectrum of malformations of cortical development
SP Miller et al.
NEUROLOGY (2000)