Delineating septo‐optic dysplasia
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[1] M. Lubinsky. Hypothesis: By‐products of vascular disruption carried in the CSF affect prenatal brain development , 2022, Birth defects research.
[2] Lubinsky M. Evidence for an Estrogen Disruptor Driven Meta-Epidemic Including Hygiene Hypothesis Related Potentiation and Beneficial Effects Related to the Obesity Paradox , 2022, Austin Environmental Sciences.
[3] R. Lipton,et al. Mutation analysis , 1998 .
[4] J. Jayamohan,et al. Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives , 2019, Eye and brain.
[5] S. Winham,et al. Sex hormones in alcohol consumption: a systematic review of evidence , 2017, Addiction biology.
[6] D. Zafeiriou,et al. Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins. , 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[7] P. Griffiths. Schizencephaly revisited , 2018, Neuroradiology.
[8] P. Horn,et al. Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus , 2018, Prenatal diagnosis.
[9] L. E. Martínez-de-Villarreal,et al. Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment? , 2018, Pediatric Surgery International.
[10] Supriya Khardenavis,et al. Septo-Optic Dysplasia: A Mini Review , 2018 .
[11] F. Kirkham,et al. Fetal stroke and cerebrovascular disease Advances in understanding from alloimmune thrombocytopaenia and monochorionic twins , 2018 .
[12] Darrell M. Wilson,et al. 50 Years Ago in The Journal of Pediatrics: Familial Holoprosencephaly with Endocrine Dysgenesis. , 2018, The Journal of pediatrics.
[13] P. Garcia-Filion,et al. Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia , 2017, Hormone Research in Paediatrics.
[14] B. Rosenblatt,et al. Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases , 2017, Journal of child neurology.
[15] W. Tan,et al. Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia , 2017, Clinical case reports.
[16] Atul Sharma,et al. Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. , 2016, Paediatrics & child health.
[17] H. Sarnat,et al. Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure. , 2016, Pediatric neurology.
[18] M. Borchert,et al. The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. , 2016, Advances in pediatrics.
[19] R. Keep,et al. Intraventricular Hemorrhage: the Role of Blood Components in Secondary Injury and Hydrocephalus , 2016, Translational Stroke Research.
[20] R. Keep,et al. Hemoglobin-induced neuronal degeneration in the hippocampus after neonatal intraventricular hemorrhage , 2016, Brain Research.
[21] H. Sarnat,et al. Neurocutaneous Syndromes as Embryonic Neurocristopathies , 2016, Journal of Pediatric Epilepsy.
[22] Dominique Hasboun,et al. Incomplete Hippocampal Inversion: A Comprehensive MRI Study of Over 2000 Subjects , 2015, Front. Neuroanat..
[23] B. Chung,et al. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations , 2015, Journal of Medical Genetics.
[24] F. Ataullakhanov,et al. Hemostasis and thrombosis beyond biochemistry: roles of geometry, flow and diffusion. , 2015, Thrombosis research.
[25] R. Mayeux,et al. Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum , 2015, BMC Neurology.
[26] L. Bobadilla-Morales,et al. Prevalence and risk factors for gastroschisis in a public hospital from west México , 2015, Congenital anomalies.
[27] J. Mohr,et al. A Functional Perspective on the Embryology and Anatomy of the Cerebral Blood Supply , 2015, Journal of stroke.
[28] M. Lubinsky. Gastroschisis and endocrine disruptors , 2015 .
[29] S. Hansson,et al. Extracellular hemoglobin - mediator of inflammation and cell death in the choroid plexus following preterm intraventricular hemorrhage , 2014, Journal of Neuroinflammation.
[30] M. Maheshwari,et al. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia , 2014, Clinical genetics.
[31] C. Garel,et al. Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis , 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[32] M. Severino,et al. Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia , 2014, American Journal of Neuroradiology.
[33] R. Zimmerman,et al. Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly , 2014, American Journal of Neuroradiology.
[34] M. Lubinsky. A vascular and thrombotic model of gastroschisis , 2014, American journal of medical genetics. Part A.
[35] P. Garcia-Filion,et al. Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. , 2013, Survey of ophthalmology.
[36] S. Hansson,et al. Hemoglobin induces inflammation after preterm intraventricular hemorrhage by methemoglobin formation , 2013, Journal of Neuroinflammation.
[37] Kamlesh,et al. Optic nerve hypoplasia , 2013, Oman journal of ophthalmology.
[38] K. Yokochi,et al. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly , 2013, Annals of neurology.
[39] P. Garcia-Filion,et al. Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations , 2013, Current Treatment Options in Neurology.
[40] A. Barlier,et al. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report , 2012, Pituitary.
[41] G. Malinger,et al. Prenatal Sonography in Hydranencephaly , 2012, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.
[42] R. Kuzniecky,et al. A developmental and genetic classification for malformations of cortical development: update 2012 , 2012, Brain : a journal of neurology.
[43] E. Draper,et al. Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register‐based study , 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[44] D. Pineda-Alvarez,et al. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum , 2011, American journal of medical genetics. Part A.
[45] M. Lehtinen,et al. Determinants of Maternal Sex Steroids During the First Half of Pregnancy , 2011, Obstetrics and gynecology.
[46] M. Dattani,et al. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. , 2011, Best practice & research. Clinical endocrinology & metabolism.
[47] C. Truwit,et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families , 2011, Neurology.
[48] N. Kocer,et al. Unilateral Cerebellar Hypoplasia with Different Clinical Features , 2011, The Cerebellum.
[49] J. Hahn,et al. Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies , 2010, American Journal of Neuroradiology.
[50] J. Clayton-Smith,et al. Identification of genomic loci contributing to agenesis of the corpus callosum , 2010, American journal of medical genetics. Part A.
[51] M. Dattani,et al. Septo-optic dysplasia , 2010, European Journal of Human Genetics.
[52] L. Sztriha,et al. Epidemiology and Clinical Spectrum of Schizencephaly in South-Eastern Hungary , 2010, Journal of child neurology.
[53] P. Garcia-Filion,et al. Optic nerve hypoplasia in North America: a re‐appraisal of perinatal risk factors , 2009, Acta ophthalmologica.
[54] D. Prayer,et al. Morphological spectrum of prenatal cerebellar disruptions. , 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[55] G. Rembouskos,et al. Disorders of prosencephalic development , 2009, Prenatal diagnosis.
[56] P. Griffiths,et al. Imaging the corpus callosum, septum pellucidum and fornix in children: normal anatomy and variations of normality , 2009, Neuroradiology.
[57] J. Selhorst,et al. The Optic Nerve , 2009, Seminars in neurology.
[58] H. Willshaw,et al. Optic nerve hypoplasia in patients with septo optic dysplasia (SOD) and isolated optic nerve hypoplasia (ONH) , 2008 .
[59] P. Garcia-Filion,et al. The syndrome of optic nerve hypoplasia , 2008, Current neurology and neuroscience reports.
[60] G. Shaw,et al. Agenesis of the corpus callosum in California 1983–2003: A population‐based study , 2008, American journal of medical genetics. Part A.
[61] J. Troendle,et al. Eye malformations in children with heavy alcohol exposure in utero. , 2008, The Journal of pediatrics.
[62] P. Garcia-Filion,et al. Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children With Optic Nerve Hypoplasia: A Prospective Study , 2008, Pediatrics.
[63] D. Prayer,et al. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings , 2008, European Journal of Pediatrics.
[64] M. Dattani,et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. , 2007, The Journal of clinical endocrinology and metabolism.
[65] A. Arslan,et al. Effects of Parity on Pregnancy Hormonal Profiles Across Ethnic Groups with a Diverse Incidence of Breast Cancer , 2006, Cancer Epidemiology Biomarkers & Prevention.
[66] K. Kuban,et al. Septo-optic-dysplasia-schizencephaly , 1989, Pediatric Radiology.
[67] A. Polizzi,et al. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. , 2006, Pediatric neurology.
[68] G. Shaw,et al. Schizencephaly: Heterogeneous etiologies in a population of 4 million California births , 2005, American journal of medical genetics. Part A.
[69] T. Cole,et al. Mutation analysis of POUF‐1, PROP‐1 and HESX‐1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo‐optic dysplasia , 2005, Clinical endocrinology.
[70] R. Osborn. Schizencephaly and Septo-optic dysplasia: separate entities , 2005, Pediatric Radiology.
[71] J. Kujovich. Hormones and pregnancy: thromboembolic risks for women , 2004, British journal of haematology.
[72] C. Stevens,et al. Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis , 2004, American journal of medical genetics. Part A.
[73] I. C. Lloyd,et al. Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. , 2003, The Journal of clinical endocrinology and metabolism.
[74] J. Nakae,et al. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. , 2003, The Journal of clinical endocrinology and metabolism.
[75] Y. Ville,et al. A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[76] A. Barkovich,et al. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images , 2002, Neuroradiology.
[77] R. Stanhope,et al. Endocrinopathies associated with midline cerebral and cranial malformations. , 2002, The Journal of pediatrics.
[78] M. T. Bhatti,et al. Septo-optic dysplasia with olfactory tract and bulb hypoplasia. , 2001, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
[79] N. Girard,et al. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum , 2001, Child's Nervous System.
[80] P. May,et al. Estimating the prevalence of fetal alcohol syndrome. A summary. , 2001 .
[81] K. Tornqvist,et al. Visually impaired Swedish children. Longitudinal comparisons 1980-1999. , 2000, Acta ophthalmologica Scandinavica.
[82] M. Shevell,et al. Septo-optic dysplasia plus: A spectrum of malformations of cortical development , 2000, Neurology.
[83] A. Hellström. Optic nerve morphology may reveal adverse events during prenatal and perinatal life--digital image analysis. , 1999, Survey of ophthalmology.
[84] A. Heils,et al. Isolated absence of the septum pellucidum , 1999, Neuroradiology.
[85] M. Brodsky. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. , 1998, Survey of ophthalmology.
[86] M. Lubinsky. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. , 1997, American journal of medical genetics.
[87] I. Casteels,et al. Septo-optic dysplasia. , 1994, Bulletin de la Societe belge d'ophtalmologie.
[88] D. Stula,et al. Intraventricular Hemorrhage , 1989, Journal of child neurology.
[89] M. Brodsky,et al. Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. , 1993, Archives of ophthalmology.
[90] D. Norman,et al. Septo-optic dysplasia: MR imaging. , 1989, Radiology.
[91] J. Aicardi,et al. Absence of the septum pellucidum with porencephalia. A neuroradiologic syndrome with variable clinical expression. , 1988, Archives of neurology.
[92] J. Bullock,et al. Ophthalmic findings of hydranencephaly. , 1988, Journal of pediatric ophthalmology and strabismus.
[93] W. Rothfus,et al. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. , 1984, Acta endocrinologica.
[94] C. Hoyt,et al. Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS. , 1984, Archives of ophthalmology.
[95] K E FOGHT-NIELSEN,et al. [Agenesis of the corpus callosum]. , 1954, Ugeskrift for laeger.