Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)
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A. Polizzi | F. Lacarrubba | G. Micali | M. Ruggieri | A. Fiumara | C. Pirrone | S. Catanzaro | A. Zanghì | A. Praticò | F. Greco | F. Sullo | P. Smilari | C. Schepis | S. Mantegna | I. Pascual‐Castroviejo | Concetta Pirrone
[1] A. Polizzi,et al. Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes , 2018, American journal of medical genetics. Part A.
[2] A. Polizzi,et al. The multiple faces of artwork diagnoses , 2017, The Lancet Neurology.
[3] V. D’Orazi,et al. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas , 2017, Child's Nervous System.
[4] A. Polizzi,et al. Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms , 2017, Child's Nervous System.
[5] A. Polizzi,et al. Rediagnosing one of Smith’s patients (John McCann) with “neuromas tumours” (1849) , 2017, Neurological Sciences.
[6] A. Polizzi,et al. Mixed vascular nevus syndrome: a report of four new cases and a literature review. , 2016, Quantitative imaging in medicine and surgery.
[7] A. Polizzi,et al. Cutis tricolor: a literature review and report of five new cases. , 2016, Quantitative imaging in medicine and surgery.
[8] A. Polizzi,et al. Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies , 2016, Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale.
[9] P. Striano,et al. Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities , 2016, American journal of medical genetics. Part C, Seminars in medical genetics.
[10] S. Cavallaro,et al. A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features. , 2016, European journal of medical genetics.
[11] M. Ruggieri,et al. Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features , 2016, Journal of Pediatric Neurology.
[12] D. G. Evans,et al. Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. , 2015, Seminars in pediatric neurology.
[13] M. Ruggieri,et al. Mosaic Neurocutaneous Disorders and Their Causes. , 2015, Seminars in pediatric neurology.
[14] V. D’Orazi,et al. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features , 2015, Clinical genetics.
[15] M. Ruggieri,et al. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications , 2015, Neurological Sciences.
[16] M. Ruggieri,et al. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles , 2014, Italian Journal of Pediatrics.
[17] P. Trevisan,et al. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance? , 2014, Pediatric neurology.
[18] A. Polizzi,et al. Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study , 2014, Journal of pediatric endocrinology & metabolism : JPEM.
[19] A. Quattrone,et al. Natural history of neurofibromatosis type 2 with onset before the age of 1 year , 2013, neurogenetics.
[20] W. Dobyns,et al. Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria , 2013, American journal of medical genetics. Part A.
[21] M. Ruggieri,et al. Hemihydranencephaly: living with half brain dysfunction , 2013, Italian Journal of Pediatrics.
[22] M. Fichera,et al. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients , 2012, American journal of medical genetics. Part A.
[23] M. Ruggieri,et al. Complex malformation (Ruggieri–Happle) phenotype with “cutis tricolor” in a 10-year-old girl , 2012, Brain and Development.
[24] I. Glass,et al. Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis , 2012, American journal of medical genetics. Part A.
[25] A. Polizzi,et al. Ohtahara syndrome with emphasis on recent genetic discovery , 2012, Brain and Development.
[26] I. Glass,et al. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. , 2012, Brain : a journal of neurology.
[27] M. Ruggieri,et al. Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria , 2012, Brain and Development.
[28] A. Polizzi,et al. Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis. , 2012, Neuro endocrinology letters.
[29] A. Polizzi,et al. Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri‐Happle syndrome) , 2011, Acta paediatrica.
[30] R. Giugno,et al. Acute Disseminated Encephalomyelitis: A Long-Term Prospective Study and Meta-Analysis , 2010, Neuropediatrics.
[31] A. Polizzi,et al. Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children. , 2010, Pediatric neurology.
[32] A. Praticò,et al. Actualities on molecular pathogenesis and repairing processes of cerebral damage in perinatal hypoxic-ischemic encephalopathy , 2010, Italian journal of pediatrics.
[33] I. Kennerknecht,et al. Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases. , 2010, Neuropediatrics.
[34] C. Bonnet,et al. Developmental and benign movement disorders in childhood , 2010, Movement disorders : official journal of the Movement Disorder Society.
[35] A. Poretti,et al. Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria , 2010, European Journal of Pediatrics.
[36] A. Bar-Or,et al. Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis , 2010, Journal of Neuroimmunology.
[37] F. Zara,et al. Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy , 2009, Epilepsy Research.
[38] A. Fernández-Jaén,et al. Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. , 2009, Pediatric neurology.
[39] R. Tenconi,et al. Neurofibromatosis type 1 and infantile spasms , 2009, Child's Nervous System.
[40] A. Polizzi,et al. Cataracts in three children with a newly recognised neurocutaneous malformation phenotype with “cutis tricolor” , 2008, British Journal of Ophthalmology.
[41] T. Sanger,et al. RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders , 2008, Clinical genetics.
[42] A. Poretti,et al. Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. , 2008, European journal of medical genetics.
[43] A. C. Santos,et al. Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights , 2008, American journal of medical genetics. Part A.
[44] A. Polizzi,et al. Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity. , 2008, The Journal of pediatrics.
[45] A. Polizzi,et al. Infantile spasms in the setting of Sturge–Weber syndrome , 2008, Child's Nervous System.
[46] B. Ertl-Wagner,et al. Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature , 2008, European Journal of Pediatrics.
[47] A. Ramírez,et al. Gomez–Lopez–Hernandez syndrome: another consideration in focal congenital alopecia , 2007, The British journal of dermatology.
[48] W. Reardon,et al. Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome , 2007, Clinical dysmorphology.
[49] B. Ertl-Wagner,et al. Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature , 2007, European Journal of Pediatrics.
[50] W. Whetsell,et al. Gomez-Lopez-Hernandez syndrome , 2006, Pediatric Radiology.
[51] A. Polizzi,et al. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. , 2006, Pediatric neurology.
[52] S. Goergen,et al. Prenatal magnetic resonance imaging in Gomez‐Lopez‐Hernandez syndrome and review of the literature , 2005, American journal of medical genetics. Part A.
[53] M. Ruggieri,et al. A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. , 2005, Neuropediatrics.
[54] A. Polizzi,et al. Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome , 2005, Journal of pediatric endocrinology & metabolism : JPEM.
[55] A. Polizzi,et al. Ophthalmological manifestations in segmental neurofibromatosis type 1 , 2004, British Journal of Ophthalmology.
[56] A. C. Santos,et al. Neurocutaneous Disorders: Cerebello-trigemino-dermal dysplasia , 2004 .
[57] H. Gross. Die Rhombencephalosynapsis, eine systemisierte Kleinhirnfehlbildung , 2004, Archiv für Psychiatrie und Nervenkrankheiten.
[58] M. Ruggieri,et al. Delineation of a newly recognized neurocutaneous malformation syndrome with “cutis tricolor” , 2003, American journal of medical genetics. Part A.
[59] A. Polizzi,et al. From Aldrovandi’s “Homuncio” (1592) to Buffon’s girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis? , 2003, Journal of medical genetics.
[60] J. Pritchard. Acute ataxia complicating Langerhans cell histiocytosis , 2003, Archives of disease in childhood.
[61] N. Kocer,et al. Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. , 2002, Neuropediatrics.
[62] E. Tan,et al. Temporal Triangular Alopecia: Report of Five Cases in Asian Children , 2002, Pediatric dermatology.
[63] A. Polizzi,et al. Acute ataxia complicating Langherans cell histiocytosis , 2002, Archives of disease in childhood.
[64] A. Polizzi,et al. Tumors and hypomelanosis of Ito. , 2009, Archives of pathology & laboratory medicine.
[65] M. Ruggieri. Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). , 2001, American journal of medical genetics.
[66] R. Packer,et al. Why do benign astrocytomas become malignant in NF1? , 2001, Neurology.
[67] A. Polizzi,et al. Lack of progression of brain atrophy in Aicardi-Goutières syndrome. , 2001, Pediatric neurology.
[68] A. Polizzi,et al. Choroidal abnormalities and mental retardation in neurofibromatosis type 1 , 2001, The Lancet.
[69] K. Kurosawa. [Cerebello-trigeminal dermal dysplasia]. , 2001, Ryoikibetsu shokogun shirizu.
[70] M. Ruggieri. Familial hypomelanosis of ito: implications for genetic counselling. , 2000, American journal of medical genetics.
[71] P. Wheeler,et al. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. , 2000, American journal of medical genetics.
[72] M. Upadhyaya,et al. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1 , 2000, European Journal of Pediatrics.
[73] M. Finocchiaro,et al. Recurrent peripheral neuropathy in a girl with celiac disease , 2000, Journal of neurology, neurosurgery, and psychiatry.
[74] A. Polizzi,et al. Segmental neurofibromatosis [4] (multiple letters) , 2000 .
[75] M. Ruggieri,et al. Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). , 1999, Journal of pediatric orthopedics.
[76] S. Huson,et al. The neurofibromatoses. An overview , 1999, The Italian Journal of Neurological Sciences.
[77] M. Merino,et al. Unusual form of recurrent multinucleated giant cell granuloma of the mandible and lower extremities in a patient with neurofirbomatosis type 1 , 1999 .
[78] M. Ruggieri,et al. Parental view of epilepsy in Angelman syndrome: a questionnaire study , 1998, Archives of disease in childhood.
[79] A. Vincent,et al. Antibodies Affecting Ion Channel Function in Acquired Neuromyotonia, in Seropositive and Seronegative Myasthenia Gravis, and in Antibody‐mediated Arthrogryposis Multiplex Congenita , 1998, Annals of the New York Academy of Sciences.
[80] A. Polizzi,et al. Thalamic Syndrome in Children With Measles Infection and Selective, Reversible Thalamic Involvement , 1998, Pediatrics.
[81] A. C. Santos,et al. Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review. , 1997, American journal of medical genetics.
[82] A. Polizzi,et al. Tuberculosis of the Ankle in Childhood: Clinical, Roentgenographic and Computed Tomography Findings , 1997, Clinical pediatrics.
[83] M. Merino,et al. Ossifying fibroma of the skull in a patient with neurofibromatosis type 1. Case report. , 1996, Journal of neurosurgery.
[84] M. Ruggieri,et al. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens) , 1996, Neurology.
[85] A. Polizzi,et al. SHORT syndrome: a new case with probable autosomal dominant inheritance. , 1996, American journal of medical genetics.
[86] Kristina J. Liu,et al. Report of two cases , 1995 .
[87] A. Polizzi,et al. Aicardi syndrome with multiple tumors: a case report with literature review , 1995, Brain and Development.
[88] J. Rashbass. Online Mendelian Inheritance in Man. , 1995, Trends in genetics : TIG.
[89] R. Grimalt,et al. Encephalocraniocutaneous Lipomatosis: Case Report and Review of the Literature , 1993, Pediatric dermatology.
[90] C. Truwit,et al. MR imaging of rhombencephalosynapsis: report of three cases and review of the literature. , 1991, AJNR. American journal of neuroradiology.
[91] A. Trattner,et al. Segmental neurofibromatosis. , 1990, Journal of the American Academy of Dermatology.
[92] M. Gomez. Cerebello-Trigemino-Dermal Dysplasia , 1987 .
[93] A. López-Hernández. Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. , 1982, Neuropediatrics.
[94] M. Gomez. Cerebellotrigeminal and focal dermal dysplasia: A newly recognized neurocutaneous syndrome , 1979, Brain and Development.
[95] G. Bruyn,et al. Congenital malformations of the brain and skull , 1977 .
[96] F. Schanz,et al. Wiener Ophthalmologische Gesellschaft , 1904 .