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Journal Abstract Search

125 related items for PubMed ID: 20730324

  • 1. MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy.
    Mattos AM, Marques AD, Parrela CP, Fish JM, Artigalas OA, Ranzan J, Winkcler MI, Ohlweiler L, Riesgo Rdos S.
    Arq Neuropsiquiatr; 2010 Aug; 68(4):642-4. PubMed ID: 20730324
    [No Abstract] [Full Text] [Related]

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  • 3. [Three cases of Costello syndrome presenting with intractable epilepsy and profound psychomotor retardation/regression].
    Fujikawa Y, Sugai K, Fukumizu M, Hanaoka S, Sasaki M, Kaga M.
    No To Hattatsu; 2001 Sep; 33(5):430-5. PubMed ID: 11558147
    [Abstract] [Full Text] [Related]

  • 4. Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.
    Alsaif HS, Khashab HYEL, Alkuraya FS.
    Am J Med Genet A; 2021 Feb; 185(2):604-607. PubMed ID: 33247513
    [No Abstract] [Full Text] [Related]

  • 5. Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhäuser syndrome) in two sisters with hypoplastic corpus callosum.
    Balci S, Tekşam O, Gedik S.
    Turk J Pediatr; 2002 Feb; 44(3):274-7. PubMed ID: 12405447
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  • 6. Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.
    Iodice A, Spagnoli C, Frattini D, Salerno GG, Rizzi S, Fusco C.
    Seizure; 2019 Jul; 69():296-297. PubMed ID: 31146092
    [No Abstract] [Full Text] [Related]

  • 7. Motor and sensory dysfunctions in children with mental retardation and epilepsy.
    Beckung E, Steffenburg U, Uvebrant P.
    Seizure; 1997 Feb; 6(1):43-50. PubMed ID: 9061823
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  • 9. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
    Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A.
    Am J Med Genet A; 2016 Aug; 170(8):2181-5. PubMed ID: 27170158
    [Abstract] [Full Text] [Related]

  • 10. MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS.
    Atik T, Atik SS, Çoğulu O, Özkinay F.
    Genet Couns; 2015 Aug; 26(4):443-5. PubMed ID: 26852516
    [No Abstract] [Full Text] [Related]

  • 11. Megalocornea-mental retardation syndrome: report of a new case.
    Barisić I, Ligutić I, Zergollern L.
    J Med Genet; 1996 Oct; 33(10):882-3. PubMed ID: 8933347
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  • 13. Sandifer syndrome: an overlooked diagnosis?
    Nanayakkara CS, Paton JY.
    Dev Med Child Neurol; 1985 Dec; 27(6):816-9. PubMed ID: 4092855
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  • 15. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
    Neuhäuser G, Kaveggia EG, France TD, Opitz JM.
    Z Kinderheilkd; 1975 Jul 01; 120(1):1-18. PubMed ID: 1172332
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  • 17. [Neuhauser syndrome: the facial dysmorphic phenotype].
    Aviña-Fierro JA, Hernández-Aviña DA.
    Rev Med Inst Mex Seguro Soc; 2016 Jul 01; 54(1):106-8. PubMed ID: 26820212
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  • 18. Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?
    Grosso S, Scattolini R, Paolo G, Di Bartolo RM, Morgese G, Balestri P.
    Neurosurgery; 2001 Nov 01; 49(5):1099-103; discussion 1103-4. PubMed ID: 11846903
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  • 20. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
    Sousa SB, Ramos F, Garcia P, Pais RP, Paiva C, Beales PL, Moore GE, Saraiva JM, Hennekam RC.
    Am J Med Genet A; 2014 Jan 01; 164A(1):10-4. PubMed ID: 24501761
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