These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 19990992)

  • 21. A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
    Nguyen LS; Schneider T; Rio M; Moutton S; Siquier-Pernet K; Verny F; Boddaert N; Desguerre I; Munich A; Rosa JL; Cormier-Daire V; Colleaux L
    Eur J Hum Genet; 2016 Mar; 24(3):455-8. PubMed ID: 26153217
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
    Nellist M; Schot R; Hoogeveen-Westerveld M; Neuteboom RF; van der Louw EJ; Lequin MH; Bindels-de Heus K; Sibbles BJ; de Coo R; Brooks A; Mancini GM
    Mol Genet Metab; 2015 Mar; 114(3):467-73. PubMed ID: 25523067
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Megalencephaly associated with hyaline pan-neuropathy.
    CROME L
    Brain; 1953 Jun; 76(2):215-28. PubMed ID: 13081879
    [No Abstract]   [Full Text] [Related]  

  • 24. Is megalencephaly specific to autism?
    Ghaziuddin M; Zaccagnini J; Tsai L; Elardo S
    J Intellect Disabil Res; 1999 Aug; 43 ( Pt 4)():279-82. PubMed ID: 10466865
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia.
    DENNIS JP; ROSENBERG HS; ALVORD EC
    Brain; 1961 Sep; 84():427-45. PubMed ID: 13885465
    [No Abstract]   [Full Text] [Related]  

  • 26. MEGALENCEPHALY; A CLINICAL STUDY WITH CHROMOSOMAL ANALYSIS.
    SALMON JH; FLANIGAN S
    J Neurosurg; 1964 May; 21():409-12. PubMed ID: 14168210
    [No Abstract]   [Full Text] [Related]  

  • 27. [Clinical and anatomical findings in hemi-megalencephaly; role of cerebral hyperplasia and of local gigantism associated with phacomatosis].
    GROSS H; UIBERRAK B
    Virchows Arch Pathol Anat Physiol Klin Med; 1955; 327(5):577-89. PubMed ID: 13299673
    [No Abstract]   [Full Text] [Related]  

  • 28. MEGALENCEPHALY.
    DYGGVE H; TYGSTRUP I
    Dev Med Child Neurol; 1964 Dec; 6():581-4. PubMed ID: 14248475
    [No Abstract]   [Full Text] [Related]  

  • 29. [MEGALENCEPHALY: CONSIDERATIONS WITH REFERENCE TO 7 CASES DIAGNOSED INTRA VITAM].
    DE ALMEIDA GM; DE BARROS NG
    Arq Neuropsiquiatr; 1964 Mar; 22():25-32. PubMed ID: 14144518
    [No Abstract]   [Full Text] [Related]  

  • 30. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
    Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R
    Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Megalencephaly and Macrocephaly.
    Winden KD; Yuskaitis CJ; Poduri A
    Semin Neurol; 2015 Jun; 35(3):277-87. PubMed ID: 26060907
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.
    Almgren M; Schalling M; Lavebratt C
    Eur J Paediatr Neurol; 2008 Nov; 12(6):438-45. PubMed ID: 18242108
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with
    Pooh RK; Machida M; Imoto I; Arai EN; Ohashi H; Takeda M; Shimokawa O; Fukuta K; Shiozaki A; Saito S; Chiyo H
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33801456
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.
    Loughan AR; Harrell M; Perna R; Allen A; Suddarth B
    Appl Neuropsychol Child; 2017; 6(4):369-377. PubMed ID: 27216985
    [TBL] [Abstract][Full Text] [Related]  

  • 35. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
    Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB
    Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
    Harada A; Miya F; Utsunomiya H; Kato M; Yamanaka T; Tsunoda T; Kosaki K; Kanemura Y; Yamasaki M
    Childs Nerv Syst; 2015 Mar; 31(3):465-71. PubMed ID: 25416470
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Neurodevelopmental dysfunction among nonreferred children with idiopathic megalencephaly.
    Sandler AD; Knudsen MW; Brown TT; Christian RM
    J Pediatr; 1997 Aug; 131(2):320-4. PubMed ID: 9290626
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Macrocephaly: Solving the Diagnostic Dilemma.
    Tan AP; Mankad K; Gonçalves FG; Talenti G; Alexia E
    Top Magn Reson Imaging; 2018 Aug; 27(4):197-217. PubMed ID: 30086108
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.
    Taylor DL; Wildin RS; Morley KW
    Pediatr Dermatol; 2021 Mar; 38(2):536-537. PubMed ID: 33325571
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly.
    Iyer RS; Thomas B; Akhtar S; Kumar P
    BMJ Case Rep; 2017 Oct; 2017():. PubMed ID: 29066644
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.