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 *

155 related articles for article (PubMed ID: 33958329)

  • 1. The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
    Goergen SK; Alibrahim E; Christie J; Dobrotwir A; Fahey M; Fender L; Frawley K; Manikkam SA; Pinner JR; Sinnott S; Romaniello R; Sandaradura SA; Taylor J; Vasudevan A; Righini A
    AJNR Am J Neuroradiol; 2021 Aug; 42(8):1528-1534. PubMed ID: 33958329
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R; Melegh BI; Till A; Ripszam R; Csabi G; Acharya A; Schrauwen I; Leal SM; Komoly S; Kosztolanyi G; Hadzsiev K
    Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
    Su XR; Ma B; Zhang C; Li TG; Han BL; Wu WR; Nie F
    Fetal Diagn Ther; 2024; 51(2):154-158. PubMed ID: 38008077
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
    Gripp KW; Hopkins E; Vinkler C; Lev D; Malinger G; Lerman-Sagie T; Dobyns WB
    Am J Med Genet A; 2009 May; 149A(5):868-76. PubMed ID: 19353582
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A
    Zhao MF; Zhang SL; Xiang Y; Wang Q; Cao GH; Zhang PP; Fan LL; Yu R; Li YL
    DNA Cell Biol; 2024 Jul; 43(7):325-330. PubMed ID: 38700464
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis of MPPH syndrome.
    De Keersmaecker B; Van Esch H; Van Schoubroeck D; Claus F; Moerman P; De Catte L
    Prenat Diagn; 2013 Mar; 33(3):292-5. PubMed ID: 23348821
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
    Mirzaa GM; Conway RL; Gripp KW; Lerman-Sagie T; Siegel DH; deVries LS; Lev D; Kramer N; Hopkins E; Graham JM; Dobyns WB
    Am J Med Genet A; 2012 Feb; 158A(2):269-91. PubMed ID: 22228622
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.
    Goergen SK; Fahey MC
    AJNR Am J Neuroradiol; 2022 Apr; 43(4):633-638. PubMed ID: 35332020
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
    Tapper WJ; Foulds N; Cross NC; Aranaz P; Score J; Hidalgo-Curtis C; Robinson DO; Gibson J; Ennis S; Temple IK; Collins A
    PLoS One; 2014; 9(1):e86940. PubMed ID: 24497998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
    Mirzaa GM; Rivière JB; Dobyns WB
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
    Zamora TG; Roberts KD
    BMJ Case Rep; 2013 Oct; 2013():. PubMed ID: 24092603
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases.
    Scarabello M; Righini A; Severino M; Pinelli L; Parazzini C; Scola E; Palumbo G; Di Maurizio M; D'Errico I; Rossi A; Triulzi F; Griffiths PD
    AJNR Am J Neuroradiol; 2021 Jun; 42(6):1151-1156. PubMed ID: 33707279
    [TBL] [Abstract][Full Text] [Related]  

  • 13. MPPH syndrome: two new cases.
    Osterling WL; Boyer RS; Hedlund GL; Bale JF
    Pediatr Neurol; 2011 May; 44(5):370-3. PubMed ID: 21481746
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
    Pirozzi F; Lee B; Horsley N; Burkardt DD; Dobyns WB; Graham JM; Dentici ML; Cesario C; Schallner J; Porrmann J; Di Donato N; Sanchez-Lara PA; Mirzaa GM
    Am J Med Genet A; 2021 Sep; 185(9):2719-2738. PubMed ID: 34087052
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.
    Kobayashi Y; Magara S; Okazaki K; Komatsubara T; Saitsu H; Matsumoto N; Kato M; Tohyama J
    Brain Dev; 2016 Nov; 38(10):950-953. PubMed ID: 27381655
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
    Rivière JB; Mirzaa GM; O'Roak BJ; Beddaoui M; Alcantara D; Conway RL; St-Onge J; Schwartzentruber JA; Gripp KW; Nikkel SM; Worthylake T; Sullivan CT; Ward TR; Butler HE; Kramer NA; Albrecht B; Armour CM; Armstrong L; Caluseriu O; Cytrynbaum C; Drolet BA; Innes AM; Lauzon JL; Lin AE; Mancini GM; Meschino WS; Reggin JD; Saggar AK; Lerman-Sagie T; Uyanik G; Weksberg R; Zirn B; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Shendure J; Graham JM; Boycott KM; Dobyns WB
    Nat Genet; 2012 Jun; 44(8):934-40. PubMed ID: 22729224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
    Mirzaa G; Parry DA; Fry AE; Giamanco KA; Schwartzentruber J; Vanstone M; Logan CV; Roberts N; Johnson CA; Singh S; Kholmanskikh SS; Adams C; Hodge RD; Hevner RF; Bonthron DT; Braun KPJ; Faivre L; Rivière JB; St-Onge J; Gripp KW; Mancini GM; Pang K; Sweeney E; van Esch H; Verbeek N; Wieczorek D; Steinraths M; Majewski J; ; Boycot KM; Pilz DT; Ross ME; Dobyns WB; Sheridan EG
    Nat Genet; 2014 May; 46(5):510-515. PubMed ID: 24705253
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
    Garavelli L; Guareschi E; Errico S; Simoni A; Bergonzini P; Zollino M; Gurrieri F; Mancini GM; Schot R; Van Der Spek PJ; Frigieri G; Zonari P; Albertini E; Giustina ED; Amarri S; Banchini G; Dobyns WB; Neri G
    Neuropediatrics; 2007 Aug; 38(4):200-3. PubMed ID: 18058629
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.
    Pisano T; Meloni M; Cianchetti C; Falchi M; Nucaro A; Pruna D
    J Child Neurol; 2008 Aug; 23(8):916-8. PubMed ID: 18474936
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
    Mirzaa GM; Conti V; Timms AE; Smyser CD; Ahmed S; Carter M; Barnett S; Hufnagel RB; Goldstein A; Narumi-Kishimoto Y; Olds C; Collins S; Johnston K; Deleuze JF; Nitschké P; Friend K; Harris C; Goetsch A; Martin B; Boyle EA; Parrini E; Mei D; Tattini L; Slavotinek A; Blair E; Barnett C; Shendure J; Chelly J; Dobyns WB; Guerrini R
    Lancet Neurol; 2015 Dec; 14(12):1182-95. PubMed ID: 26520804
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.