285 related articles for article (PubMed ID: 22859694)
21. Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.
Gerkes EH; Hordijk R; Dijkhuizen T; Sival DA; Meiners LC; Sikkema-Raddatz B; van Ravenswaaij-Arts CM
Eur J Med Genet; 2010; 53(5):344-6. PubMed ID: 20553986
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Garavelli L; Leask K; Zanacca C; Pedori S; Albertini G; Della Giustina E; Croci GF; Magnani C; Banchini G; Clayton-Smith J; Bocian M; Firth H; Gold JA; Hurst J
Genet Couns; 2005; 16(2):117-28. PubMed ID: 16080291
[TBL] [Abstract][Full Text] [Related]
26. Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study.
de Fatima Vasco Aragao M; van der Linden V; Brainer-Lima AM; Coeli RR; Rocha MA; Sobral da Silva P; Durce Costa Gomes de Carvalho M; van der Linden A; Cesario de Holanda A; Valenca MM
BMJ; 2016 Apr; 353():i1901. PubMed ID: 27075009
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
Abe Y; Kobayashi S; Wakusawa K; Tanaka S; Inui T; Yamamoto T; Kunishima S; Haginoya K
J Child Neurol; 2014 Jun; 29(6):818-22. PubMed ID: 23439715
[TBL] [Abstract][Full Text] [Related]
29. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.
Aykut A; Cogulu O; Ekmekci AY; Ozkinay F
Genet Couns; 2008; 19(2):237-40. PubMed ID: 18618999
[TBL] [Abstract][Full Text] [Related]
30. Congenital polymicrogyria including the perisylvian region in early childhood.
Takano T; Matsuwake K; Yoshioka S; Takeuchi Y
Congenit Anom (Kyoto); 2010 Mar; 50(1):64-7. PubMed ID: 20201970
[TBL] [Abstract][Full Text] [Related]
31. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.
Cappuccio G; Ugga L; Parrini E; D'Amico A; Brunetti-Pierri N
Mol Genet Genomic Med; 2019 Jun; 7(6):e708. PubMed ID: 31056854
[TBL] [Abstract][Full Text] [Related]
32. Bilateral operculum syndrome in childhood.
Szabó N; Hegyi A; Boda M; Páncsics M; Pap C; Zágonyi K; Romhányi E; Túri S; Sztriha L
J Child Neurol; 2009 May; 24(5):544-50. PubMed ID: 19196875
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Handoko M; Emrick LT; Rosenfeld JA; Wang X; Tran AA; Turner A; Belmont JW; ; Lee BH; Bacino CA; Chao HT
Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
[TBL] [Abstract][Full Text] [Related]
35. Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.
Ercan TE; Oztunc F; Celkan T; Bor M; Kizilkilic O; Vural M; Perk Y; Islak C; Tuysuz B
J Child Neurol; 2013 Jan; 28(1):115-9. PubMed ID: 22451530
[TBL] [Abstract][Full Text] [Related]
36. Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome.
Bindu PS; Taly AB; Sinha S; Bharath RD
Pediatr Neurol; 2010 Feb; 42(2):129-32. PubMed ID: 20117750
[TBL] [Abstract][Full Text] [Related]
37. Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis.
Toldo I; Calderone M; Sartori S; Mardari R; Gatta M; Boniver C; Guerrini R; Battistella PA
J Child Neurol; 2011 Mar; 26(3):361-5. PubMed ID: 21273507
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus.
Hadzipasic M; Karsten MB; Olson H; Rodan L; Lidov H; Prabhu SP; Wright K; Fehnel KP
Am J Med Genet A; 2021 May; 185(5):1614-1618. PubMed ID: 33634562
[No Abstract] [Full Text] [Related]
40. Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
St John LJ; Rao N
BMJ Case Rep; 2021 Dec; 14(12):. PubMed ID: 34969807
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]