Results 101 to 110 of about 2,255 (147)

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. [PDF]

Genes (Basel)
Yeter B, Kendir Demirkol Y, Usluer E, Görüşen Kavak İ, Ergin SG, Elçioğlu NH.   +5 more
europepmc   +1 more source

A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disorders. [PDF]

Front Cell Neurosci
Di Pasquale G, Colella J, Di Cataldo CP, Soler MA, Fortuna S, Mizrahi-Powell E, Nizon M, Cognè B, Turchetti V, Mangano GD, Comisi FF, Cecchetti C, Giliberti A, Nardello R, Pavone P, Falsaperla R, Di Rosa G, Evrony GD, Delvecchio M, Severino M, Accogli A, Vittori A, Salpietro V.   +22 more
europepmc   +1 more source

Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography. [PDF]

Brain Sci, 2023
Ortug A, Valli B, Alatorre Warren JL, Shiohama T, van der Kouwe A, Takahashi E.   +5 more
europepmc   +1 more source

Association of Congenital Mesoblastic Nephroma and Cerebral Lissencephaly/Pachygyria: Case Report and Literature Review

Hristina Zakić, Olivera Kontić‐Vučinić, Jelena Stamenković, Jovan Jevtić, Milena Mitrović, Maja Životić   +5 more
openalex   +1 more source

Familial Lennox‐Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria [PDF]

, 2010
Kate Lawrence, Davide Mei, Mark R. Newton, Richard J. Leventer, Renzo Guerrini, Samuel F. Berkovic   +5 more
openalex   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Lissencephaly–pachygyria masquerading as leukodystrophy on magnetic resonance imaging brain

, 2017
AnilVasudev Israni, Anirban Mandal
openalex   +2 more sources

Pachygyria and polymicrogyria in 22q11 deletion syndrome [PDF]

, 2005
Hiroaki Ehara, Yoshihiro Maegaki, Kenzo Takeshita   +2 more
openalex   +1 more source

Genetic Syndromes Including Intellectual Disability and Different Cancer Types. [PDF]

Mol Syndromol
Ünsel-Bolat G, Dutar E, Bolat H.
europepmc   +1 more source

“Reverse Tigroid” Pattern in Pachygyria: A Novel Finding

, 2016
Ujjawal Roy, Alak Pandit, Urmila Das, Ajay Panwar   +3 more
openalex   +1 more source