Results 251 to 260 of about 50,276 (321)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

ILAE genetic literacy series: Focal cortical dysplasia. [PDF]

Epileptic Disord
Macdonald-Laurs E, Leventer RJ, ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**.   +2 more
europepmc   +1 more source

Focal cortical dysplasias

, 2005
Fauser, S, Schulze-Bonhage, BA, Honegger, J, Carmona, H, Rona, S, Huppertz, HJ, Bast, T, Strobl, K, Pantazis, G, Steinhoff, BJ, Korinthenberg, R, Rating, D, Volk, B, Zentner, J   +13 more
openaire   +1 more source

Predicting postoperative motor outcomes in the surgical management of Rolandic focal cortical dysplasia: the role of glucose metabolism. [PDF]

BMC Med
Luo W, Yang B, Zhao X, Zhao B, Zhang C, Wang X, Mo J, Lu X, Zheng Z, Shao X, Zhang J, Zhang K, Hu W.   +12 more
europepmc   +1 more source

Focal cortical dysplasia

, 2009
openaire   +1 more source

Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms. [PDF]

Acta Epileptol
Fang Y, Zhang Y, Huang T, Yang S, Li Y, Zhou L.   +5 more
europepmc   +1 more source

Focal Cortical Dysplasia

, 2014
openaire   +2 more sources

Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy. [PDF]

BMJ Case Rep
Alaqili AK, Jadah RHS, Alkhayyat HM.
europepmc   +1 more source

Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2. [PDF]

Epilepsia Open
Kim SH, Kang HC, Roh YH, Hahn J, Min KL, Lee SJ, Yang D, Choi HS, Park S, Lee JH, Lee SG, Kim SH, Chang MJ, Kim HD.   +13 more
europepmc   +1 more source

ILAE neuroimaging task force highlight: MRI detection of early life epilepsy caused by focal cortical dysplasia. [PDF]

Epileptic Disord
Cohen NT, Vezina LG, Oluigbo C, Anwar T, Archer J, Bernhardt BC, Caciagli L, Cendes F, Chinvarun Y, Concha L, Federico P, Kobayashi E, Ogbole G, Rampp S, Vaudano AE, Wang ZI, Wang S, Winston GP, Gaillard WD.   +18 more
europepmc   +1 more source