Results 81 to 90 of about 15,902 (210)

Clinical Features of Corpus Callosum Agenesis

Pediatric Neurology Briefs, 2006
The clinical and genetic characteristics of 63 patients with agenesis of the corpus callosum (ACC) are reported from the Scientific Institute “E Medea,” Italy.
J Gordon Millichap
doaj   +1 more source

Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. [PDF]

, 2014
BackgroundSupernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals.
Blumenthal, Jonathan D, Giedd, Jay N, Joshi, Shantanu H, Reuter, Martin, Thompson, Paul M, Toga, Arthur W, Wade, Benjamin SC   +6 more
core   +3 more sources

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

Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis

Behavioural Neurology, 2014
Psychiatric symptoms may occasionally be related to anatomic alterations of brain structures. Particularly, corpus callosum lesions seem to play a role in the change of patients’ behavior.
Giacomo Pavesi, Francesco Causin, Alberto Feletti   +2 more
doaj   +1 more source

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum [PDF]

, 2012
Disruption of the potassium/chloride cotransporter 3 (KCC3), encoded by the SLC12A6 gene, causes hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder ...
Dion, Patrick A., Gaudet, Rebecca, Hince, Pascale, Huot, Karine, Kurniawan, Nyoman, Laganiere, Janet, Mogil, Jeffrey S., Moldrich, Randal X., Rasheed, Sarah, Richards, Linda J., Ritchie, Jennifer, Rochefort, Daniel, Rouleau, Guy A., Salin-Cantegrel, Adele, Shekarabi, Masoud, Sotocinal, Susana G.   +15 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Learning and memory in individuals with agenesis of the corpus callosum [PDF]

, 2016
Damage to long white matter pathways in the cerebral cortex is known to affect memory capacity. However, the specific contribution of interhemispheric connectivity in memory functioning is only beginning to become understood.
Brown, Warren S., Erickson, Roger L., Hartman, Jo Ann, Paul, Lynn K.   +3 more
core   +1 more source

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria

Prenatal Diagnosis, Volume 46, Issue 3, Page 315-328, March 2026.
ABSTRACT Introduction The neurodevelopmental outcome of ‘Cystic’ malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a major issue. This study aimed to refine relevant MRI criteria for distinguishing DWM from BPC and identify prognostic factors.
Léa Schieffer, Catherine Garel, Laurent Guibaud, Christelle Rougeot‐Jung, Lydie Burglen, Mona Massoud, Dorothée Ville, Eléonore Blondiaux, Jean Marie Jouannic, Sara Cabet, Vincent DesPortes, Stéphanie Valence   +11 more
wiley   +1 more source

PRICKLE1-related early onset epileptic encephalopathy [PDF]

, 2018
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S, Leuzzi, V, Martinelli, M, Mastrangelo, M, Parrini, E, Tolve, M   +5 more
core   +1 more source

Spectrum of Corpus Callosum Agenesis

Pediatric Neurology Briefs, 2005
Magnetic resonance imaging and clinical features of 16 children with agenesis of the corpus callosum (ACC) are reviewed at UAE University, United Arab Emirates.
J Gordon Millichap
doaj   +1 more source