Results 91 to 100 of about 17,723 (256)

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

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

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

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

Etiology of Agenesis of Corpus Callosum

Pediatric Neurology Briefs, 2000
Agenesis of the corpus callosum was found in 7 of 135 children (aged 3 months to 15 years) with structural cerebral defects on MRI.
J Gordon Millichap
doaj   +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

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

“Caterpillar sign” in corpus callosum associated with curvilinear pericallosal lipoma in MRI: A case report

Radiology Case Reports
Lipoma of the corpus callosum, also known as pericallosal lipoma, is a rare congenital brain abnormality associated with corpus callosum dysgenesis or agenesis.
Kazutoshi Konomatsu, Yosuke Kakisaka, Shiho Sato, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Kazutaka Jin, Shunji Mugikura, Masashi Aoki, Nobukazu Nakasato   +9 more
doaj   +1 more source

3 The Aesthetics of Empathy in Agenesis of the Corpus Callosum [PDF]

, 2023
Kutter Callaway, Kaitlyn A Nogales, Lynn K. Paul, Warren S. Brown   +3 more
openalex   +1 more source