Results 61 to 70 of about 15,911 (210)

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Molecular Cytogenetics, 2011
Background Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD).
Lall Meena, Thakur Seema, Puri Ratna, Verma Ishwar, Mukerji Mithali, Jha Pankaj   +5 more
doaj   +1 more source

Age and interhemispheric transfer time: A failure to replicate. [PDF]

, 1997
In a recent study with the Poffenberger paradigm, Brizzolara et al. reported longer estimates of interhemispheric transfer time (IHTT) for children aged 7 years than for adults. They interpreted this finding as evidence for incomplete functional maturity
Brysbaert, M., d'Ydewalle, G., Ratinckx, E.   +2 more
core   +1 more source

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

Clinical Genetics, EarlyView.
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

A rare cause of generalized seizures: agenesis and Lipoma of the corpus Callosum

The Pan African Medical Journal, 2014
An 18 years old young patient with no history presented to the emergency department suffering from episodes of generalized seizures and atypical headache without fever, the onset of symptoms dated back to two months.
Ahmed Belkouch, Abdelilah Mouhsine
doaj   +1 more source

A chemical genetic approach reveals distinct EphB signaling mechanisms during brain development. [PDF]

, 2012
EphB receptor tyrosine kinases control multiple steps in nervous system development. However, it remains unclear whether EphBs regulate these different developmental processes directly or indirectly.
Ataman, Bulent, Bloodgood, Brenda L, Cowan, Christopher W, Greenberg, Michael E, Ho, Hsin-Yi Henry, Malik, Athar N, Robichaux, Michael A, Rubin, Alex A, Sharma, Nikhil, Shokat, Kevan M, Soskis, Michael J, Zhang, Chao, Zieg, Janine   +12 more
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

The corpus callosum and creativity revisited

Frontiers in Human Neuroscience
In 1969 Joseph Bogen, a colleague of Roger Sperry and the neurosurgeon who performed commissurotomy on Sperry’s “split-brain” study participants, wrote an article subtitled “The Corpus Callosum and Creativity.” The article argued for the critical role of
Warren S. Brown, Warren S. Brown, Lynn K. Paul, Lynn K. Paul, Lynn K. Paul   +4 more
doaj   +1 more source

On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum

Orphanet Journal of Rare Diseases, 2021
Background While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births.
Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine, Liz Gill Atkinson   +4 more
doaj   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]

, 2013
The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia, A. Quartini, BERSANI, Giuseppe, C. Colletti, E. Prinzivalli, F. S. Bersani, G. Valeriani   +6 more
core