Results 61 to 70 of about 17,648 (257)

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

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

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Frontiers in Genetics, 2019
Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common.
Ying Jiang, Ye-Qing Qian, Meng-Meng Yang, Qi-Tao Zhan, Yuan Chen, Fang-Fang Xi, Matthew Sagnelli, Min-Yue Dong, Bai-Hui Zhao, Qiong Luo   +9 more
doaj   +1 more source

Assessment of length and area of corpus callosum by three-dimensional ultrasonography [PDF]

, 2010
PURPOSE: to establish reference values for the length and area of the fetal corpus callosum between the 20th and 33rd weeks of gestation using three-dimensional ultrasound (3DUS).
Araujo Júnior, Edward, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado, Rolo, Liliam Cristine, Visentainer, Milena   +4 more
core   +3 more sources

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Complete agenesis of the corpus callosum in paranoid schizophrenia—a case report

Clinical Case Reports, 2021
Corpus callosum agenesis is a rare condition and is sometimes associated with schizophrenia. The co‐existence of these two conditions adds value to the neurodevelopmental theory of schizophrenia.
Hari Neupane, Suresh Adhikari, Saraswati Dhungana   +2 more
doaj   +1 more source

Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report [PDF]

, 2022
Carmela Settimo, Lilla Bonanno, Maria Tresoldi, Rosalia Muratore, Francesca Cucinotta, Emanuela Tripodi, Adriana Piccolo, Smeralda Anchesi, Caterina Impallomeni   +8 more
openalex   +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