Elliott H Sherr
Affiliation: University of California
- The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypesElliott H Sherr
Departments of Neurology and Pediatrics, University of California, San Francisco, California 94143 0748, USA
Curr Opin Pediatr 15:567-71. 2003..Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients...
- Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
BMC Med Genet 12:172. 2011..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M...
- Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformationsSteven W Hetts
Department of Radiology, University of California at San Francisco, 505 Parnassus Ave, L358, San Francisco, CA 94143 0628, USA
AJR Am J Roentgenol 187:1343-8. 2006..We sought to categorize the structural brain anomalies associated with abnormalities of the corpus callosum and anterior and hippocampal commissures in a large cohort...
- VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Hum Mutat 33:364-8. 2012..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...
- Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type ASimay Kara
Department of Radiology, University of California, San Francisco, California, USA
Pediatr Neurol 38:363-6. 2008..This case calls attention to the variety of appearances possible with magnetic resonance imaging in Sanfilippo syndrome type A...
- Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndromeJiang Li
Department of Neurology, University of California, San Francisco, California 94143, USA
Am J Med Genet A 143:1900-5. 2007..This case presents many features similar to Temtamy syndrome and will help in establishing the spectrum of this disorder...
- Agenesis of the corpus callosum in California 1983-2003: a population-based studyHannah C Glass
Department of Neurology, University of California, San Francisco, California 94143 0137, USA
Am J Med Genet A 146:2495-500. 2008....
- The importance of metabolic testing in the evaluation of intellectual disabilitySabine Mueller
Ann Neurol 64:113-4. 2008
- Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivityLynn K Paul
California Institute of Technology, MC 228 77 Pasadena, California 91125, USA
Nat Rev Neurosci 8:287-99. 2007..The study of AgCC could provide insight into the integrated cerebral functioning of healthy brains, and may offer a model for understanding certain psychiatric illnesses, such as schizophrenia and autism...
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
- NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsWeining Lu
Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
PLoS Genet 3:e80. 2007....
- Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, and Centre for Molecular Medicine, The University of Manchester, M13 0JH, UK
Am J Hum Genet 81:292-303. 2007..AKT3 represents an excellent candidate for developmental human MIC and ACC, and we suggest that haploinsufficiency causes both postnatal MIC and ACC...