Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jyotsna Sudi"'
Autor:
Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi, Michael J Herriges, Alexander R Paciorkowski, A James Barkovich, Joseph T Glessner, Kathleen J Millen, Hakon Hakonarson, William B Dobyns, Elliott H Sherr
Publikováno v:
PLoS Genetics, Vol 9, Iss 10, p e1003823 (2013)
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery eff
Externí odkaz:
https://doaj.org/article/38bc6373d53e49c3b54ea00de1a412d8
Autor:
Ravinesh A Kumar, Christian R Marshall, Judith A Badner, Timothy D Babatz, Zohar Mukamel, Kimberly A Aldinger, Jyotsna Sudi, Camille W Brune, Gerald Goh, Samer Karamohamed, James S Sutcliffe, Edwin H Cook, Daniel H Geschwind, William B Dobyns, Stephen W Scherer, Susan L Christian
Publikováno v:
PLoS ONE, Vol 4, Iss 2, p e4582 (2009)
Autism is a complex childhood neurodevelopmental disorder with a strong genetic basis. Microdeletion or duplication of a approximately 500-700-kb genomic rearrangement on 16p11.2 that contains 24 genes represents the second most frequent chromosomal
Externí odkaz:
https://doaj.org/article/8c5aebdca10a446baf691826ea0db006
Publikováno v:
American Journal of Medical Genetics Part A. 155:892-897
We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly describ
Autor:
Ilaria Lombardo, Danilo Castellano-Chiodo, William B. Dobyns, Jyotsna Sudi, Gemma Incorpora, Susan L. Christian, Martino Ruggieri, Lorenzo Pavone, Roberta Biancheri, Norma J. Nowak, Andrea Rossi, Piero Pavone
Publikováno v:
European Journal of Pediatrics
Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass
Autor:
Susan L. Christian, Jeffrey M. Conroy, Jyotsna Sudi, Edwin H. Cook, Eli Hatchwell, T. Conrad Gilliam, Samer KaraMohamed, Devin McQuaid, Shaung Liu, Camille W. Brune, Judith A. Badner, Sei-Ichi Matsui, Ravinesh A. Kumar, James Gergel, Elliot S. Gershon, William B. Dobyns, Norma J. Nowak
Publikováno v:
Biological Psychiatry. 63:1111-1117
Background One genetic mechanism known to be associated with autism spectrum disorders (ASD) is chromosomal abnormalities. The identification of copy number variants (CNV), i.e., microdeletions and microduplications that are undetectable at the level
Autor:
Jyotsna Sudi, William B. Dobyns, Samer KaraMohamed, Norma J. Nowak, Donald F. Conrad, Edwin H. Cook, T. Conrad Gilliam, Ravinesh A. Kumar, Camille W. Brune, Susan L. Christian, Judith A. Badner
Publikováno v:
Human Molecular Genetics. 17:628-638
Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridi
Autor:
Carola A. Haas, Jyotsna Sudi, Kerstin Kutsche, Victor V. Chizhikov, Lawrence Charnas, Armin Flubacher, William B. Dobyns, Juliane Najm, Denise Horn, Alma Kuechler, Reinhard Ullmann, Gökhan Uyanik, Jeffrey A. Golden, Ulrich Frank, Susan L. Christian, Eva Klopocki, Isabella Wimplinger
Publikováno v:
Nature Genetics. 40:1065-1067
CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrom
Autor:
Carole Ober, Jyotsna Sudi, Julian Solway, Anne I. Sperling, Courtney N. Tierney, Lourdes Norwick, John F. McConville, Edward T. Naureckas, Douglas K. Hogarth, Jessie Nicodemus-Johnson, Dan L. Nicolae, Steven R. White, Bharathi Laxman, Randi Stern, Jerry A. Krishnan
Publikováno v:
The Journal of allergy and clinical immunology. 131(6)
Background We previously reported an interaction between maternal asthma and the child's HLA-G genotype on the child's subsequent risk for asthma. The implicated single nucleotide polymorphism at +3142 disrupted a target site for the microRNA (miR)-1
Autor:
Dagan A. Loisel, Julian Solway, Jyotsna Sudi, Steven R. White, John F. McConville, Carole Ober, Jerry A. Krishnan, Jessie Nicodemus-Johnson, Anne I. Sperling, Randi Stern, Kristen M. Patterson, Douglas K. Hogarth
Publikováno v:
D31. ADVANCES IN ASTHMA GENETICS.
Publikováno v:
Autism research : official journal of the International Society for Autism Research. 2(6)
We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located