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Articles (35)
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Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder

Kenneth D. Gadow, Carla J. DeVincent, Doreen M. Olvet, Victoria Pisarevskaya, Eli Hatchwell

Journal:

European Journal of Neuroscience

Année:

2010

Langue:

english

Fichier:

PDF, 274 KB

english, 2010

Parent–child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder

Kenneth D. Gadow, Carla J. DeVincent, Victoria Pisarevskaya, Doreen M. Olvet, Wenjie Xu, Nancy R. Mendell, Stephen J. Finch, Eli Hatchwell

Journal:

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Année:

2010

Langue:

english

Fichier:

PDF, 412 KB

english, 2010

Brief Report: Glutamate Transporter Gene (SLC1A1)Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder

Kenneth D. Gadow, Jasmin Roohi, Carla J. DeVincent, Sarah Kirsch, Eli Hatchwell

Journal:

Journal of Autism and Developmental Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 242 KB

english, 2010

The potential role of epigenomic dysregulation in complex human disease

Eli Hatchwell, John M. Greally

Journal:

Trends in Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 449 KB

english, 2007

Shackled, Shameful, and Shoddy

Webber, Steven A., Hatchwell, Eli, Barber, John C.K., Crolla, John A., Salmon, Anthony P., Keeton, Barry R., Dennis, Nick R., Karen Temple, I.

Journal:

The Lancet

Année:

1988

Langue:

english

Fichier:

PDF, 463 KB

english, 1988

Detection of candidate nectin gene mutations in infertile men with severe teratospermia

Bronson, Richard, Mikhailik, Anatoly, Schwedes, John, Gnatenko, Dimitri, Hatchwell, Eli

Journal:

Journal of Assisted Reproduction and Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2017

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

Hatchwell, Eli, Long, Fiona, Wilde, Jerry, Crolla, John, Temple, Karen

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 110 KB

english, 1998

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus

David H. Tegay, Andrew H. Lane, Jasmin Roohi, Eli Hatchwell

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 167 KB

english, 2007

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell, Sarah H. Elsea

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 283 KB

english, 2007

Toriello-Carey syndrome phenotype and chromosome anomalies

Helga V. Toriello, Eli Hatchwell

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 54 KB

english, 2008

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Sibel Kantarci, Kate G. Ackerman, Meaghan K. Russell, Mauro Longoni, Carrie Sougnez, Kristin M. Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane-Yeboa, Paul Dickman, Jay W

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 566 KB

english, 2010

A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder

Jasmin Roohi, David H. Tegay, John C. Pomeroy, Sandra Burkett, Gary Stone, Roscoe Stanyon, Eli Hatchwell

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 312 KB

english, 2008

BAK1 gene variation and abdominal aortic aneurysms—Variants are likely due to sequencing of a processed gene on chromosome 20

Eli Hatchwell

Journal:

Human Mutation

Année:

2010

Langue:

english

Fichier:

PDF, 165 KB

english, 2010

Association of a Monoamine Oxidase-A Gene Promoter Polymorphism With ADHD and Anxiety in Boys With Autism Spectrum Disorder

Jasmin Roohi, Carla J. DeVincent, Eli Hatchwell, Kenneth D. Gadow

Journal:

Journal of Autism and Developmental Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 242 KB

english, 2009

Association of COMT (Val158Met) and BDNF (Val66Met) Gene Polymorphisms with Anxiety, ADHD and Tics in Children with Autism Spectrum Disorder

Kenneth D. Gadow, Jasmin Roohi, Carla J. DeVincent, Sarah Kirsch, Eli Hatchwell

Journal:

Journal of Autism and Developmental Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 251 KB

english, 2009

Extending the overlap of three congenital overgrowth syndromes

Brian Coppin, Isabella Moore, Eli Hatchwell

Journal:

Clinical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 511 KB

english, 1997

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 448 KB

english, 2009

Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder

Kenneth D. Gadow, Jasmin Roohi, Carla J. DeVincent, Eli Hatchwell

Journal:

Journal of Child Psychology and Psychiatry

Année:

2008

Langue:

english

Fichier:

PDF, 132 KB

english, 2008

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays

Jizu Zhi, Eli Hatchwell

Journal:

BMC Genomics

Année:

2008

Langue:

english

Fichier:

PDF, 276 KB

english, 2008

A 2-Mb YAC Contig Encompassing Three Loci (DXF34, DXS14, and DXS390) That Lie between Xp11.2 Translocation Breakpoints Associated with Incontinentia Pigmenti Type 1

Vivienne Reed, Sue Rider, Gareth Ll. Maslen, Eli Hatchwell, Helen J. Blair, Ifeanyi C. Uwechue, Ian W. Craig, Steven H. Laval, Anthony P. Monaco, Yvonne Boyd

Journal:

Genomics

Année:

1994

Fichier:

PDF, 489 KB

1994

Construction of Two YAC Contigs in Human Xp11.23–p11.22, One Encompassing the Loci OATL1,GATA,TFE3, and SYP, the Other Linking DXS255 to DXS146

SIMON E. FISHER, ELI HATCHWELL, AARTI CHAND, NANCY OCKENDEN, ANTHONY P. MONACO, IAN W. CRAIG

Journal:

Genomics

Année:

1995

Langue:

english

Fichier:

PDF, 102 KB

english, 1995

Localization of Human Liver 6-Phosphofructo-2-kinase/Fructose-2,6-bisphosphatase (PFKFB1) within a YAC Contig in Xp11.21

Ritu Sonia Batra, Eli Hatchwell, Sue Rider, Ruth Brown, Garry K. Brown, Ian W. Craig

Journal:

Genomics

Année:

1997

Langue:

english

Fichier:

PDF, 96 KB

english, 1997

Lack of association between the 5-HTTLPR and the error-related negativity (ERN)

Doreen M. Olvet, Eli Hatchwell, Greg Hajcak

Journal:

Biological Psychology

Année:

2010

Langue:

english

Fichier:

PDF, 338 KB

english, 2010

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study

Steven A. Webber, Eli Hatchwell, John C.K. Barber, Piers E.F. Daubeney, John A. Crolla, Anthony P. Salmon, Barry R. Keeton, I.Karen Temple, Nick R. Dennis

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 757 KB

english, 1996

Shprintzen-Goldberg Syndrome Results From Mutationsin Fibrillin-1, Not Monosomy 22q11

Eli Hatchwell

Journal:

The Journal of Pediatrics

Année:

1997

Langue:

english

Fichier:

PDF, 121 KB

english, 1997

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

Susan L. Christian, Camille W. Brune, Jyotsna Sudi, Ravinesh A. Kumar, Shaung Liu, Samer Karamohamed, Judith A. Badner, Seiichi Matsui, Jeffrey Conroy, Devin McQuaid, James Gergel, Eli Hatchwell, T. C

Journal:

Biological Psychiatry

Année:

2008

Langue:

english

Fichier:

PDF, 532 KB

english, 2008

Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder

Kenneth D. Gadow, Carla J. DeVincent, Victoria I. Siegal, Doreen M. Olvet, Saniya Kibria, Sarah F. Kirsch, Eli Hatchwell

Journal:

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Année:

2013

Langue:

english

Fichier:

PDF, 240 KB

english, 2013

Multicomponent polymer coating to block photocatalytic activity of TiO2 nanoparticles

Lee, Wilson A., Pernodet, Nadine, Li, Bingquan, Lin, Chien H., Hatchwell, Eli, Rafailovich, Miriam H.

Journal:

Chemical Communications

Année:

2007

Langue:

english

Fichier:

PDF, 316 KB

english, 2007

762-4 Importance of Microdeletions of Chromosomal Region 22q11 In the Etiology of Congenital Conotruncal Malformations: A 2 Year Prospective Study

Webber, Steven A., Hatchwell, Eli, Barber, John C.K., Crolla, John A., Salmon, Anthony P., Keeton, Barry R., Dennis, Nick R., Karen Temple, I.

Journal:

Journal of the American College of Cardiology

Année:

1995

Langue:

english

Fichier:

PDF, 156 KB

english, 1995

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD

Richard, Anne Claire, Rovelet-Lecrux, Anne, Delaby, Elsa, Charbonnier, Camille, Thiruvahindrapuram, Bhooma, Hatchwell, Eli, Eis, Peggy S., Afenjar, Alexandra, Dussardier, Brigitte Gilbert, Scherer, St

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 104 KB

english, 2016

Comparative genomic hybridization solves a 14-year-old PARKIN mystery

Schüle, Birgitt, Hatchwell, Eli, Eis, Peggy S., Langston, J. William

Journal:

Annals of Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 879 KB

english, 2015

A simple modification to the luminometric methylation assay to control for the effects of DNA fragmentation

Duman, Elif Aysimi, Kriaucionis, Skirmantas, Dunn, John J., Hatchwell, Eli

Journal:

BioTechniques

Année:

2015

Langue:

english

Fichier:

PDF, 467 KB

english, 2015

Is There a (Host) Genetic Predisposition to Progressive Multifocal Leukoencephalopathy?

Hatchwell, Eli

Journal:

Frontiers in Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 99 KB

english, 2015

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease

Zafar, Faria, Valappil, Ruksana Azhu, Kim, Sam, Johansen, Krisztina K., Chang, Anne Lynn S., Tetrud, James W., Eis, Peggy S., Hatchwell, Eli, Langston, J. William, Dickson, Dennis W., Schüle, Birgitt

Journal:

npj Parkinson s Disease

Année:

2018

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2018

Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

Eis, Peggy S., Huang, Neng, Langston, J. William, Hatchwell, Eli, SchÃ¼le, Birgitt

Journal:

Frontiers in Neurology

Année:

2020

Fichier:

PDF, 2.00 MB

2020