Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Anne Marie Higgins"'
Autor:
Mark Bowser, Anna Blonska, Jordi Rosell, Elaine H. Zackai, Molly B. Sheridan, Tao Wang, Wendy R. Kates, Bernice E. Morrow, Robert J. Shprintzen, Jonathan H. Chung, Jacob Johnson, Damian Heine-Suñer, Xin Zheng, M. Cristina Digilio, Donna M. McDonald McGinn, Nicole Philip, Koen Devriendt, Jeroen Breckpot, Karlene Coleman, Anne Marie Higgins, Courtney Carpenter, Tingwei Guo, Beverly S. Emanuel, Frits A. Beemer, Anne S. Bassett, Marcella Devoto, Sean Herman, Eva W.C. Chow, Bruno Dallapiccola, Bruno Marino, Alan L. Shanske, Tony J. Simon, Ann Swillen
Publikováno v:
American Journal of Medical Genetics Part A. :2781-2787
Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this di
Autor:
Xin Zheng, Tingwei Guo, Karlene Coleman, Anne Marie Higgins, Jacob Johnson, Jordi Rosell, Alan L. Shanske, Courtney Carpenter, Donna M. McDonald-McGinn, Ann Swillen, Frits A. Beemer, Anna Blonska, Molly B. Sheridan, Robert J. Shprintzen, Jeroen Breckpot, Anne S. Bassett, Marcella Devoto, Beverly S. Emanuel, Eva W.C. Chow, Maria Cristina Digilio, Elizabeth Goldmuntz, Elaine H. Zackai, Mark Bowser, Wendy R. Kates, Bernice E. Morrow, Jonathan H. Chung, Damian Heine-Suñer, Bruno Dallapiccola, Bruno Marino, Tony J. Simon, Nicole Philip, Koen Devriendt, Tao Wang
Publikováno v:
Human Mutation. 32:1278-1289
Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are
Autor:
Marcia A. Friedman, Cheryl A. Roe, Bernice E. Morrow, Anne Marie Higgins, Dongliang Wang, Robert J. Shprintzen, Nathanial R Miletta, Wendy R. Kates
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 75:1167-1172
Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about ho
Autor:
Kevin M. Antshel, Wendy R. Kates, Frank A. Middleton, Robert J. Shprintzen, Ioana L. Coman, Matthew H. Gnirke, Anne Marie Higgins, Wanda Fremont
Publikováno v:
NeuroImage. 53:1043-1050
Velo-cardio-facial syndrome (VCFS) is caused by a micro-deletion of over 40 genes at the q11.2 locus of chromosome 22 and is a risk factor for the development of schizophrenia and other psychiatric disorders. COMT, one of the genes located in the del
Autor:
Robert J. Shprintzen, Anne Marie Higgins, Kevin M. Antshel, Wendy R. Kates, Wanda Fremont, Nancy J. Roizen
Publikováno v:
The Journal of Pediatrics. 157:658-661
To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group.This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2
Autor:
Wendy R. Kates, Anne Marie Higgins, Kevin M. Antshel, Stephen V. Faraone, Wanda Fremont, Robert J. Shprintzen
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 49:333-344
Objective To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). Method A total of 70 youth with VCFS, 27 siblings of youth with VCFS, and 25 community controls were followed from childhood (mean age=11.8 years) into mid
Autor:
Nancy J. Roizen, Kevin M. Antshel, Nuria AbdulSabur, Anne Marie Higgins, Wendy R. Kates, Robert J. Shprintzen, Wanda Fremont
Publikováno v:
Journal of Developmental & Behavioral Pediatrics. 28:119-124
The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on thei
Autor:
Robert J. Shprintzen, Stephen V. Faraone, Nuria AbdulSabur, Wendy R. Kates, Wanda Fremont, Anne Marie Higgins, Alka Aneja, Kevin M. Antshel
Publikováno v:
Journal of Child and Adolescent Psychopharmacology. 17:105-114
Mania and bipolar disorder have been reported in adolescents and adults with velocardiofacial syndrome (VCFS; also known as 22q11.2 deletion syndrome). Children with VCFS have a high prevalence of attention-deficit/hyperactivity disorder (ADHD), whic
Autor:
Courtney P. Burnette, Wanda Fremont, Leslie Strunge, Robert J. Shprintzen, Kevin M. Antshel, Anne Marie Higgins, Wendy R. Kates
Publikováno v:
American Journal of Medical Genetics Part A. :2642-2650
At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism
Autor:
Raju Kucherlapati, Robert J. Shprintzen, Deirdre Colgan, Nuria AbdulSabur, Anne Marie Higgins, Wendy R. Kates, Wanda Fremont, Kevin M. Antshel, Birgit Funke
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :274-280
Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocogni