Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Richard J Simensen"'
Autor:
Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Publikováno v:
BMJ Open, Vol 6, Iss 4 (2016)
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://doaj.org/article/63e513f726c64e4db29d23d9f58c5f6e
Autor:
Barbara R. DuPont, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Rini Pauly, Steven A. Skinner, Harold A. Taylor, Richard J. Simensen, Michael J. Friez
Publikováno v:
Journal of Autism and Developmental Disorders. 51:677-684
The course of 187 individuals ages 3–21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995–1998, follow up: 2014–2019). Specific genetic and environmental causes were identified in only a minority. Intellectu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40216cbf18da5661a0d206512db8faea
https://doi.org/10.1007/s10803-020-04568-3
https://doi.org/10.1007/s10803-020-04568-3
Autor:
Gordon Kimbrell, Lucia Horowitz, Katie Pietris, Callum Wilson, David Sillence, Sara M. Sarasua, Sara Cathey, Richard J. Simensen
Publikováno v:
JIMD Reports
JIMD Reports, Vol 50, Iss 1, Pp 44-49 (2019)
JIMD Reports, Vol 50, Iss 1, Pp 44-49 (2019)
Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regardi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269230c71878d3cd7af109b85905a51a
http://europepmc.org/articles/PMC6850974
http://europepmc.org/articles/PMC6850974
Autor:
Cindy, Skinner, Rini, Pauly, Steven A, Skinner, Richard J, Schroer, Richard J, Simensen, Harold A, Taylor, Michael J, Friez, Barbara R, DuPont, Roger E, Stevenson
Publikováno v:
Journal of autism and developmental disorders. 51(2)
The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d4304097f4015078624173ba8dabfa52
https://pubmed.ncbi.nlm.nih.gov/32592095
https://pubmed.ncbi.nlm.nih.gov/32592095
Autor:
Charles E. Schwartz, Stephen McGee, Mark A. Corbett, Marie A. Shaw, Samantha Saxon, Michael Field, Raman Kumar, Lucy Murray, Cindy Skinner, Ying Yzu Yap, Courtney Sebold, Monica J. Basehore, Maria E. Craig, Roger E. Stevenson, Jozef Gecz, Barbara van Loon, Richard J. Simensen, Susan Sklower Brooks, Fatima Abidi, Patrick S. Tarpey, Matthias Bosshard, Michael J. Friez, Lesley C. Adès, Alison Gardner
Publikováno v:
BMJ Open
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c0b5b535f4e4281f64f9018cdbc3647
https://pubmed.ncbi.nlm.nih.gov/27130160
https://pubmed.ncbi.nlm.nih.gov/27130160
Autor:
Jeanette J. A. Holden, Patricia N. Howard-Peebles, Agatino Battaglia, Richard J. Simensen, Gene S. Fisch, N. J. Carpenter, Jack Tarleton
Publikováno v:
American Journal on Intellectual and Developmental Disabilities. 117:167-179
Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee1bbc04d3317df19adaccdb9391cb5
https://doi.org/10.1352/1944-7558-117.2.167
https://doi.org/10.1352/1944-7558-117.2.167
Autor:
Tonya Moss, Barbara R. DuPont, John L. Johnson, Frank O. Bartel, Cindy Skinner, Roger E. Stevenson, Charles E. Schwartz, Katherine Berry, Michael J. Friez, Margaret L. Bauman, Julia Butler, Richard J. Simensen, Karl J. Franek
Publikováno v:
American Journal of Medical Genetics Part A. 155:1109-1114
X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605f7440d55c347aa9bf7722a26f9a2b
https://doi.org/10.1002/ajmg.a.33833
https://doi.org/10.1002/ajmg.a.33833
Autor:
Gene S. Fisch, Janey Youngblom, Agatino Battaglia, Rena E. Falk, Richard J. Simensen, Paul Grossfeld
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :417-426
Wolf-Hirschhorn syndrome (WHS) is a complex congenital malformation produced by a loss of genomic material at the locus 4p16.3. In addition to its dysmorphic features, the deletion produces a range of intellectual disability (ID). Many clinical aspec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c252550deac8c3ce24b4bf44580b0f
https://doi.org/10.1002/ajmg.c.30279
https://doi.org/10.1002/ajmg.c.30279
Autor:
Michael R. Stratton, Maria Giselle Matheus, Patrick S. Tarpey, David A. Griesemer, Roger E. Stevenson, Jane Zheng Fan, Richard J. Schroer, Richard J. Simensen, Michael J. Friez, Charles E. Schwartz, Kenton R. Holden, Petter Strømme
Publikováno v:
American Journal of Medical Genetics Part A. :2775-2783
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfill
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a007e259ad729884084ff839c20d0557
https://doi.org/10.1002/ajmg.a.33093
https://doi.org/10.1002/ajmg.a.33093
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :252-256
As a subset of genetic abnormalities, subtelomeric deletions have been found in 7-10% of individuals with mental retardation (MR). One subtelomeric deletion, Wolf-Hirschhorn syndrome (WHS), causes mild to severe MR, but the cognitive-behavioral featu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4cac97382d653c76e64dc70ceea7e7
https://doi.org/10.1002/ajmg.c.30185
https://doi.org/10.1002/ajmg.c.30185