Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Ron C. Michaelis"'
Autor:
Ron C. Michaelis, David H. Ledbetter, Bernhard Horsthemke, Michael B. Petersen, F. Bernasconi, Wendy P. Robinson, Brian D. Kuchinka, Simone Schuffenhauer, Karen Brøndum-Nielsen, A. Schulze, Albert Schinzel, Susan L. Christian, Terry J. Hassold, Sylvie Langlois
Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q. Of these 128 cases a total of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8a8cb946bc8d8ff36a243b0f806064
http://doc.rero.ch/record/296786/files/7-6-1011.pdf
http://doc.rero.ch/record/296786/files/7-6-1011.pdf
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :628-636
Individuals with autism spectrum disorders (ASDs) have impairments in executive function and social cognition, with males generally being more severely affected in these areas than females. Because the dopamine D1 receptor (encoded by DRD1) is integr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee0ff2c84658871dd9e63a1c8b675f6
https://doi.org/10.1002/ajmg.b.30655
https://doi.org/10.1002/ajmg.b.30655
Autor:
Yong-hui Jiang, Jan Bressler, Richard S. Spielman, Trilochan Sahoo, Ron C. Michaelis, Dani Bercovich, Catherine D. Kashork, Lisa G. Shaffer, Qian Liu, Richard J. Schroer, Arthur L. Beaudet, David W. Stockton, Roger E. Stevenson
Publikováno v:
American Journal of Medical Genetics. :1-10
The genetic contribution to autism is often attributed to the combined effects of many loci (ten or more). This conclusion is based in part on the much lower concordance for dizygotic (DZ) than for monozygotic (MZ) twins, and is consistent with the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95e1e6486d6585048330dd40a9fa5ec
https://doi.org/10.1002/ajmg.a.30297
https://doi.org/10.1002/ajmg.a.30297
Publikováno v:
Journal of Autism and Developmental Disorders. 33:343-348
A recent study has suggested that the A218G polymorphism in the homeobox Al (HOXA1) gene may influence susceptibility to autism. We have determined the frequencies of the A and G alleles of the HOXA1 A218G polymorphism in both white and black patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5668949e047d0e685b38c296cb0a7a80
https://doi.org/10.1023/a:1024414803151
https://doi.org/10.1023/a:1024414803151
Publikováno v:
Fetal Diagnosis and Therapy. 17:115-119
Objective: Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations. Methods: Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2794c5e9335cb856220e81624da8c306
https://doi.org/10.1159/000048020
https://doi.org/10.1159/000048020
Publikováno v:
American Journal of Obstetrics and Gynecology. 185:198-203
Objective: With the use of microsatellite analysis, we sought to determine the incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material. Study Design: Deoxyribonucl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aff680d0aa2263ffb11377540efd3b8
https://doi.org/10.1067/mob.2001.114692
https://doi.org/10.1067/mob.2001.114692
Publikováno v:
Prenatal Diagnosis. 21:457-460
Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both tri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e53bfbc43774f44e42eb0ccb006131e
https://doi.org/10.1002/pd.80
https://doi.org/10.1002/pd.80
Autor:
Thomas P. Yang, Ron C. Michaelis, Jack Tarleton, Linda C. Surh, Christopher C. Glenn, Daniel J. Driscoll, Glenn Y. Deng, Mary C. Phelan
Publikováno v:
Prenatal Diagnosis. 20:300-306
The Angelman (AS) and Prader-Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3e5284293ae77ce133ff3fffcb7cc65
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<300::aid-pd803>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<300::aid-pd803>3.0.co
Autor:
Ron C. Michaelis, William D. Graf, Donald E. Born, Lynda W. Holloway, Dennis W. W. Shaw, John R. Thomas
Publikováno v:
Annals of Neurology. 47:113-117
The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f381ed892cf5f993aafbebe653da7c52
https://doi.org/10.1002/1531-8249(200001)47:1<113::aid-ana19>3.0.co
https://doi.org/10.1002/1531-8249(200001)47:1<113::aid-ana19>3.0.co
Autor:
Kathleen Kaiser-Rogers, Christa M. Lese, Ron C. Michaelis, Kathleen W. Rao, Cynthia M. Powell
Publikováno v:
American Journal of Medical Genetics. 95:28-35
Interpretation of a complex chromosome rearrangement (CCR) using only G-band analysis is difficult and potentially inaccurate. We present two patients with de novo, partially cryptic, CCRs that illustrate both the value and limitations of using fluor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee34908b7893f0c9f36e88b2e7426dc4
https://doi.org/10.1002/1096-8628(20001106)95:1<28::aid-ajmg7>3.0.co
https://doi.org/10.1002/1096-8628(20001106)95:1<28::aid-ajmg7>3.0.co