Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sharon M. Bain"'
Autor:
Sue Brown, S. Yu, Suzanna C. Thompson, Christopher Barnett, Eric Haan, Jan Liebelt, Lesley M McGregor, Elizabeth Thompson, Kathryn Friend, Sharon M. Bain, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Yvonne Hull, Damian Clark, Claire Pridmore, John Entwistle, Michael G. Harbord, John C. Mulley
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:24-35
The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8c1ac52a6209262e39f35833184568
https://doi.org/10.1002/ajmg.b.32114
https://doi.org/10.1002/ajmg.b.32114
Autor:
Samuel F. Berkovic, Karen Oliver, Sarah E. Heron, Bronwyn E. Grinton, Helen J. Eyre, John C. Mulley, Sharon M. Bain, Ingrid E. Scheffer
Publikováno v:
Epilepsia. 51:1865-1869
A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26253d1dccd04c2b12621b51313fa8d0
https://doi.org/10.1111/j.1528-1167.2010.02558.x
https://doi.org/10.1111/j.1528-1167.2010.02558.x
Autor:
Samuel F. Berkovic, Dileepa Diyagama, Leanne M. Dibbens, Andrew J. Holloway, Ingo Helbig, Lata Vadlamudi, Marta A. Bayly, Nicholas Matigian, Sharon M. Bain, Ingrid E. Scheffer, Nicholas K. Hayward, Kate M. Lawrence, John C. Mulley
Publikováno v:
Epilepsia. 49:1546-1554
To identify genes involved in idiopathic absence epilepsies by analyzing gene expression using a monozygotic (MZ) twin design.Genome-wide gene expression in lymphoblastoid cell lines (LCLs) was determined using microarrays derived from five discordan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac4afef424188c55fb614083b1de370e
https://doi.org/10.1111/j.1528-1167.2008.01630.x
https://doi.org/10.1111/j.1528-1167.2008.01630.x
Autor:
S. Yu, Sara Smith, Elizabeth Thompson, Drago Bratkovic, Sharon M. Bain, Jan Liebelt, R Buchheim, Kathryn Friend, K Cox
Publikováno v:
Clinical Genetics. 73:160-164
We report two familial cases of 22q11.2 duplication detected using multiplex ligation-dependent probe amplification (MLPA). In the first case, eight individuals from a three-generation family were found to carry a 3-Mb 22q11.2 duplication. The indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdaa537c0ebd7d96a79540a3d42ca36f
https://doi.org/10.1111/j.1399-0004.2007.00938.x
https://doi.org/10.1111/j.1399-0004.2007.00938.x
Autor:
Marleen Susman, Sharon M. Bain, Art Daniel, R. J McKinlay Gardner, Susan Clement Wilson, Daniel L. Van Dyke, Monica M. Wohlferd, Beverly J. White
Publikováno v:
Prenatal Diagnosis. 22:681-685
We present six cases of 47,+i(5p)/46 mosaicism diagnosed at chorionic villus sampling (CVS), this being the first prospective series to be reported. The clinical indication in each was advanced maternal age. Further prenatal studies in four (amniocen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceede4724016dc4c3479d61634a7e56
https://doi.org/10.1002/pd.379
https://doi.org/10.1002/pd.379
Autor:
Sharon M. Bain, Shanna Suwalski, David Ketteridge, Y.u. Sui, Chris Munt, Wendy Waters, Lesley M McGregor, Sue Brown, John C. Mulley, Kathryn Friend, Michael G. Harbord, Dierdre White, Eric Haan, Jillian Nicholl, John Entwistle, David Baulderstone, Christopher Barnett, Yvonne Hull, Elizabeth Thompson, Anthony Chitti, Jan Liebelt
Publikováno v:
Pathology. 46(1)
Summary The aim of this study was to determine prospectively the frequency of pathogenic chromosomal microdeletions and microduplications in a large group of referred patients with developmental delay (DD), intellectual disability (ID) or autism spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9a4ccbcd4bcce41ae4139a62fd29d2
https://pubmed.ncbi.nlm.nih.gov/24300712
https://pubmed.ncbi.nlm.nih.gov/24300712
Autor:
Tracy J. Wright, Marcy E. MacDonald, Grant R. Sutherland, Y. Y. Fang, David F. Callen, Helen J. Eyre, Olaf Riess, Sharon M. Bain, Eric Haan, Michael R. Altherr
Publikováno v:
American Journal of Medical Genetics. 71:453-457
Wolf-Hirschhorn syndrome (WHS) caused by 4p16.3 deletions comprises growth and mental retardation, distinct facial appearance and seizures. This study characterized a subtle interstitial deletion of 4p16.3 in a girl with mild retardation and possessi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b4bfca28f104758ad91793383e13baa
https://doi.org/10.1002/(sici)1096-8628(19970905)71:4<453::aid-ajmg15>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970905)71:4<453::aid-ajmg15>3.0.co
Autor:
Luba Kalaydjieva, Assen Jablensky, Bronte Gabb, Erica Woollatt, Reinhard Ullmann, David F. Callen, Sharon M. Bain, H.H. Ropers, Jozef Gecz, Kim W. Carter, David Chandler, Mark E. Cooper, Tod Fullston
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 156(2)
We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. A previously unreported balanced t(9;17)(q33.2;q25.3) translocation was observed in two schizophrenia-affected members of a smal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ddd37094c0d7b7887483d22b1c69721
https://pubmed.ncbi.nlm.nih.gov/21302349
https://pubmed.ncbi.nlm.nih.gov/21302349
Autor:
Emma L. Northrop, Howard R. Slater, Rhonda G. Hutchinson, Mark D. Pertile, Sharon M. Bain, Trudy Hocking, Susan M. White, Elizabeth Thompson, Helen J. Eyre, Jo K. Perry, Phung La, Sara Nouri, K. H. Andy Choo, S. Yu
Publikováno v:
American journal of medical genetics. Part A. 136(1)
Robertsonian translocations (RTs) are amongst the most common chromosome abnormalities, but being essentially balanced are not usually associated with phenotypic abnormality. Despite being dicentric, RTs are almost always transmitted stably through c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742320e5ff92795ad9f5bbe46abeb500
https://pubmed.ncbi.nlm.nih.gov/15889410
https://pubmed.ncbi.nlm.nih.gov/15889410
Publikováno v:
Cancer genetics and cytogenetics. 141(1)
The t(8;14)(q11.2;q32) is emerging as an uncommon, though recurrent cytogenetic finding. As of yet, too few cases of acute lymphoblastic leukemia (ALL) characterized by this translocation have been studied to determine its prognostic significance wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3758e669bdff0cd7e2f405f1e410782
https://pubmed.ncbi.nlm.nih.gov/12581891
https://pubmed.ncbi.nlm.nih.gov/12581891