Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Catherine D. Kashork"'
Publikováno v:
Annals of the New York Academy of Sciences. 883(1)
Charcot-Marie-Tooth disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1: 2500 persons affected. CMT1A is caused by a submicroscopic duplication in 17p12. Several methods exist for determining a diagnosis in an indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97360bbb2de56ec1ef0998d8b93dbcfd
https://pubmed.ncbi.nlm.nih.gov/29086957
https://pubmed.ncbi.nlm.nih.gov/29086957
Autor:
Rebecca L. Bartles, Lynda Baxter, Margret Oethinger, Lian Wang, Jack Brandabur, Catherine D. Kashork, James E. Leggett, Shannan Hove
Publikováno v:
Gastrointestinal Endoscopy. 88:306-313.e2
In a pilot study, we demonstrated that current guidelines for duodenoscope and linear echoendoscope (DLE) reprocessing using a single cycle of high-level disinfection (HLD) in an automated reprocessor may be inadequate. In August 2015, the U.S. Food
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2363cc047e32913a29ce79ce6b54342
https://doi.org/10.1016/j.gie.2018.02.016
https://doi.org/10.1016/j.gie.2018.02.016
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:
Clinical Genetics. 64:310-316
Monosomy 1p36 is a relatively common chromosome deletion. Deletion of this chromosome band can be difficult to visualize using routine cytogenetic banding techniques. The use of fluorescence in situ hybridization (FISH) with telomere region-specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76d5097fae1cd8f2e45e19f0963ec404
https://doi.org/10.1034/j.1399-0004.2003.00126.x
https://doi.org/10.1034/j.1399-0004.2003.00126.x
Publikováno v:
Human Molecular Genetics. 12:2153-2165
Terminal deletions of 1p36 result in a mental retardation syndrome that is presumably caused byhaploinsufficiency of a number of genes. Although monosomy 1p36 is the most commonly observedterminal deletion syndrome in humans, the molecular mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f6b4c94c5bf15af18088532046e262
https://doi.org/10.1093/hmg/ddg231
https://doi.org/10.1093/hmg/ddg231
Autor:
Carlos A. Bacino, Stuart K. Shapira, Heidi A. Heilstedt, Lisa G. Shaffer, Samuel Stal, Catherine D. Kashork, Richard A. Lewis, Leslie A. Howard, Blake C. Ballif
Publikováno v:
The American Journal of Human Genetics. 72:1200-1212
Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by haploinsufficiency of a number of genes. We have constructed a contig of overlapping large-insert clones for the most distal 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a128b6e482aee8fce86b8ae012f3bc6f
https://doi.org/10.1086/375179
https://doi.org/10.1086/375179
Autor:
Marisa L. Likhite, Lorraine Potocki, William E. O'Brien, V. Reid Sutton, Lisa G. Shaffer, Deborah E. Schmidt, Jill Fonda Allen, Catherine D. Kashork
Publikováno v:
Prenatal Diagnosis. 22:1028-1032
It has been previously reported that a low or absent maternal serum unconjugated estriol (uE3) level is associated with placental steroid sulfatase (STS) deficiency. Here we report a correlation between patients who present with a very low or absent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::649672f6fe77d65dd9358f4035981c1f
https://doi.org/10.1002/pd.466
https://doi.org/10.1002/pd.466
Publikováno v:
American Journal of Medical Genetics. 112:23-27
The recent development of a set of chromosome-specific, subtelomeric probes has proved useful in diagnosis and recurrence risk counseling of patients and families with mental retardation and in further characterization of known chromosomal abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f57872dd22d607436822cee9e56b310
https://doi.org/10.1002/ajmg.10703
https://doi.org/10.1002/ajmg.10703
Autor:
Catherine D. Kashork, André Mégarbané, Bassem A. Bejjani, Martine Le Merrer, Sélim Jambart, Lisa G. Shaffer, Noëlle Souraty
Publikováno v:
American Journal of Medical Genetics. 108:69-74
Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, crypto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03e431c0315168240811476f9ee57171
https://doi.org/10.1002/ajmg.10222
https://doi.org/10.1002/ajmg.10222
Autor:
Catherine D. Kashork, Daniel L. Burgess, David E. Starkey, Barry R. Tharp, Aziza Chedrawi, Anne E. Anderson, Olivia Lee, Jeffrey L. Noebels, Yuan-Qing Wu, Stuart K. Shapira, Heidi A. Heilstedt, Lisa G. Shaffer
Publikováno v:
Epilepsia. 42:1103-1111
Summary: Purpose: Clinical features associated with chromosome 1p36 deletion include characteristic craniofacial abnormalities, mental retardation, and epilepsy. The presence and severity of specific phenotypic features are likely to be correlated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e674ff0be1a69e1276123926ac332c3
https://doi.org/10.1046/j.1528-1157.2001.08801.x
https://doi.org/10.1046/j.1528-1157.2001.08801.x