Karen D Tsuchiya
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Explore the profile of Karen D Tsuchiya including associated specialties, affiliations and a list of published articles.
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33
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705
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Recent Articles
11.
Tsuchiya K, Davis B, Gardner R
Cancer Genet
. 2017 Nov;
218-219:10-14.
PMID: 29153092
Recurrent chromosomal abnormalities in childhood B-cell acute lymphoblastic leukemia (B-ALL) provide prognostic information that is useful in determining treatment stratification. iAMP21 is a more recently recognized cytogenetic entity of B-ALL...
12.
Chen L, Beck A, Tsuchiya K, Chow P, Mirzaa G, Wiester R, et al.
Pediatrics
. 2015 Feb;
135(3):e736-9.
PMID: 25687148
Single-nucleotide polymorphism arrays and other types of genetic tests have the potential to detect first-degree consanguinity and uncover parental rape in cases of minor teenage pregnancy. We present 2 cases...
13.
Delgado F, Tabor H, Chow P, Conta J, Feldman K, Tsuchiya K, et al.
Genet Med
. 2014 Sep;
17(5):400-4.
PMID: 25232848
Purpose: The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such...
14.
Kapur R, Berry J, Tsuchiya K, Opheim K
Pediatr Dev Pathol
. 2014 Feb;
17(2):75-84.
PMID: 24555441
Recurrent genetic alterations found in hepatic mesenchymal hamartoma include either androgenetic-biparental mosaicism or chromosomal rearrangements involving chromosome 19q13.4, in the vicinity of the chromosome 19q microRNA cluster (C19MC). Abnormal activation...
15.
Tsuchiya K
Clin Lab Med
. 2011 Nov;
31(4):525-42, vii-viii.
PMID: 22118735
This chapter presents past and present FISH techniques and specific applications of FISH. Although array technology has revolutionized cytogenetics, FISH remains indispensible. While array technology provides a high resolution screen...
16.
Xu M, Finn L, Tsuchiya K, Thomson B, Pollard J, Rutledge J
Pediatr Dev Pathol
. 2011 Sep;
15(1):76-8.
PMID: 21877942
Therapy-related acute myeloid leukemia is an unfortunate sequel to current multimodal intensive chemotherapy. The patient described was diagnosed with pure erythroleukemia, AML-M6b, during therapy for precursor B-cell acute lymphoblastic leukemia....
17.
Mascarello J, Hirsch B, Kearney H, Ketterling R, Olson S, Quigley D, et al.
Genet Med
. 2011 Jul;
13(7):667-75.
PMID: 21738013
This updated Section E9 has been incorporated into and supersedes the previous Section E9 in Section E: Clinical Cytogenetics of the 2008 Edition (Revised 02/2007) American College of Medical Genetics...
18.
Luo Y, Hermetz K, Jackson J, Mulle J, Dodd A, Tsuchiya K, et al.
Hum Mol Genet
. 2011 Jul;
20(19):3769-78.
PMID: 21729882
Chromosome rearrangements are a significant cause of intellectual disability and birth defects. Subtelomeric rearrangements, including deletions, duplications and translocations of chromosome ends, were first discovered over 40 years ago and...
19.
Brothman A, Dolan M, Goodman B, Park J, Persons D, Saxe D, et al.
Genet Med
. 2011 Jun;
13(9):765-9.
PMID: 21633292
Purpose: To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic copy number...
20.
Rosenfeld J, Lacassie Y, El-Khechen D, Escobar L, Reggin J, Heuer C, et al.
Eur J Med Genet
. 2010 Oct;
54(1):42-9.
PMID: 20951845
Microdeletions of 1q41q42 have recently been classified as a syndrome. Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, seizures, and short stature in...