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Stephanie L. Donahue
Stephanie L. Donahue
The Rogosin Institute, NYP-Cornell
Nessuna email verificata
Titolo
Citata da
Citata da
Anno
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing
AY Tan, A Michaeel, G Liu, O Elemento, J Blumenfeld, S Donahue, ...
The Journal of Molecular Diagnostics 16 (2), 216-228, 2014
752014
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease
YC Tan, JD Blumenfeld, R Anghel, S Donahue, R Belenkaya, M Balina, ...
Human mutation 30 (2), 264-273, 2009
752009
Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations
JA Kim, JD Blumenfeld, S Chhabra, SP Dutruel, ND Thimmappa, ...
Radiology 280 (3), 762-770, 2016
632016
A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene
YC Tan, A Michaeel, J Blumenfeld, S Donahue, T Parker, D Levine, ...
The Journal of Molecular Diagnostics 14 (4), 305-313, 2012
632012
Somatic mutations in renal cyst epithelium in autosomal dominant polycystic kidney disease
AY Tan, T Zhang, A Michaeel, J Blumenfeld, G Liu, W Zhang, Z Zhang, ...
Journal of the American Society of Nephrology 29 (8), 2139-2156, 2018
562018
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism
AY Tan, J Blumenfeld, A Michaeel, S Donahue, W Bobb, T Parker, ...
Clinical genetics 87 (4), 373-377, 2015
472015
Seminal megavesicle in autosomal dominant polycystic kidney disease
B Reig, J Blumenfeld, S Donahue, MR Prince
Clinical imaging 39 (2), 289-292, 2015
202015
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal‐dominant polycystic kidney disease
YC Tan, J Blumenfeld, A Michaeel, S Donahue, M Balina, T Parker, ...
Clinical genetics 80 (3), 287-292, 2011
182011
Relationship of seminal megavesicles, prostate median cysts, and genotype in autosomal dominant polycystic kidney disease
W Zhang, CJ Stephens, JD Blumenfeld, AH Behzadi, S Donahue, ...
Journal of Magnetic Resonance Imaging 49 (3), 894-903, 2019
132019
Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease
W Zhang, AY Tan, J Blumenfeld, G Liu, A Michaeel, T Zhang, ...
Cancer genetics 209 (1-2), 11-20, 2016
122016
Spleen phenotype in autosomal dominant polycystic kidney disease
X Yin, WK Prince, JD Blumenfeld, W Zhang, S Donahue, WO Bobb, ...
Clinical Radiology 74 (12), 975. e17-975. e24, 2019
112019
Cisterna chyli in autosomal dominant polycystic kidney disease
ND Thimmappa, JD Blumenfeld, MAC Cerilles, A Dunning, SL Donahue, ...
Journal of Magnetic Resonance Imaging 41 (1), 142-148, 2015
92015
Development and validation of a whole genome amplification long-range PCR sequencing method for ADPKD genotyping of low-level DNA samples
G Liu, AY Tan, A Michaeel, J Blumenfeld, S Donahue, W Bobb, T Parker, ...
Gene 550 (1), 131-135, 2014
92014
Genetic Testing of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Using Long-Range PCR and Next Generation Sequencing
Y Tan, A Michaeel, G Liu, J Blumenfeld, S Donahue, D Levine, T Parker, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 14 (6), 645-645, 2012
2012
Technical advance
YC Tan, A Michaeel, J Blumenfeld, S Donahue, T Parker, D Levine, ...
The Journal of Molecular Diagnostics 14 (4), 2012
2012
Development of a novel and rapid screening assay for detection of mutations in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Y Tan, J Blumenfeld, S Donahue, R Belenkaya, T Parker, D Levine, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 9 (5), 654-654, 2007
2007
Purpose: To assess how renal blood flow changes in autosomal-dominant polycystic kidney disease (ADPKD) and its correlation with renal parenchymal volume and function. Methods …
W Zhang, JD Blumenfeld, S Donahue, H Zhang, MR Prince
Purpose: To determine if women have more involvement with liver cysts in autosomal-dominant polycystic kidney disease (ADPKD). Methods: 135 patients (M: F= 54: 81, 19-83 years …
W Zhang, JD Blumenfeld, S Donahue, H Zhang, MR Prince
Crystal Structure of an Asymmetric Complex of Pyruvate Dehydrogenase Kinase 3 with Lipoyl Domain 2 and its Biological Implications
DG Vassylyev, J Symersky, K Niefind, CW Yde, I Ermakova, OG Issinger, ...
Seminal Vesicle Dilatation in Autosomal Dominant Polycystic Kidney Disease
B Reig, J Blumenfeld, S Donahue, W Zhang, MR Prince
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