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Katherine Klinger
Katherine Klinger
Verified email at sanofi.com
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Year
Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells
DP Rich, MP Anderson, RJ Gregory, SH Cheng, S Paul, DM Jefferson, ...
Nature 347 (6291), 358-363, 1990
8191990
FinnGen provides genetic insights from a well-phenotyped isolated population
MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, KM Donner, ...
Nature 613 (7944), 508-518, 2023
8072023
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1
J Carpten, N Nupponen, S Isaacs, R Sood, C Robbins, J Xu, M Faruque, ...
Nature genetics 30 (2), 181-184, 2002
6862002
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
DW Bianchi, JL Simpson, LG Jackson, S Elias, W Holzgreve, MI Evans, ...
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2002
5582002
PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies
DW Bianchi, JM Williams, LM Sullivan, FW Hanson, KW Klinger, ...
The American Journal of Human Genetics 61 (4), 822-829, 1997
5501997
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
MS Watson, GR Cutting, RJ Desnick, DA Driscoll, K Klinger, M Mennuti, ...
Genetics in medicine 6 (5), 387-391, 2004
5342004
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
WW Grody, GR Cutting, KW Klinger, CS Richards, MS Watson, ...
Genetics in medicine 3 (2), 149-154, 2001
5112001
Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
B Richards, J Skoletsky, AP Shuber, R Balfour, RC Stern, HL Dorkin, ...
Human molecular genetics 2 (2), 159-163, 1993
4741993
Expression and characterization of the cystic fibrosis transmembrane conductance regulator
RJ Gregory, SH Cheng, DP Rich, J Marshall, S Paul, K Hehir, ...
Nature 347 (6291), 382-386, 1990
4711990
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
K Klinger, G Landes, D Shook, R Harvey, L Lopez, P Locke, T Lerner, ...
American journal of human genetics 51 (1), 55, 1992
4231992
Polycystin 1 is required for the structural integrity of blood vessels
K Kim, I Drummond, O Ibraghimov-Beskrovnaya, K Klinger, MA Arnaout
Proceedings of the National Academy of Sciences 97 (4), 1731-1736, 2000
3802000
Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry
JO Price, S Elias, SS Wachtel, K Klinger, M Dockter, A Tharapel, ...
American journal of obstetrics and gynecology 165 (6), 1731-1737, 1991
3631991
FinnGen: Unique genetic insights from combining isolated population and national health register data
MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ...
MedRxiv, 2022.03. 03.22271360, 2022
3572022
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
MA Passini, J Bu, EM Roskelley, AM Richards, SP Sardi, CR O’Riordan, ...
The Journal of clinical investigation 120 (4), 1253-1264, 2010
3452010
Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens.
BE Ward, SL Gersen, MP Carelli, NM McGuire, WR Dackowski, ...
American journal of human genetics 52 (5), 854, 1993
3351993
Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction.
GT Horn, B Richards, KW Klinger
Nucleic Acids Research 17 (5), 2140, 1989
3281989
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine
NO Bukanov, LA Smith, KW Klinger, SR Ledbetter, ...
Nature 444 (7121), 949-952, 2006
3182006
Alterations in vascular gene expression in invasive breast carcinoma
BS Parker, P Argani, BP Cook, H Liangfeng, SD Chartrand, M Zhang, ...
Cancer research 64 (21), 7857-7866, 2004
2752004
Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein
O Ibraghimov-Beskrovnaya, WR Dackowski, L Foggensteiner, N Coleman, ...
Proceedings of the National Academy of Sciences 94 (12), 6397-6402, 1997
2611997
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
TJ Watnick, VE Torres, MA Gandolph, F Qian, LF Onuchic, KW Klinger, ...
Molecular cell 2 (2), 247-251, 1998
2431998
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