Frees, Kathy L. : rechercher sur Z-Library

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1

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Tara K. Maga, Carla J. Nishimura, Amy E. Weaver, Kathy L. Frees, Richard J.H. Smith

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 199 KB

english, 2010

2

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Shearer, A. Eliot, Eppsteiner, Robert W., Frees, Kathy, Tejani, Viral, Sloan-Heggen, Christina M., Brown, Carolyn, Abbas, Paul, Dunn, Camille, Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J.H.

Journal:

Hearing Research

Année:

2017

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2017

3

Exclusion ofIfaandIfbas theLpsgene and mapping of three markers near theLpslocus

Stacia Peiffer-Schneider, Brian C. Schutte, Jeffrey C. Murray, Kathy L. Frees, Kimberly Williamson, Nancy J. Leysens, David A. Schwartz

Journal:

Mammalian Genome

Année:

1997

Langue:

english

Fichier:

PDF, 76 KB

english, 1997

4

10.1038/76048

Schwartz, David A., Arbour, Nancy C., Lorenz, Eva, Schutte, Brian C., Zabner, Joseph, Kline, Joel N., Jones, Michael, Frees, Kathy, Watt, Janet L.

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 966 KB

english, 2000

5

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

Crovetto, Francesca, Borsa, Nicolò, Acaia, Barbara, Nishimura, Carla, Frees, Kathy, Smith, Richard J. H., Peyvandi, Flora, Palla, Roberta, Cugno, Massimo, Tedeschi, Silvana, Castorina, Pierangela, Som

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 606 KB

english, 2012

6

Relevance of Mutations in the TLR4 Receptor in Patients With Gram-Negative Septic Shock

Lorenz, Eva, Mira, Jean Paul, Frees, Kathy L., Schwartz, David A.

Journal:

Archives of Internal Medicine

Année:

2002

Langue:

english

Fichier:

PDF, 92 KB

english, 2002

7

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila,

Journal:

Journal of Medical Genetics

Année:

2015

Fichier:

PDF, 917 KB

2015

8

Compartmentalization of the Inflammatory Response to Inhaled Grain Dust

BECKER, SUSANNE, CLAPP, WILLIAM A., QUAY, JACQUELINE, FREES, KATHY L., KOREN, HILLEL S., SCHWARTZ, DAVID A.

Journal:

American Journal of Respiratory and Critical Care Medicine

Année:

1999

Langue:

english

Fichier:

PDF, 304 KB

english, 1999

9

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila,

Journal:

Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 917 KB

english, 2015

10

Clinical Relevance of Cellular Mediators of Inflammation in Workers Exposed to Asbestos

Schwartz, David A., Galvin, Jeffrey R., Frees, Kathy L., Dayton, Charles S., Burmeister, Leon F., Merchant, James A., Hunninghake, Gary W.

Journal:

American Review of Respiratory Disease

Année:

1993

Langue:

english

Fichier:

PDF, 758 KB

english, 1993

11

Grain Dust and Endotoxin Inhalation Challenges Produce Similar Inflammatory Responses in Normal Subjects

Jagielo, Paul J., Thorne, Peter S., Watt, Janet L., Frees, Kathy L., Quinn, Timothy J., Schwartz, David A.

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 4.11 MB

english, 1996

12

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ran

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 529 KB

english, 2016

13

The Effect of Glucocorticoids on Grain Dust-Induced Airway Disease

Trapp, John F., Watt, Janet L., Frees, Kathy L., Quinn, Timothy J., Nonnenmann, Matthew W., Schwartz, David A.

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 4.36 MB

english, 1998

14

Memorials

Graebner, Robert J., Levshin, A.L., White, J.E., Robertson, Herbert, Zugravescu, Dorel, Nabighian, Misac, Ringstad, Clyde, Troost, Kathy, Free, Ron

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 189 KB

english, 1994

15

The Effects of Inhalation of Grain Dust Extract and Endotoxin on Upper and Lower Airways

Clapp, William D., Thome, Peter S., Frees, Kathy L., Zhang, Xiaouji, Lux, Cheri R., Schwartz, David A.

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 1.47 MB

english, 1993

16

Unraveling the role of the glomerular glycomatrix in C3 glomerulopathy

Hauer, Jill, Bu, Fengxiao, Xiao, Xue, Frees, Kathy, Borsa, Nico Ghiringhelli, Taylor, Amanda, Breheny, Patrick, Schnieders, Michael, Nester, Carla, Smith, Richard

Journal:

Molecular Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 47 KB

english, 2017

17

Exonic mutations and exon skipping: Lessons learned from DFNA5

Booth, Kevin T, Azaiez, Hela, Kahrizi, Kimia, Wang, Donghong, Zhang, Yuzhou, Frees, Kathy, Nishimura, Carla, Najmabadi, Hossein, Smith, Richard J

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2017

18

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

Shearer, A. Eliot, Frees, Kathy, Kolbe, Diana L., Smith, Richard J. H.

Journal:

Otolaryngology - Head and Neck Surgery

Année:

2018

Langue:

english

Fichier:

PDF, 208 KB

english, 2018

19

Genes other than TLR4 are involved in the response to inhaled LPS

Lorenz, Eva, Jones, Michael, Wohlford-Lenane, Christine, Meyer, Nicole, Frees, Kathy L., Arbour, Nancy C., Schwartz, David A.

Journal:

American journal of physiology. Lung cellular and molecular physiology

Année:

2001

Langue:

english

Fichier:

PDF, 174 KB

english, 2001

20

Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy

Ravindran, Aishwarya, Smith, Richard J H, Fervenza, Fernando, Bu, Fengxiao, Borsa, Nicolo, Zhang, Yuzhou, Jones, Michael, Bierer, Amanda, Meyer, Nicole, Frees, Kathy, Weaver, Amy, Nester, Carla, Sethi

Journal:

American Journal of Clinical Pathology

Année:

2018

Langue:

english

Fichier:

PDF, 97 KB

english, 2018

21

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

Bu, Fengxiao, Zhang, Yuzhou, Wang, Kai, Borsa, Nicolo Ghiringhelli, Jones, Michael B., Taylor, Amanda O., Takanami, Erika, Meyer, Nicole C., Frees, Kathy, Thomas, Christie P., Nester, Carla, Smith, Ri

Journal:

Journal of the American Society of Nephrology

Année:

2018

Langue:

english

Fichier:

PDF, 773 KB

english, 2018

22

Determination of the TLR4 Genotype Using Allele-Specific PCR

Lorenz, Eva, Frees, Kathy L., Schwartz, David A.

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 39 KB

english, 2001

23

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamh

Journal:

Ophthalmic Genetics

Année:

2020

Fichier:

PDF, 1.16 MB

2020

24

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

Walls, W. Daniel, Moteki, Hideaki, Thomas, Taylor R., Nishio, Shin-ya, Yoshimura, Hidekane, Iwasa, Yoichiro, Frees, Kathy L., Nishimura, Carla J., Azaiez, Hela, Booth, Kevin T., Marini, Robert J., Kol

Journal:

Année:

2020

Fichier:

PDF, 2.82 MB

2020

25

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Booth, Kevin T., Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T., Hussain, Mureed, Frees, Kathy, Renkes, Erika M., Nishimura, Carla J., Shahzad, Mohsin, Smith, Richard J., Ahmed, Zubair, Azaiez, Hela

Journal:

Année:

2020

Fichier:

PDF, 3.60 MB

2020