M. Keddache : rechercher sur Z-Library

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1

Genotype–phenotype correlations in Rubinstein–Taybi syndrome

E.K. Schorry, M. Keddache, N. Lanphear, J.H. Rubinstein, S. Srodulski, D. Fletcher, R.I. Blough-Pfau, G.A. Grabowski

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 126 KB

english, 2008

2

Linkage analysis for autism in a subset families with obsessive–compulsive behaviors: Evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19

Buxbaum, J D, Silverman, J, Keddache, M, Smith, C J, Hollander, E, Ramoz, N, Reichert, J G

Journal:

Molecular Psychiatry

Année:

2003

Langue:

english

Fichier:

PDF, 146 KB

english, 2003

3

Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression

Molloy, C A, Keddache, M, Martin, L J

Journal:

Molecular Psychiatry

Année:

2005

Langue:

english

Fichier:

PDF, 122 KB

english, 2005

4

Assessing impacts of unconventional natural gas extraction on microbial communities in headwater stream ecosystems in Northwestern Pennsylvania

Trexler, Ryan, Solomon, Caroline, Brislawn, Colin J., Wright, Justin R., Rosenberger, Abigail, McClure, Erin E., Grube, Alyssa M., Peterson, Mark P., Keddache, Mehdi, Mason, Olivia U., Hazen, Terry C.

Journal:

Frontiers in Microbiology

Année:

2014

Langue:

english

Fichier:

PDF, 1.91 MB

english, 2014

5

Pneumonies aiguës communautaires du sujet âgé : profil clinique et évolutif

Jaafar, M., Keddache, N., Chabati, O., Gharnaout, M.

Journal:

Revue des Maladies Respiratoires

Année:

2017

Langue:

french

Fichier:

PDF, 50 KB

french, 2017

6

Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type

Martina Durner, Mehdi A. Keddache, Livia Tomasini, Shlomo Shinnar, Stanley R. Resor, Jeffrey Cohen, Cynthia Harden, Solomon L. Moshe, David Rosenbaum, Harriet Kang, Karen Ballaban-Gil, Sharon Hertz, D

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 203 KB

english, 2001

7

A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Susan D. Thompson, Marta B. Moroldo, Laura Guyer, Mary Ryan, Esther M. Tombragel, Edith S. Shear, Sampath Prahalad, Marc Sudman, Mehdi A. Keddache, W. Mark Brown, Edward H. Giannini, Carl D. Langefeld

Journal:

Arthritis & Rheumatism

Année:

2004

Langue:

english

Fichier:

PDF, 661 KB

english, 2004

8

The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1

Susan D. Thompson, Marc Sudman, Paula S. Ramos, Miranda C. Marion, Mary Ryan, Monica Tsoras, Tracey Weiler, Michael Wagner, Mehdi Keddache, J. Peter Haas, Cornelia Mueller, Sampath Prahalad, John Bohn

Journal:

Arthritis & Rheumatism

Année:

2010

Langue:

english

Fichier:

PDF, 170 KB

english, 2010

9

A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31

Donald L. Gilbert, Elizabeth J. Leslie, Mehdi Keddache, Nancy D. Leslie

Journal:

Movement Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 192 KB

english, 2009

10

Gaucher's disease: identification of novel mutant alleles and genotype–phenotype relationships

H Zhao, M Keddache, L Bailey, Gl Arnold, G Grabowski

Journal:

Clinical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 158 KB

english, 2003

11

Multiple interactions between the alpha2C- and beta1-adrenergic receptors influence heart failure survival

Sharon LR Kardia, Reagan J Kelly, Mehdi A Keddache, Bruce J Aronow, Gregory A Grabowski, Harvey S Hahn, Karen L Case, Lynne E Wagoner, Gerald W Dorn, Stephen B Liggett

Journal:

BMC Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 744 KB

english, 2008

12

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations

Lisa J. Martin, Vijaya Ramachandran, Linda H. Cripe, Robert B. Hinton, Gregor Andelfinger, Meredith Tabangin, Kerry Shooner, Mehdi Keddache, D. Woodrow Benson

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 412 KB

english, 2007

13

Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient

Adrienne M. Hammill, Mary A. Risinger, Clinton H. Joiner, Mehdi Keddache, Theodosia A. Kalfa

Journal:

British Journal of Haematology

Année:

2011

Langue:

english

Fichier:

PDF, 319 KB

english, 2011

14

Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies

Makishima, H, Jankowska, A M, Tiu, R V, Szpurka, H, Sugimoto, Y, Hu, Z, Saunthararajah, Y, Guinta, K, Keddache, M A, Putnam, P

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 639 KB

english, 2010

15

Response by Dr Molloy

Molloy, C A, Keddache, M, Martin, L

Journal:

Molecular Psychiatry

Année:

2006

Langue:

english

Fichier:

PDF, 47 KB

english, 2006

16

Fucosyltransferase 2 Non-Secretor and Low Secretor Status Predicts Severe Outcomes in Premature Infants

Ardythe L. Morrow, Jareen Meinzen-Derr, Pengwei Huang, Kurt R. Schibler, Tanya Cahill, Mehdi Keddache, Suhas G. Kallapur, David S. Newburg, Meredith Tabangin, Barbara B. Warner, Xi Jiang

Journal:

The Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 291 KB

english, 2011

17

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

Katherine D. Holland, Jennifer A. Kearney, Tracy A. Glauser, Gerri Buck, Mehdi Keddache, John R. Blankston, Ian W. Glaaser, Robert S. Kass, Miriam H. Meisler

Journal:

Neuroscience Letters

Année:

2008

Langue:

english

Fichier:

PDF, 391 KB

english, 2008

18

Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy

David A. Greenberg, Martina Durner, Mehdi Keddache, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sibylle Wallace, Daniel Luciano, K

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 413 KB

english, 2000

19

Fine Mapping of Loci Linked to Autoimmune Thyroid Disease Identifies Novel Susceptibility Genes

Tomer, Yaron, Hasham, Alia, Davies, Terry F., Stefan, Mihaela, Concepcion, Erlinda, Keddache, Mehdi, Greenberg, David A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 454 KB

english, 2013

20

374 Prospective genetic epidemiology of cognitive performance in the very old

L. Altstiel, R. Mohs, D. Marin, L. Lebow, X.-P. Yang, M. Keddache, D. Greenberg

Journal:

Neurobiology of Aging

Année:

1996

Langue:

english

Fichier:

PDF, 275 KB

english, 1996

21

O-20-8 - Prospective study of the effect of APOE genotype on cognitive performance in the very old

L. Altstiel, R. Mohs, D. Marin, L. Lebow, X-P Yang, M. Keddache, D. Greenberg

Journal:

European Neuropsychopharmacology

Année:

1996

Langue:

english

Fichier:

PDF, 144 KB

english, 1996

22

*401 Distribution and Significance of EZH2 Mutations in MDS and Related Myeloid Malignancies

Hideki Makishima, Anna Jankowska, Hadrian Szpurka, Alan List, Michael McDevitt, Kathryn Guinta, Mehdi A. Keddache, Christine O'Keefe, Mikkael A. Sekeres, Jaroslaw Maciejewski

Journal:

Clinical Lymphoma Myeloma and Leukemia

Année:

2011

Langue:

english

Fichier:

PDF, 128 KB

english, 2011

23

Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes

Leah C Kottyan, Jessica G Woo, Mehdi Keddache, Walter Banach…

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 237 KB

english, 2012

24

The TRPM4 non-selective cation channel contributes to the mammalian atrial action potential

Simard, Christophe, Hof, Thomas, Keddache, Zakia, Launay, Pierre, Guinamard, Romain

Journal:

Journal of Molecular and Cellular Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 975 KB

english, 2013

25

Apolipoprotein E allele ϵ4 in autopsy-confirmed Alzheimer's disease and cerebrovascular disease

Altstiel, L.D., Greenberg, D., Haroutunian, V, Perl, D.P., Keddache, M, Purohit, D.P., Yang, X-P, Mohs, R., Davis, K.L.

Journal:

Neurobiology of Aging

Année:

1994

Langue:

english

Fichier:

PDF, 171 KB

english, 1994

26

Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

Sivakumaran, T. A., Husami, A., Kissell, D., Zhang, W., Keddache, M., Black, A. P., Tinkle, B. T., Greinwald, J. H., Zhang, K.

Journal:

Otolaryngology - Head and Neck Surgery

Année:

2013

Langue:

english

Fichier:

PDF, 3.50 MB

english, 2013

27

Potocki-shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype

Ferrarini, Alessandra, Gaillard, Muriel, Guerry, Frederic, Ramelli, Gianpaolo, Heidi, Fodstad, Keddache, Caroline Verley, Wieland, Ilse, Beckmann, Jacques S., Jaquemont, Sébastien, Martinet, Danielle

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 438 KB

english, 2014

28

Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease

Huber, Amanda K., Concepcion, Erlinda S., Gandhi, Alisha, Menconi, Francesca, Smith, Eric P., Keddache, Mehdi, Tomer, Yaron

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 552 KB

english, 2011

29

Profil de l’asthme chez la femme ménopausée : à propos de 58 cas

Khelafi, R., Oussedik, F., Fezaa, K., Keddache, N., Benslama, W., Skander, F.

Journal:

Revue des Maladies Respiratoires

Année:

2015

Langue:

french

Fichier:

PDF, 56 KB

french, 2015

30

Whole Exome Sequencing for Familial Bicuspid Aortic Valve Identifies Putative Variants

Martin, L. J., Pilipenko, V., Kaufman, K. M., Cripe, L., Kottyan, L. C., Keddache, M., Dexheimer, P., Weirauch, M. T., Benson, D. W.

Journal:

Circulation Cardiovascular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 3.57 MB

english, 2014

31

Genetically Driven Target Tissue Overexpression of CD40: A Novel Mechanism in Autoimmune Disease

Huber, A. K., Finkelman, F. D., Li, C. W., Concepcion, E., Smith, E., Jacobson, E., Latif, R., Keddache, M., Zhang, W., Tomer, Y.

Journal:

The Journal of Immunology

Année:

2012

Langue:

english

Fichier:

PDF, 875 KB

english, 2012

32

IFN- Mediates the Development of Autoimmunity both by Direct Tissue Toxicity and through Immune Cell Recruitment Mechanisms

Akeno, N., Smith, E. P., Stefan, M., Huber, A. K., Zhang, W., Keddache, M., Tomer, Y.

Journal:

The Journal of Immunology

Année:

2011

Langue:

english

Fichier:

PDF, 2.17 MB

english, 2011

33

Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency

Namjou, B., Keddache, M., Fletcher, D., Dillon, S., Kottyan, L., Wiley, G., Gaffney, P., Wakeland, B., Liang, C., Wakeland, E., Scofield, R., Kaufman, K., Harley, J.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 323 KB

english, 2012

34

Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescent-onset generalized epilepsy

Greenberg, D. A., Durner, M., Shinnar, S., Resor, S., Rosenbaum, D., Klotz, I., Dicker, E., Keddache, M., Zhou, G., Yang, X., Altstiel, L.

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 858 KB

english, 1996

35

Serotonin 2c receptor RNA editing in major depression and suicide

Lyddon, Rebecca, Dwork, Andrew J., Keddache, Mehdi, Siever, Larry J., Dracheva, Stella

Journal:

The World Journal of Biological Psychiatry

Année:

2013

Langue:

english

Fichier:

PDF, 184 KB

english, 2013

36

Characterization of neuronopathic Gaucher disease among ethnic Poles

Tylki-Szymañska, Anna, Keddache, Mehdi, Grabowski, Gregory A

Journal:

Genetics in Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 490 KB

english, 2006

37

From single-SNP to wide-locus: genome-wide association studies identifying functionally related genes and intragenic regions in small sample studies

Wittkowski, Knut M, Sonakya, Vikas, Song, Tingting, Seybold, Martin P, Keddache, Mehdi, Durner, Martina

Journal:

Pharmacogenomics

Année:

2013

Langue:

english

Fichier:

PDF, 4.51 MB

english, 2013

38

Neuronopathic Gaucher Disease: Dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model

Dasgupta, Nupur, Xu, You-hai, Li, Ronghua, Peng, Yanyan, Pandey, Manoj K., Tinch, Stuart L., Liou, Benjamin, Inskeep, Venette, Zhang, Wujuan, Setchell, Kenneth D.R., Keddache, Mehdi, Grabowski, Gregor

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 3.79 MB

english, 2015

39

Genotypic and Phenotypic Correlations of DFNB1-Related Hearing Impairment in the Midwestern United States

Lim, Lynne H. Y., Bradshaw, John K., Guo, Yingshi, Pilipenko, Valentina, Madden, Colm, Ingala, David, Keddache, Mehdi, Choo, Daniel I., Wenstrup, Richard, Greinwald, John H.

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Année:

2003

Langue:

english

Fichier:

PDF, 90 KB

english, 2003

40

Mapping of a Major Susceptibility Locus for Graves’ Disease (GD-1) to Chromosome 14q31

Tomer, Yaron, Barbesino, Giuseppe, Keddache, Mehdi, Greenberg, David A., Davies, Terry F.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

1997

Langue:

english

Fichier:

PDF, 380 KB

english, 1997

41

MicroRNA activation signature in patients with hemophagocytic lymphohistiocytosis and reversibility with disease-specific therapy

Sumegi, Janos, Nestheide, Shawnagay, Aronow, Bruce, Fletcher, David, Keddache, Mehdi, Villanueva, Joyce, Zhang, Kejian, Filipovich, Alexandra H.

Journal:

Journal of Allergy and Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2015

42

Particularités des pneumothorax (PNO) spontanés secondaires

Noureddine, R., Jaafar, M., Ouledlaid, H., Keddache, N., Gharnaout, M.

Journal:

Revue des Maladies Respiratoires

Année:

2016

Langue:

french

Fichier:

PDF, 69 KB

french, 2016

43

Polymorphisms in the IBD5 Locus Are Associated With Crohn Disease in Pediatric Ashkenazi Jewish Patients

Tomer, Gitit, Wetzler, Graciela, Keddache, Mehdi, Denson, Lee A

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2009

Langue:

english

Fichier:

PDF, 567 KB

english, 2009

44

SPIE Proceedings [SPIE Medical Imaging 2000 - San Diego, CA (Saturday 12 February 2000)] Medical Imaging 2000: Image Perception and Performance - Comparison of two methods for evaluating image quality of chest radiographs

Herrmann, C., Sund, P, Tingberg, A, Keddache, S., Mansson, L.G., Almen, A., Mattsson, S., Krupinski, Elizabeth A.

Année:

2000

Langue:

english

Fichier:

PDF, 557 KB

english, 2000

45

Cognitive impairment is not influenced by α1-antichymotrypsin genotype in the very old

Durner, M., Greenberg, D. A., Keddache, M. A., Baum, E. C., Marin, D. B., Gabriel, S. M., Mohs, R. C.

Journal:

Psychiatric Genetics

Année:

1996

Fichier:

PDF, 152 KB

1996

46

Integrated Genomic Analysis of Diverse Induced Pluripotent Stem Cells from the Progenitor Cell Biology Consortium

Salomonis, Nathan, Dexheimer, Phillip J., Omberg, Larsson, Schroll, Robin, Bush, Stacy, Huo, Jeffrey, Schriml, Lynn, Ho Sui, Shannan, Keddache, Mehdi, Mayhew, Christopher, Shanmukhappa, Shiva Kumar, W

Journal:

Stem Cell Reports

Année:

2016

Langue:

english

Fichier:

PDF, 4.93 MB

english, 2016

47

Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy

Glauser, Tracy A., Holland, Katherine, O’Brien, Valerie P., Keddache, Mehdi, Martin, Lisa J., Clark, Peggy O., Cnaan, Avital, Dlugos, Dennis, Hirtz, Deborah G., Shinnar, Shlomo, Grabowski, Gregory

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 880 KB

english, 2017

48

Molecular, phenotypic, and sample-associated data to describe pluripotent stem cell lines and derivatives

Daily, Kenneth, Ho Sui, Shannan J., Schriml, Lynn M., Dexheimer, Phillip J., Salomonis, Nathan, Schroll, Robin, Bush, Stacy, Keddache, Mehdi, Mayhew, Christopher, Lotia, Samad, Perumal, Thanneer M., D

Journal:

Scientific Data

Année:

2017

Langue:

english

Fichier:

PDF, 929 KB

english, 2017

49

Foamy Virus Vector Carries a Strong Insulator in Its Long Terminal Repeat Which Reduces Its Genotoxic Potential

Goodman, Michael A., Arumugam, Paritha I., Pillis, Devin M., Loberg, Anastacia, Nasimuzzaman, Md, Lynn, Danielle, van der Loo, Johannes C.M., Dexheimer, Phillip J., Keddache, Mehdi, Bauer, Thomas R.,

Journal:

Journal of Virology

Année:

2017

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2017

50

Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase

Dasgupta, Nupur, Xu, You-Hai, Oh, Sunghee, Sun, Ying, Jia, Li, Keddache, Mehdi, Grabowski, Gregory A, Silman, Israel

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2013