Abidi, Fatima E. : rechercher sur Z-Library

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1

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

Annabel C. Whibley, Vincent Plagnol, Patrick S. Tarpey, Fatima Abidi, Tod Fullston, Maja K. Choma, Catherine A. Boucher, Lorraine Shepherd, Lionel Willatt, Georgina Parkin, Raffaella Smith, P. Andrew

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 372 KB

english, 2010

2

In vitro and in vivo Evaluation of the Antifungal Activity of APX001A/APX001 Against Candida auris

Hager, Christopher L., Larkin, Emily L., Long, Lisa, Abidi, Fatima Z., Shaw, Karen J., Ghannoum, Mahmoud A.

Journal:

Antimicrobial Agents and Chemotherapy

Année:

2018

Langue:

english

Fichier:

PDF, 586 KB

english, 2018

3

Cell fate changes induced by a Distal-less enhancer-trap transgene in the Drosophila antennal imaginal disc

Abidi, Syeda Nayab Fatima, Smith-Bolton, Rachel K.

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 3.07 MB

english, 2018

4

Redefining the Etiologic Landscape of Cerebellar Malformations

Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Ch

Journal:

The American Journal of Human Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.86 MB

english, 2019

5

Carpenter-Waziri syndrome results from a mutation in XNP

Abidi, Fatima, Schwartz, Charles E., Carpenter, Nancy J., Villard, Laurent, Font�s, Michel, Curtis, Mary

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 358 KB

english, 1999

6

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21

Abidi, Fatima, Hall, Bryan D., Cadle, Ronald G., Feldman, Gerald L., Lubs, Herbert A., Ouzts, Lizbeth V., Arena, J. Fernando, Stevenson, Roger E., Schwartz, Charles E.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 209 KB

english, 1999

7

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

Lubs, Herbert, Abidi, Fatima, Bier, Jo-Ann Blaymore, Abuelo, Diane, Ouzts, Lisbeth, Voeller, Kytja, Fennell, Eileen, Stevenson, Roger E., Schwartz, Charles E., Arena, Fernando

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 248 KB

english, 1999

8

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

Roger E. Stevenson, Fatima Abidi, Charles E. Schwartz, Herbert A. Lubs, Lewis B. Holmes

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 620 KB

english, 2000

9

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

Anne-Marie Lossi, Laurence Colleaux, Pierre Chiaroni, Michel Fontes, Laurent Villard, Fatima Abidi, Charles Schwartz, Sylvain Briault, Claude Moraine

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 56 KB

english, 2000

10

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Jean-Pierre Delaunoy, Fatima Abidi, Maria Zeniou, Sylvie Jacquot, Karine Merienne, Solange Pannetier, Michèle Schmitt, Charles E. Schwartz, André Hanauer

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 369 KB

english, 2001

11

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

Birgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, Peter P. De Deyn, Fatima E. Abidi, Charles E. Schwartz, R. Frank Kooy

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 90 KB

english, 2002

12

Lectin-binding assay by polyethylene glycol 8000

Fatima E. Abidi, Subal Bishayee, Bimal K. Bachhawat, Ranjan Bhadra

Journal:

Analytical Biochemistry

Année:

1987

Langue:

english

Fichier:

PDF, 873 KB

english, 1987

13

Confirmation ofFWT1as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable toFWT1

N. Rahman, Fatima Abidi, Deborah Ford, Laura Arbour, Elizabeth Rapley, Patricia Tonin, David Barton, Gillian Batcup, J. Berry, Finbarr Cotter, Val Davison, Mary Gerrard, Elizabeth Gray, Richard Grundy

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 119 KB

english, 1998

14

Evaluation of different sources of DNA for use in genome wide studies and forensic application

Habiba S. Al Safar, Fatima H. Abidi, Kamal A. Khazanehdari, Ian R. Dadour, Guan K. Tay

Journal:

Applied Microbiology and Biotechnology

Année:

2011

Langue:

english

Fichier:

PDF, 730 KB

english, 2011

15

Disruptions of the novelKIAA1202gene are associated with X-linked mental retardation

Olivier Hagens, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven, Maria Hoeltzenbein, Niels Tommerup, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Hans van Bokhoven, Jozef Gécz, Hélène

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 591 KB

english, 2006

16

Altered neurodevelopment associated with mutations ofRSK2: a morphometric MRI study of Coffin–Lowry syndrome

Shelli R. Kesler, Richard J. Simensen, Kytja Voeller, Fatima Abidi, Roger E. Stevenson, Charles E. Schwartz, Allan L. Reiss

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 144 KB

english, 2007

17

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Tarpey, Patrick S, Abidi, Fatima, Ramsden, Sarah L, Rujirabanjerd, Sinitdhorn, Murphy, Jessica A, Boyle, Jackie, Shaw, Marie, Gardner, Alison, Proos, Anne, Shoubridge, Cheryl

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 384 KB

english, 2010

18

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

Abidi, Fatima, Jacquot, Sylvie, Lassiter, Christopher, Trivier, Elizabeth, Hanauer, André, Schwartz, Charles E

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 199 KB

english, 1999

19

Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome

Abidi, Fatima E, Cardoso, Carlos, Lossi, Anne-Marie, Lowry, Robert Brian, Depetris, Danielle, Mattéi, Marie-Geneviève, Lubs, Herbert A, Stevenson, Roger E, Fontes, Michel, Chudley, Albert E

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 193 KB

english, 2004

20

Levels of some antioxidant molecules and lipid peroxidation during in vivo transformation of the progenetic metacercaria of Clinostomum complanatum to ovigerous adult worms

Asim Rizvi, Shirin Hasan, Maroof Alam, Atif Zafar, Tasneem Fatima, P.A.A. Shareef, Naheed Banu, M. Saleemuddin, Mohammad K. Saifullah, S. M.A. Abidi

Journal:

Veterinary Parasitology

Année:

2012

Langue:

english

Fichier:

PDF, 180 KB

english, 2012

21

1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones

Giuseppe Palmieri, Giovanna Romano, Amelia Casamassimi, Michele D'Urso, Randall D. Little, Fatima E. Abidi, David Schlessinger, Maria Lagerström, Helena Malmgren, Marie-Louise Steen-Bondeson, Ulf Pett

Journal:

Année:

1993

Fichier:

PDF, 398 KB

1993

22

Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel

Khalid Sossey-Alaoui, Jenifer A. Lyon, Latonya Jones, Fatima E. Abidi, Andrew J. Hartung, Bernhard Hane, Charles E. Schwartz, Roger E. Stevenson, Anand K. Srivastava

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 455 KB

english, 1999

23

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

Claus Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R. Frank Kooy, Herbert A. Lubs, Roger E. Stevenson, Juliane Ramser, Charles E. Schwartz

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 181 KB

english, 2004

24

Effect of different tetra pack juices on microhardness of direct tooth colored-restorative materials

Fatima, Nazish, Abidi, Syed Yawar Ali, Qazi, Fazal-Ur-Rehaman, Jat, Shahbaz Ahmed

Journal:

The Saudi Dental Journal

Année:

2013

Langue:

english

Fichier:

PDF, 277 KB

english, 2013

25

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2014

26

Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

Abidi, Fatima E., Wada, Morimasa, Little, Randall D., Schlessinger, David

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 3.58 MB

english, 1990

27

Yeast artificial chromosome-based genome mapping: Some lessons from Xq24–q28

Schlessinger, David, Little, Randy D., Freije, Diha, Abidi, Fatima, Zucchi, Ileana, Porta, Giovanni, Pilia, Giuseppe, Nagaraja, Ramaiah, Johnson, Sandra K., Yoon, Jae-Young

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.37 MB

english, 1991

28

Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells

D'Urso, Michele, Zucchi, Ileana, Ciccodicola, Alfredo, Palmieri, Giuseppe, Abidi, Fatima E., Schlessinger, David

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1990

29

Reversible Myocarditis after Black Widow Spider Envenomation

Dendane, Tarek, Abidi, Khalid, Madani, Naoufel, Benthami, Asmae, Gueddari, Fatima-Zohra, Abouqal, Redoune, Zeggwagh, Amine-Ali

Journal:

Case Reports in Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2012

30

Rapid, gentle and scalable method for dissociation and fluorescent sorting of imaginal disc cells for mRNA sequencing

Khan, Sumbul Jawed, Abidi, Syeda Nayab Fatima, Tian, Yuan, Skinner, Andrea, Smith-Bolton, Rachel K.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2016

31

Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

Peterson, Jess F., Bick, David P., Geddes, Gabrielle C., McCarrier, Julie, Grignon, John W., Chirempes, Brett, Broeckel, Ulrich, Abidi, Fatima, Rogers, Richard C., Boccuto, Luigi, DuPont, Barbara, van

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 711 KB

english, 2016

32

Sensitivity of mammalian equilibrative nucleoside transporters to NBMPR: Identification of an amino acid residue fundamental in sensitivity

Hyde, Ralph J., Abidi, Fatima, Griffiths, Mark, Yao, Sylvia Y.M., Sundaram, Manickavasagam, Phillips, Simon E.V., Cass, Carol E., Young, James D., Baldwin, Stephen A.

Journal:

Biochemical Society Transactions

Année:

2000

Langue:

english

Fichier:

PDF, 143 KB

english, 2000

33

Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta

GRIFFITHS, Mark, YAO, Y. M. Sylvia, ABIDI, Fatima, PHILLIPS, E. V. Simon, CASS, E. Carol, YOUNG, D. James, BALDWIN, A. Stephen

Journal:

Biochemical Journal

Année:

1997

Langue:

english

Fichier:

PDF, 360 KB

english, 1997

34

Nucleoside transporters in the mammalian heart

Booth, Zöe A., Abidi, Fatima, Ingram, Jean C., Musa, Hanny, Boyett, Mark R., Cass, Carol E., Young, James D., Baldwin, Stephen A.

Journal:

Biochemical Society Transactions

Année:

2000

Langue:

english

Fichier:

PDF, 143 KB

english, 2000

35

The Drosophila Duox maturation factor is a key component of a positive feedback loop that sustains regeneration signaling

Khan, Sumbul Jawed, Abidi, Syeda Nayab Fatima, Skinner, Andrea, Tian, Yuan, Smith-Bolton, Rachel K., Bosco, Giovanni

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 19.85 MB

english, 2017

36

Met-204 And Tyr-205 Are Together Important For Binding Glp-1 Receptor Agonists But Not Their N-Terminally Truncated Analogues

de Maturana, Rakel, Treece-Birch, Janet, Abidi, Fatima, Findlay, John, Donnelly, Dan

Journal:

Protein & Peptide Letters

Année:

2004

Langue:

english

Fichier:

PDF, 135 KB

english, 2004

37

Opuntioside, opuntiol and its metallic nanoparticles attenuate adjuvant-induced arthritis: Novel suppressors of Toll-like receptors -2 and -4

Roome, Talat, Aziz, Sabahat, Razzak, Anam, Aslam, Zara, Lubna,, Jamali, Khawar Saeed, Sikandar, Bushra, Fatima, Tehseen, Abidi, Lubna, Imran, Muhammad, Faizi, Shaheen, Shah, Muhammad Raza

Journal:

Biomedicine & Pharmacotherapy

Année:

2019

Langue:

english

Fichier:

PDF, 6.55 MB

english, 2019

38

HIV infection predominantly affecting children in Sindh, Pakistan, 2019: a cross-sectional study of an outbreak

Mir, Fatima, Mahmood, Faisal, Siddiqui, Amna Rehana, Baqi, Shehla, Abidi, Syed Hani, Kazi, Abdul Momin, Nathwani, Apsara Ali, Ladhani, Amerta, Qamar, Farah Naz, Soofi, Sajid Bashir, Memon, Sikander Al

Journal:

The Lancet Infectious Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 894 KB

english, 2019

39

HIV infection predominantly affecting children in Sindh, Pakistan, 2019: a cross-sectional study of an outbreak

Mir, Fatima, Mahmood, Faisal, Siddiqui, Amna Rehana, Baqi, Shehla, Abidi, Syed Hani, Kazi, Abdul Momin, Nathwani, Apsara Ali, Ladhani, Amerta, Qamar, Farah Naz, Soofi, Sajid Bashir, Memon, Sikander Al

Journal:

The Lancet Infectious Diseases

Année:

2019

Fichier:

PDF, 894 KB

2019