Rumaisa Bashir: search on Z-Library

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1

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie

Journal:

Year:

2013

Language:

english

File:

PDF, 168 KB

english, 2013

2

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

José L. Jiménez, Rumaisa Bashir

Journal:

Journal of the Neurological Sciences

Year:

2007

Language:

english

File:

PDF, 1.73 MB

english, 2007

3

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

Rumaisa Bashir, Sharon Keers, Tom Strachan, Rita Passos-Bueno, Mayana Zatz, Jean Weissenbach, Denis Le Paslier, Miriam Meisler, Kate Bushby

Journal:

Year:

1996

Language:

english

File:

PDF, 272 KB

english, 1996

4

Impediments in foreign collaboration and conducting a high throughput molecular epidemiology research in India, an assessment from a feasibility study

Iqbal, Beenish, Shah, Idrees Ayoub, Bhat, Gulzar Ahmad, Bhat, Arshid Bashir, Rafiq, Rumaisa, Nabi, Sumaiya, Malekhzadeh, Reza, Abnet, Christian C, Boffetta, Paolo, Jenab, Mazda, Dar, Nazir Ahmad

Journal:

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

5

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

Inglehearn, Chris F., Carter, Simon A., Keen, T.Jeffery, Lindsey, Janet, Stephenson, Anthea M., Bashir, Rumaisa, Al-Maghtheh, May, Moore, Anthony T., Jay, Marcelle, Bird, Alan C.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 238 KB

1993

6

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

Ibrahim Mahjneh, Rumaisa Bashir, Sari Kiuru-Enari, Wim Linssen, Antti Lamminen, Marianne de Visser

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 509 KB

english, 2012

7

Linkage Analyses in British Pedigrees Suggest a Single Locus for Darier Disease and Narrow the Location to the Interval between D12S105 and D12S129

Simon A. Carter, Steven D. Bryce, Colin S. Munro, Eugene Healy, Rumaisa Bashir, Jean Weissenbach, Janine Leblanc-Straceski, Raju Kucherlapati, Anthea Stephenson, Jonathan L. Rees, Tom Strachan

Journal:

Year:

1994

File:

PDF, 233 KB

1994

8

Localisation of a gene for Darier's disease

Bashir, Rumaisa, Munro, Colin S., Mason, Susan, Stephenson, Anthea, Rees, Jonathan L., Strachan, Tom

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 254 KB

english, 1993

9

Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B

Pryank Patel, Richard Harris, Stella M. Geddes, Eugen-Matthias Strehle, James D. Watson, Rumaisa Bashir, Katharine Bushby, Paul C. Driscoll, Nicholas H. Keep

Journal:

Journal of Molecular Biology

Year:

2008

Language:

english

File:

PDF, 1.56 MB

english, 2008

10

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Vafiadaki, Elizabeth, Reis, Andre, Keers, Sharon, Harrison, Ruth, Anderson, Louise V. B., Raffelsberger, Thomas, Ivanova, Silva, Hoger, Harald, Bittner, Reginald E., Bushby, Kate, Bashir, Rumaisa

Journal:

Year:

2001

Language:

english

File:

PDF, 440 KB

english, 2001

11

Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol-related end-organ damage

Christopher P. Day, Rumaisa Bashir, Oliver F. W. James, Margaret F. Bassendine, David W. Crabb, Holly R. Thomasson, Ting-Kai Li, Howard J. Edenberg

Journal:

Year:

1991

Language:

english

File:

PDF, 516 KB

english, 1991

12

10.1038/13770

Bittner, Reginald E., Anderson, Louise V.B., Burkhardt, Elke, Bashir, Rumaisa, Vafiadaki, Elizabeth, Ivanova, Silva, Raffelsberger, Thomas, Maerk, Isabel, Höger, Harald, Jung, Martin, Karbasiyan, Mohs

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 305 KB

english, 1999

13

Dysferlin Deficiency Shows Compensatory Induction of Rab27A/Slp2a That May Contribute to Inflammatory Onset

Akanchha Kesari, Mitsunori Fukuda, Susan Knoblach, Rumaisa Bashir, Gustavo A. Nader, Deepak Rao, Kanneboyina Nagaraju, Eric P. Hoffman

Journal:

The American Journal of Pathology

Year:

2008

Language:

english

File:

PDF, 1.32 MB

english, 2008

14

10.1038/1689

Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 483 KB

english, 1998

15

A new distal myopathy with mutation in anoctamin 5

Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru-Enari, Rumaisa Bashir

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 771 KB

english, 2010

16

Aup1, a Novel Gene on Mouse Chromosome 6 and Human Chromosome 2p13

Wonhee Jang, John S. Weber, Rumaisa Bashir, Kate Bushby, Miriam H. Meisler

Journal:

Year:

1996

Language:

english

File:

PDF, 113 KB

english, 1996

17

The Third Human FER-1-like Protein Is Highly Similar to Dysferlin

Stephen Britton, Tom Freeman, Elizabeth Vafiadaki, Sharon Keers, Ruth Harrison, Kate Bushby, Rumaisa Bashir

Journal:

Year:

2000

Language:

english

File:

PDF, 424 KB

english, 2000

18

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

Inglehearn, Chris F., Keen, T. Jeffrey, Bashir, Rumaisa, Jay, Marcelle, Fitzke, Fred, C.Bird, Alan, Crombie, Alex, Bhattacharya, Shomi

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.07 MB

english, 1992

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