Search

Your search keyword '"Karbani, Gulshan"' showing total 15 results
Start Over Author "Karbani, Gulshan"
15 results on '"Karbani, Gulshan"'

1. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Author

Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, and Woods, C. Geoffrey

Published
2011
Full Text
View/download PDF

2. An SCN9A channelopathy causes congenital inability to experience pain

Author

Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., and Woods, C. Geoffrey

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): James J. Cox [1, 14]; Frank Reimann [2, 14]; Adeline K. Nicholas [1]; Gemma Thornton [1]; Emma Roberts [3]; Kelly Springell [3]; Gulshan Karbani [4]; Hussain Jafri [5]; Jovaria [...]

Published
2006
Full Text
View/download PDF

3. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Author

Woods, C. Geoffrey, McKibbin, Martin, Karbani, Gulshan, Cox, James, Stern, Rowena, Ahmed, Mustaq, Springell, Kelly, Raymond, F. Lucy, Bond, Jacquelyn, Hampshire, Daniel J., Sandford, Richard, Clayton, David, Mohamed, Moin D., Sharif, Saghira Malik, and Inglehearn, Chris F.

Subjects
Chromosome abnormalities -- Risk factors, Consanguinity -- Health aspects, Consanguinity -- Research, Dominance (Genetics) -- Research, Biological sciences
Abstract

The quantification of homozygosity in consanguineous individuals with autosomal recessive disease is presented. The data shows that prolonged parental inbreeding has led to a background level of homozygosity increased ~5% over and above that predicted by simple models of consanguinity.

Published
2006

4. Identification of microcephalin, a protein implicated in determining the size of the human brain

Author

Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., and Woods, C. Geoffrey

Subjects
Gene mutations -- Analysis, Microcephaly -- Genetic aspects, Fetal brain -- Abnormalities, Biological sciences
Published
2002

5. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Author

Jackson, Andrew P., McHale, Duncan P., Campbell, David A., Jafri, Hussain, Rashid, Yasmin, Mannan, Jovaria, Karbani, Gulshan, Corry, Peter, Levene, Malcom I., Mueller, Robert F., Markham, Alexander F., Lench, Nicholas J., and Woods, C. Geoffrey

Subjects
Chromosome mapping -- Usage, Genetic disorders -- Research, Microcephaly -- Genetic aspects, Biological sciences
Abstract

Primary, or true, autosomal recessive microcephaly (MCPH1) is inherited as an autosomal recessive trait and maps to chromosome 8p22-pter. It has been found to be genetically heterogeneous by analyzing nine consanguineous families with primary microcephaly. Two consanguineous families of Pakistani origin were studied in the identification of the genetic locus, MCPH1, between D8S1824 and D8S1825 using autozygosity mapping.

Published
1998

7. A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Author

Moynihan, Leanne, Jackson, Andrew P., Roberts, Emma, Karbani, Gulshan, Lewis, Ian, Corry, Peter, Turner, Gwen, Mueller, Robert F., Lench, Nicholas J., and Woods, C. Geoffrey

Subjects
Human genetics -- Research, Microcephaly -- Analysis, Mental retardation -- Causes of, Gene expression -- Research, Genetic markers -- Research, Genomes -- Research, Biological sciences
Published
2000

8. Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Author

Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional

Published
2015
Full Text
View/download PDF

9. Transcriptional regulator PRDM12 is essential for human pain perception

Author

Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional

Published
2015
Full Text
View/download PDF

11. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Author

Hamamy, Hanan, primary, Antonarakis, Stylianos E., additional, Cavalli-Sforza, Luigi Luca, additional, Temtamy, Samia, additional, Romeo, Giovanni, additional, Ten Kate, Leo P., additional, Bennett, Robin L., additional, Shaw, Alison, additional, Megarbane, Andre, additional, van Duijn, Cornelia, additional, Bathija, Heli, additional, Fokstuen, Siv, additional, Engel, Eric, additional, Zlotogora, Joel, additional, Dermitzakis, Emmanouil, additional, Bottani, Armand, additional, Dahoun, Sophie, additional, Morris, Michael A., additional, Arsenault, Steve, additional, Aglan, Mona S., additional, Ajaz, Mubasshir, additional, Alkalamchi, Ayad, additional, Alnaqeb, Dhekra, additional, Alwasiyah, Mohamed K., additional, Anwer, Nawfal, additional, Awwad, Rawan, additional, Bonnefin, Melissa, additional, Peter Corry, M.D., additional, Gwanmesia, Lorraine, additional, Karbani, Gulshan A., additional, Mostafavi, Maryam, additional, Pippucci, Tommaso, additional, Ranza-Boscardin, Emmanuelle, additional, Reversade, Bruno, additional, Sharif, Saghira M., additional, Teeuw, Marieke E., additional, and Bittles, Alan H., additional

Published
2011
Full Text
View/download PDF

13. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Author

Bond, Jacquelyn, primary, Roberts, Emma, additional, Springell, Kelly, additional, Lizarraga, Sophia, additional, Scott, Sheila, additional, Higgins, Julie, additional, Hampshire, Daniel J, additional, Morrison, Ewan E, additional, Leal, Gabriella F, additional, Silva, Elias O, additional, Costa, Suzana M R, additional, Baralle, Diana, additional, Raponi, Michela, additional, Karbani, Gulshan, additional, Rashid, Yasmin, additional, Jafri, Hussain, additional, Bennett, Christopher, additional, Corry, Peter, additional, Walsh, Christopher A, additional, and Woods, C Geoffrey, additional

Published
2005
Full Text
View/download PDF

14. Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Author

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, and Senderek J

Published
2015
Full Text
View/download PDF

15. Culture, attitude and knowledge about breast cancer and preventive measures: a qualitative study of South Asian breast cancer patients in the UK.

Author

Karbani G, Lim JN, Hewison J, Atkin K, Horgan K, Lansdown M, and Chu CE

Subjects
Adult, Aged, Asian People ethnology, Breast Neoplasms, Male diagnosis, Breast Self-Examination, Cultural Characteristics, Female, Humans, Male, Mass Screening methods, Middle Aged, Patient Acceptance of Health Care, Survival Rate, United Kingdom epidemiology, Attitude to Health ethnology, Breast Neoplasms diagnosis, Delayed Diagnosis, Health Knowledge, Attitudes, Practice ethnology
Abstract

Background: Little is known about the influence of culture and beliefs about breast cancer, and its implications on preventive health behaviour among South Asian people in the UK., Methods: Using a qualitative approach, 24 South Asian breast cancer patients and their significant others were interviewed., Results: Most patients were unfamiliar with the subject of cancer; they expressed lack of knowledge of cancer as a disease and its symptoms. They identified a painless lump in the breast as sign of abnormality, but not cancer. They also did not know any non-lump breast symptoms. Over half participated in breast screening after encouragement from daughters or relatives. Most did not practise breast self-examination. Perceptions of cancer and health behaviour were influenced by cultural beliefs. Common themes were cancer is a taboo subject and cancer is a stigma. Patients also expressed misunderstandings about the cause of cancer. Cancer in the family had ramifications on children' s marriage prospects and may cause marital breakdown. Terminology used also caused communication problems with healthcare professionals and within the family: the use of ' chest' to substitute ' breast' changed the meaning of the message conveyed., Conclusions: Cultural beliefs and practices accentuate difficulties in understanding breast cancer, breast screening and breast self-examination, and can prevent South Asian women from adopting preventive health practices.

Published
2011

Catalog

Books, media, physical & digital resources
See catalog results