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There are 1631 results for: content related to: Mutations causing gaucher disease

  1. Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation

    American Journal of Medical Genetics

    Volume 80, Issue 4, 4 December 1998, Pages: 343–351, Bru Cormand, Theresa L. Harboe, Laura Gort, Cristina Campoy, Mariana Blanco, Néstor Chamoles, Amparo Chabás, Lluïsa Vilageliu and Daniel Grinberg

    Article first published online : 15 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

  2. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value

    Human Mutation

    Volume 10, Issue 5, 1997, Pages: 348–358, Rolf G. Boot, Carla E. M. Hollak, Marri Verhoek, Paul Sloof, Ben J. H. M. Poorthuis, Wim J. Kleijer, Ron A. Wevers, Marinus H. J. van Oers, Marcel M. A. M. Mannens, Johannes M. F. G. Aerts and Sonja van Weely

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B

  3. RecTL: A complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease

    American Journal of Medical Genetics

    Volume 50, Issue 1, 1 March 1994, Pages: 74–78, Ari Zimran and Mia Horowitz

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320500116

  4. Gaucher disease paradigm: From ERAD to comorbidity

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1398–1407, Inna Bendikov-Bar and Mia Horowitz

    Article first published online : 11 JUN 2012, DOI: 10.1002/humu.22124

  5. You have free access to this content
    Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

    Human Mutation

    Volume 20, Issue 3, September 2002, Pages: 234–235, Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, Marco Seri, Fiorina Giona, Giancarlo Parenti, Stefano Regis, Fabio Corsolini, Stefania Zoboli and Rosanna Gatti

    Article first published online : 21 AUG 2002, DOI: 10.1002/humu.9058

  6. Mutation analysis of Gaucher disease using dot-blood samples on FTA® filter paper

    American Journal of Medical Genetics

    Volume 94, Issue 5, 23 October 2000, Pages: 417–420, Natalie C. Devost and Francis Y.M. Choy

    Article first published online : 19 OCT 2000, DOI: 10.1002/1096-8628(20001023)94:5<417::AID-AJMG14>3.0.CO;2-W

  7. Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

    Human Mutation

    Volume 11, Issue 4, 1998, Pages: 295–305, Bru Cormand, Daniel Grinberg, Laura Gort, Amparo Chabás and Lluïsa Vilageliu

    Article first published online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6

  8. 55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles

    American Journal of Medical Genetics

    Volume 66, Issue 3, 18 December 1996, Pages: 316–319, N. Tayebi, H. Stern, I. Dymarskaia, J. Herman and E. Sidransky

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P

  9. Glucocerebrosidase (Gaucher disease)

    Human Mutation

    Volume 8, Issue 3, 1996, Pages: 207–213, Ernest Beutler and Terri Gelbart

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6

  10. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

    Clinical Genetics

    Volume 45, Issue 6, June 1994, Pages: 298–300, L. Lacerda, O. Amaral, R. Pinto, P. Oliveira, J. Aerts and M. C. Sá Miranda

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb04034.x

  11. A rare G6490 [RIGHTWARDS ARROW] substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients

    Clinical Genetics

    Volume 48, Issue 3, September 1995, Pages: 123–127, Marco Seri, Mirella Filocamo, Fabio Corsolini, Bruno Bembi, Cristiana Barbara and Rosanna Gatti

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04070.x

  12. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

    Human Mutation

    Volume 12, Issue 4, 1998, Pages: 240–244, Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Searl Legum, Ruth Shomrat, Hannah Yeger, Dalit Benbenisti, Ruth Navon, Vardit Dror, Mordechai Shohat, Nurit Magal, Nir Navot and Nurit Eyal

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J

  13. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

    Movement Disorders

    Volume 27, Issue 3, March 2012, Pages: 393–399, Núria Setó-Salvia, Javier Pagonabarraga, Henry Houlden, Berta Pascual-Sedano, Oriol Dols-Icardo, Arianna Tucci, Coro Paisán-Ruiz, Antonia Campolongo, Sofía Antón-Aguirre, Inés Martín, Laia Muñoz, Enric Bufill, Lluïsa Vilageliu, Daniel Grinberg, Mónica Cozar, Rafael Blesa, Alberto Lleó, John Hardy, Jaime Kulisevsky and Jordi Clarimón

    Article first published online : 15 DEC 2011, DOI: 10.1002/mds.24045

  14. Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

    American Journal of Medical Genetics

    Volume 99, Issue 2, 1 March 2001, Pages: 147–151, J.K. Park, V. Koprivica, D.Q. Andrews, V. Madike, N. Tayebi, D.L. Stone and E. Sidransky

    Article first published online : 5 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1144>3.0.CO;2-1

  15. Gaucher disease: A tale of two species

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 1, Issue 1, 1995, Pages: 79–86, Cindy E. McKinney, Ellen Sidransky, Mary E. Lamarca, Isabelle Riviere, Walter M. Holleran, Brian M. Martin, Rob Willemsen, Richard C. Mulligan and Edward I. Ginns

    Article first published online : 1 JUN 2005, DOI: 10.1002/mrdd.1410010114

  16. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

    Human Mutation

    Volume 15, Issue 2, February 2000, Pages: 181–188, Deborah L. Stone, Nahid Tayebi, Eduard Orvisky, Barbara Stubblefield, Victor Madike and Ellen Sidransky

    Article first published online : 25 JAN 2000, DOI: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S

  17. You have free access to this content
    Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

    Human Mutation

    Volume 14, Issue 1, 1999, Page: 88, Alfonso J. Sarria, Pilar Giraldo, Juan I. Perez-Calvo and Miguel Pocoví

    Article first published online : 1 JUL 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E

  18. Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

    American Journal of Medical Genetics

    Volume 71, Issue 2, 8 August 1997, Pages: 172–178, Francis Y. M. Choy, M. Lisa Humphries and HuiPing Shi

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970808)71:2<172::AID-AJMG10>3.0.CO;2-B

  19. Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1396–1403, Pilar Alfonso, Joaquín Navascués, Silvia Navarro, Pilar Medina, Alfonso Bolado-Carrancio, Vanesa Andreu, Pilar Irún, José Carlos Rodríguez-Rey, Miguel Pocoví, Francisco España and Pilar Giraldo

    Article first published online : 13 AUG 2013, DOI: 10.1002/humu.22381

  20. Gaucher disease in Spanish patients: Analysis of eight mutations

    Human Mutation

    Volume 5, Issue 4, 1995, Pages: 303–309, Bru Cormand, Lluïsa Vilageliu, José M. Burguera, Susana Balcells, Roser Gonzàlez-Duarte, Daniel Grinberg and Amparo Chabás

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380050406