Cormand B - Search Results

1

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Díaz-Font A, et al. Among authors: cormand b. Hum Genet. 2003 Apr;112(4):426-9. doi: 10.1007/s00439-002-0894-0. Epub 2003 Feb 14. Hum Genet. 2003. PMID: 12589426

2

Gaucher disease in Spanish patients: analysis of eight mutations.

Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Cormand B, et al. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184

3

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Chabás A, et al. Among authors: cormand b. J Med Genet. 1995 Sep;32(9):740-2. doi: 10.1136/jmg.32.9.740. J Med Genet. 1995. PMID: 8544197 Free PMC article.

4

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Cormand B, et al. Hum Mutat. 1996;7(3):272-4. doi: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#. Hum Mutat. 1996. PMID: 8829663 No abstract available.

5

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.

Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Chabás A, et al. Among authors: cormand b. J Inherit Metab Dis. 1996;19(6):798-800. doi: 10.1007/BF01799179. J Inherit Metab Dis. 1996. PMID: 8982958 No abstract available.

6

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Cormand B, et al. Am J Med Genet. 1997 Jun 27;70(4):437-43. doi: 10.1002/(sici)1096-8628(19970627)70:4<437::aid-ajmg19>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9182788

7

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.

Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Cormand B, et al. Hum Genet. 1997 Jul;100(1):75-9. doi: 10.1007/s004390050468. Hum Genet. 1997. PMID: 9225972

8

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

Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Cormand B, et al. Hum Mutat. 1998;11(4):295-305. doi: 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6. Hum Mutat. 1998. PMID: 9554746

9

Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.

Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL. Cormand B, et al. Prenat Diagn. 1998 Mar;18(3):207-12. Prenat Diagn. 1998. PMID: 9556036

10

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

Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Cormand B, et al. Am J Med Genet. 1998 Dec 4;80(4):343-51. doi: 10.1002/(sici)1096-8628(19981204)80:4<343::aid-ajmg8>3.0.co;2-w. Am J Med Genet. 1998. PMID: 9856561 Review.

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