Cormand B - Search Results

1

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

Talim B, Ferreiro A, Cormand B, Vignier N, Oto A, Göğüş S, Cila A, Lehesjoki AE, Pihko H, Guicheney P, Topaloğlu H. Talim B, et al. Among authors: cormand b. Neuromuscul Disord. 2000 Dec;10(8):548-52. doi: 10.1016/s0960-8966(00)00140-1. Neuromuscul Disord. 2000. PMID: 11053680

2

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Cormand B, et al. Am J Hum Genet. 1999 Jan;64(1):126-35. doi: 10.1086/302206. Am J Hum Genet. 1999. PMID: 9915951 Free PMC article.

3

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Cormand B, et al. Neurology. 2001 Apr 24;56(8):1059-69. doi: 10.1212/wnl.56.8.1059. Neurology. 2001. PMID: 11320179

4

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. de Bernabé DB, et al. Among authors: cormand b. J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. J Med Genet. 2003. PMID: 14627679 Free PMC article. No abstract available.

5

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Among authors: cormand b. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.

6

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. Diesen C, et al. Among authors: cormand b. J Med Genet. 2004 Oct;41(10):e115. doi: 10.1136/jmg.2004.020701. J Med Genet. 2004. PMID: 15466003 Free PMC article. No abstract available.

7

Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.

Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, Riikonen S, Ylikorkala O, Lehesjoki AE, Williamson C, Aittomäki K. Savander M, et al. Among authors: cormand b. Gut. 2003 Jul;52(7):1025-9. doi: 10.1136/gut.52.7.1025. Gut. 2003. PMID: 12801961 Free PMC article.

8

[Muscle-eye-brain disease. Presentation of one case with genetic study].

Pascual-Castroviejo I, Pascual-Pascual SI, Gutiérrez-Molina M, Saarinen A, Joensuu TH, Bayés M, Cormand B. Pascual-Castroviejo I, et al. Among authors: cormand b. Neurologia. 2005 Jun;20(5):261-6. Neurologia. 2005. PMID: 15954036 Spanish.

9

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. Rantamäki M, et al. Among authors: cormand b. Neurology. 2001 Sep 25;57(6):1043-9. doi: 10.1212/wnl.57.6.1043. Neurology. 2001. PMID: 11571332

10

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.

Sankila EM, Joensuu TH, Hämäläinen RH, Raitanen N, Valle O, Ignatius J, Cormand B. Sankila EM, et al. Among authors: cormand b. Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T. Hum Mutat. 2000. PMID: 10874321 No abstract available.

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