Francke U - Search Results

1

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Wan M, et al. Among authors: francke u. Am J Hum Genet. 1999 Dec;65(6):1520-9. doi: 10.1086/302690. Am J Hum Genet. 1999. PMID: 10577905 Free PMC article.

2

Multi-exon deletions of the FBN1 gene in Marfan syndrome.

Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. Liu W, et al. Among authors: francke u. BMC Med Genet. 2001;2:11. doi: 10.1186/1471-2350-2-11. Epub 2001 Oct 24. BMC Med Genet. 2001. PMID: 11710961 Free PMC article.

3

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

Lemahieu V, Gastier JM, Francke U. Lemahieu V, et al. Among authors: francke u. Hum Mutat. 1999;14(1):54-66. doi: 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E. Hum Mutat. 1999. PMID: 10447259

4

Is Rett syndrome caused by a triplet repeat expansion?

Hofferbert S, Schanen NC, Budden SS, Francke U. Hofferbert S, et al. Among authors: francke u. Neuropediatrics. 1997 Jun;28(3):179-83. doi: 10.1055/s-2007-973697. Neuropediatrics. 1997. PMID: 9266557

5

Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method.

Hofferbert S, Schanen NC, Chehab F, Francke U. Hofferbert S, et al. Among authors: francke u. Hum Mol Genet. 1997 Jan;6(1):77-83. doi: 10.1093/hmg/6.1.77. Hum Mol Genet. 1997. PMID: 9002673

6

Genetic heterogeneity in Laron syndrome.

Francke U, Berg MA. Francke U, et al. Acta Paediatr Suppl. 1993 Sep;82 Suppl 391:3-7; discussion 8. doi: 10.1111/j.1651-2227.1993.tb12916.x. Acta Paediatr Suppl. 1993. PMID: 8219474 Review. No abstract available.

7

Roberts syndrome: a review of 100 cases and a new rating system for severity.

Van Den Berg DJ, Francke U. Van Den Berg DJ, et al. Among authors: francke u. Am J Med Genet. 1993 Nov 15;47(7):1104-23. doi: 10.1002/ajmg.1320470735. Am J Med Genet. 1993. PMID: 8291532 Review.

8

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U. Lee SS, et al. Among authors: francke u. Brain Dev. 2001 Dec;23 Suppl 1:S138-43. doi: 10.1016/s0387-7604(01)00339-4. Brain Dev. 2001. PMID: 11738860

9

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U. Gastier JM, et al. Among authors: francke u. Hum Mutat. 2000 Oct;16(4):323-33. doi: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D. Hum Mutat. 2000. PMID: 11013443

10

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Schrijver I, et al. Among authors: francke u. Am J Hum Genet. 1999 Oct;65(4):1007-20. doi: 10.1086/302582. Am J Hum Genet. 1999. PMID: 10486319 Free PMC article.

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