Mannens MM - Search Results

1

Mutations in ZBTB20 cause Primrose syndrome.

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: mannens mm. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102

2

Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization.

Speleman F, Mannens M, Redeker B, Vercruyssen M, Van Oostveldt P, Leroy J, Slater R. Speleman F, et al. Cytogenet Cell Genet. 1991;56(3-4):129-31. doi: 10.1159/000133068. Cytogenet Cell Genet. 1991. PMID: 2055105

3

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, et al. Fantes J, et al. Hum Mol Genet. 1995 Mar;4(3):415-22. doi: 10.1093/hmg/4.3.415. Hum Mol Genet. 1995. PMID: 7795596

4

Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification.

Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, Mannens M, Voûte PA, Westerveld A, Versteeg R. Caron H, et al. Nat Genet. 1993 Jun;4(2):187-90. doi: 10.1038/ng0693-187. Nat Genet. 1993. PMID: 8102298

5

Further delineation of the partial proximal trisomy 10q syndrome.

Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ. Aalfs CM, et al. Among authors: mannens mm. J Med Genet. 1995 Dec;32(12):968-71. doi: 10.1136/jmg.32.12.968. J Med Genet. 1995. PMID: 8825926 Free PMC article.

6

Comparative genomic hybridization analysis of Wilms tumors.

Steenman M, Redeker B, de Meulemeester M, Wiesmeijer K, Voûte PA, Westerveld A, Slater R, Mannens M. Steenman M, et al. Cytogenet Cell Genet. 1997;77(3-4):296-303. doi: 10.1159/000134602. Cytogenet Cell Genet. 1997. PMID: 9284942

7

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Bliek J, et al. Among authors: mannens mm. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

8

Identification of copy number variants associated with BPES-like phenotypes.

Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Gijsbers AC, et al. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

9

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. Huisman SA, et al. Among authors: mannens mm. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. J Med Genet. 2013. PMID: 23505322

10

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Among authors: mannens mm. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602

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