Alders M - Search Results

1

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

Mellink CH, Alders M, van der Lelie H, Hennekam RH, Kuijpers TW. Mellink CH, et al. Among authors: alders m. Cancer Genet Cytogenet. 2004 Oct 15;154(2):144-9. doi: 10.1016/j.cancergencyto.2004.02.001. Cancer Genet Cytogenet. 2004. PMID: 15474150

2

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Kuijpers TW, et al. Among authors: alders m. Blood. 2005 Jul 1;106(1):356-61. doi: 10.1182/blood-2004-11-4371. Epub 2005 Mar 15. Blood. 2005. PMID: 15769891 Free article.

3

Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3.

Redeker E, Alders M, Hoovers JM, Richard CW 3rd, Westerveld A, Mannens M. Redeker E, et al. Among authors: alders m. Cytogenet Cell Genet. 1995;68(3-4):222-5. doi: 10.1159/000133917. Cytogenet Cell Genet. 1995. PMID: 7842740

4

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: alders m. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444

5

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM. Bliek J, et al. Among authors: alders m. Eur J Med Genet. 2009 Nov-Dec;52(6):404-8. doi: 10.1016/j.ejmg.2009.08.006. Epub 2009 Sep 6. Eur J Med Genet. 2009. PMID: 19735747

6

Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.

Alders M, Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M. Alders M, et al. Am J Hum Genet. 2000 May;66(5):1473-84. doi: 10.1086/302892. Epub 2000 Apr 10. Am J Hum Genet. 2000. PMID: 10762538 Free PMC article.

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: alders m. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

8

An integrated physical map of 210 markers assigned to the short arm of human chromosome 11.

Redeker E, Hoovers JM, Alders M, van Moorsel CJ, Ivens AC, Gregory S, Kalikin L, Bliek J, de Galan L, van den Bogaard R, et al. Redeker E, et al. Among authors: alders m. Genomics. 1994 Jun;21(3):538-50. doi: 10.1006/geno.1994.1312. Genomics. 1994. PMID: 7959730 Free article.

9

The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

Alders M, Hodges M, Hadjantonakis AK, Postmus J, van Wijk I, Bliek J, de Meulemeester M, Westerveld A, Guillemot F, Oudejans C, Little P, Mannens M. Alders M, et al. Hum Mol Genet. 1997 Jun;6(6):859-67. doi: 10.1093/hmg/6.6.859. Hum Mol Genet. 1997. PMID: 9175731

10

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Paolacci S, et al. Among authors: alders m. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15. J Med Genet. 2018. PMID: 30323018

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