IGNATIA VAN DEN VEYVER to Mutation
This is a "connection" page, showing publications IGNATIA VAN DEN VEYVER has written about Mutation.
Connection Strength
1.072
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DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. Genes (Basel). 2021 08 06; 12(8).
Score: 0.272
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Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7.
Score: 0.167
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A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan; 14(1):33-40.
Score: 0.105
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15.
Score: 0.087
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.069
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Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
Score: 0.063
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Maternal stress in Shank3ex4-9 mice increases pup-directed care and alters brain white matter in male offspring. PLoS One. 2019; 14(11):e0224876.
Score: 0.060
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Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet. 2018 11 01; 103(5):740-751.
Score: 0.056
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
Score: 0.045
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No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. Prenat Diagn. 2013 Dec; 33(13):1242-7.
Score: 0.039
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.
Score: 0.032
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Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring. Hum Reprod Update. 2006 May-Jun; 12(3):233-42.
Score: 0.023
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Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022 06; 42(7):811-821.
Score: 0.018
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Skewed X inactivation in X-linked disorders. Semin Reprod Med. 2001 Jun; 19(2):183-91.
Score: 0.017
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No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility. Hum Reprod. 2015 Jan; 30(1):232-8.
Score: 0.011
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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35.
Score: 0.005
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.004