Research Topics
Genomes and Genes | I B Van den VeyverSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patientsIvan J Delgado
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
BMC Med Genet 7:61. 2006....- Genetic effects of methylation dietsIgnatia B Van den Veyver
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Nutr 22:255-82. 2002.... - Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndromeI B Van den Veyver
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Brain Dev 23:S147-51. 2001..Our observation that the mutant mRNA is stable in three patients with truncating mutations supports this possibility. Further studies will have to be performed to better understand the functional consequences of MECP2 mutations in RTT... - The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3) is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnanciesI B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
J Soc Gynecol Investig 8:305-13. 2001..We analyzed the PEG3 gene for mutations in women with familial recurrent hydatidiform moles and to determine its imprinting status in humans... - Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspringI B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine, 1709 Dryden, Suite 1100, Houston, TX 77030, USA
Hum Reprod Update 12:233-42. 2006..Normal pregnancies interspersed with BiHM have been reported in some of the pedigrees, but affected women repeatedly attempting pregnancy should be counselled about the risk for invasive trophoblastic disease with each subsequent BiHM... - Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?I B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
Cytogenet Genome Res 99:289-96. 2002.... - Methyl-CpG-binding protein 2 mutations in Rett syndromeI B Van den Veyver
Department of Obstetrics and Gynecology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Curr Opin Genet Dev 10:275-9. 2000..Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype... - Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant miceT A Cormier
Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
Mamm Genome 12:796-8. 2001 - Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3S K Prakash
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 59:77-84. 1999..3 and was evaluated as a candidate gene for several developmental disorders mapping to this region, including OFD1 and SED tarda, as well as Aicardi syndrome and Goltz syndrome... - Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2R E Amir
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 23:185-8. 1999..This suggests that the mother is a germline mosaic for this mutation. Our study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT... - Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqterW Zhang
Howard Hughes Medical Institute, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 66:1461-4. 2000..A maximum LOD score of 3.16 at recombination fraction 0 was obtained for five markers mapping to Xq27.3-Xq28. The mapping data should facilitate the identification of the molecular basis of this disorder... - Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22I B Van den Veyver
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 51:251-61. 1998..FISH and hybridization to mouse YACs confirmed human and mouse synteny in the order of this gene and other genes in the MLS critical region; however, this gene spans the boundary of the pseudoautosomal region in mouse but not in humans... - A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform molesY C Kou
Department of Obstetrics and Gynecology, Baylor College of Medicine, One Baylor Plaza, Room 721E, Mailstop BCM225, Houston, TX 77030, USA
Mol Hum Reprod 14:33-40. 2008..Our findings firmly establish that NLRP7 mutations are a major cause of BiHM and confirm presence of a complex pattern of imprinting abnormalities in BiHM tissues... - Mutations in exon 1 of MECP2 are a rare cause of Rett syndromeR E Amir
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
J Med Genet 42:e15. 2005 - Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locusS K Prakash
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Calcif Tissue Int 77:23-9. 2005..However, an unusual layer of aprismatic enamel covers the enamel surface, which may be related to the 1.1-Mb deletion, which included Arhgap 6 in these mice... - Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndromeC A Bacino
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 94:102-12. 2000..quot; This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans... - Skewed X inactivation in X-linked disordersI B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
Semin Reprod Med 19:183-91. 2001..These features are important for the study and gene identification of X-linked disorders and for counseling of affected families... - Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndromeI B Van den Veyver
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet 78:179-81. 1998..No mutations were detected. The genomic characterization of this gene will allow us to perform mutation analysis for other inherited disorders linked to this region... - Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapyRuthie E Amir
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
J Child Neurol 20:779-83. 2005..In contrast, prenatal diagnosis should be offered to the parents of an affected child if the responsible mutation has been identified in the index case... - Genetic basis of Rett syndromeIgnatia B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
Ment Retard Dev Disabil Res Rev 8:82-6. 2002..Further research focuses on the pathogenic consequences of these mutations along the hypothesis of loss of transcriptional repression of a small number of genes that are essential for neuronal function in the maturing brain... - Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndromeSiddharth K Prakash
Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 11:3237-48. 2002..Through the study of these genetically engineered mice we demonstrate that loss of HCCS causes the male lethality of MLS syndrome... - Facial and physical features of Aicardi syndrome: infants to teenagersV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 138:254-8. 2005.... - Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysisPrisana C Panichkul
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
J Soc Gynecol Investig 12:376-83. 2005..0 Mb. CONCLUSIONS: The reported candidate region for BiCHM in 19q13.4 was confirmed in additional families, further establishing it as the major locus that harbors a gene mutated in this condition... - Presence of filamin in the astrocytic inclusions of Aicardi syndromeIgnatia B Van den Veyver
Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA
Pediatr Neurol 30:7-15. 2004..No mutations were found, and the full-length protein was expressed in both brain samples. Future studies will focus on investigation of X-linked genes that may affect function of filamin or other cytoskeletal proteins... - Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasiaXiaoling Wang
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 39:836-8. 2007..PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins... - Phenotype and management of Aicardi syndrome: new findings from a survey of 69 childrenMargaret A K Glasmacher
Aicardi Syndrome Newsletter, Louisville, Kentucky, USA
J Child Neurol 22:176-84. 2007..The results from this survey contribute new information on Aicardi syndrome that will benefit clinical management, and collected data will benefit phenotype-driven research toward its underlying cause... - A NotI-EcoRV promoter library for studies of genetic and epigenetic alterations in mouse models of human malignanciesLi Yu
Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, OH 43210, USA
Genomics 84:647-60. 2004..Luciferase assays using NotI-EcoRV clones confirmed that the library is enriched for promoter sequences. Thus, this library will support future genetic and epigenetic studies in mouse models...