I B Van den Veyver

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. pmc Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
    Ivan J Delgado
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 7:61. 2006
  2. ncbi request reprint Genetic effects of methylation diets
    Ignatia 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
  3. ncbi request reprint Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
    I 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
  4. ncbi request reprint 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 pregnancies
    I 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
  5. ncbi request reprint Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring
    I 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
  6. ncbi request reprint 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
  7. ncbi request reprint Methyl-CpG-binding protein 2 mutations in Rett syndrome
    I 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
  8. ncbi request reprint Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
    T A Cormier
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Mamm Genome 12:796-8. 2001
  9. ncbi request reprint Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3
    S K Prakash
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 59:77-84. 1999
  10. ncbi request reprint Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    R E Amir
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 23:185-8. 1999

Collaborators

  • A K Percy
  • Tarek Al Hussaini
  • C A Bacino
  • Y Li
  • W Zhang
  • Rima Slim
  • D G Glaze
  • Ivan J Delgado
  • Huda Zoghbi
  • A Ballabio
  • Janine LaSalle
  • V Reid Sutton
  • Richard Alan Lewis
  • C Plass
  • S K Prakash
  • R E Amir
  • Y C Kou
  • Xiaoling Wang
  • Margaret A K Glasmacher
  • Ruthie E Amir
  • Prisana C Panichkul
  • Li Yu
  • Rebecca Sierra
  • Siddharth K Prakash
  • T A Cormier
  • R Rosetta
  • A F Wagner
  • H H Peng
  • T K Al-Hussaini
  • D Del Gaudio
  • L Shao
  • Denise Park Parsons
  • Zhiyin Yu
  • Ping Fang
  • Ankita Patel
  • Ying Chuck Kou
  • Rebecca Rosetta
  • J Omar Peraza-Llanes
  • Tanya Eble
  • Tanya N Eble
  • Bobbi Hopkins
  • V Reid Sutton
  • Christina Thaller
  • M A Aragon
  • T Cormier
  • Z Yu
  • David W Stockton
  • C Boyd
  • R Sierra
  • Edwina J Popek
  • C W Gibson
  • Tarek K Al-Hussaini
  • P Fang
  • J T Wright
  • Catherine D Kashork
  • Z A Yuan
  • B B Roa
  • W R Abrams
  • Michael A Caligiuri
  • Ben Rodriguez
  • Ramana V Davuluri
  • Kristi Bennett
  • Aparna Raval
  • Chunhui Liu
  • Brian Becknell
  • Stephen Lee
  • Rene Opavsky
  • Yue Zhong Wu
  • Zunyan Dai
  • Jeff Vandeusen
  • Charlene Mao
  • Prashant Trikha
  • Gustavo Leone
  • Bisong Haupt
  • Alanna E McCall
  • Trena A Cormier
  • Jesus J Garcia
  • D B Magner
  • B Franco
  • M Wan
  • C Q Tran
  • M Volta
  • U Francke

Detail Information

Publications27

  1. pmc Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
    Ivan J Delgado
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 7:61. 2006
    ....
  2. ncbi request reprint Genetic effects of methylation diets
    Ignatia 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
    ....
  3. ncbi request reprint Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
    I 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...
  4. ncbi request reprint 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 pregnancies
    I 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...
  5. ncbi request reprint Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring
    I 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...
  6. ncbi request reprint 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
    ....
  7. ncbi request reprint Methyl-CpG-binding protein 2 mutations in Rett syndrome
    I 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...
  8. ncbi request reprint Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
    T A Cormier
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Mamm Genome 12:796-8. 2001
  9. ncbi request reprint Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3
    S 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...
  10. ncbi request reprint Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    R 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...
  11. pmc Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter
    W 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...
  12. ncbi request reprint Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22
    I 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...
  13. ncbi request reprint A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles
    Y 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...
  14. pmc Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
    R E Amir
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
    J Med Genet 42:e15. 2005
  15. ncbi request reprint Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus
    S 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...
  16. ncbi request reprint Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome
    C 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...
  17. ncbi request reprint Skewed X inactivation in X-linked disorders
    I 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...
  18. ncbi request reprint Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome
    I 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...
  19. ncbi request reprint Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy
    Ruthie 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...
  20. ncbi request reprint Genetic basis of Rett syndrome
    Ignatia 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...
  21. ncbi request reprint Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome
    Siddharth 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...
  22. ncbi request reprint Facial and physical features of Aicardi syndrome: infants to teenagers
    V Reid Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 138:254-8. 2005
    ....
  23. ncbi request reprint Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis
    Prisana C Panichkul
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Soc Gynecol Investig 12:376-83. 2005
    ..To confirm and possibly narrow the critical interval we studied additional rare familial and recurrent cases...
  24. ncbi request reprint Presence of filamin in the astrocytic inclusions of Aicardi syndrome
    Ignatia 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...
  25. ncbi request reprint Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
    Xiaoling 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...
  26. ncbi request reprint Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children
    Margaret 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...
  27. ncbi request reprint A NotI-EcoRV promoter library for studies of genetic and epigenetic alterations in mouse models of human malignancies
    Li 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...