L G Shaffer

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Molecular mechanisms for constitutional chromosomal rearrangements in humans
    L G Shaffer
    Department of Molecular and Human Genetics, Department of Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, Texas 77030, USA
    Annu Rev Genet 34:297-329. 2000
  2. pmc Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome
    S K Shapira
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 61:642-50. 1997
  3. ncbi request reprint Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 82:128-31. 1999
  4. ncbi request reprint Satellite III sequences on 14p and their relevance to Robertsonian translocation formation
    R Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Chromosome Res 9:235-42. 2001
  5. ncbi request reprint Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature
    L G Shaffer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 79:366-72. 1998
  6. ncbi request reprint Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci
    S A Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 91:313-7. 2000
  7. ncbi request reprint Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Ann Neurol 50:747-54. 2001
  8. ncbi request reprint Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 92:250-5. 2000
  9. ncbi request reprint Pure trisomy 10p involving an isochromosome 10p
    S A Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Genet 55:367-71. 1999
  10. ncbi request reprint Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
    J E Parrish
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 8:229-35. 1994

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Molecular mechanisms for constitutional chromosomal rearrangements in humans
    L G Shaffer
    Department of Molecular and Human Genetics, Department of Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, Texas 77030, USA
    Annu Rev Genet 34:297-329. 2000
    ....
  2. pmc Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome
    S K Shapira
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 61:642-50. 1997
    ..FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap...
  3. ncbi request reprint Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 82:128-31. 1999
    ..The studies revealed that the X chromosome material in the derivative chromosome was inactive while the chromosome 16 derived material in the derivative chromosome was early replicating and active in all cells studied...
  4. ncbi request reprint Satellite III sequences on 14p and their relevance to Robertsonian translocation formation
    R Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Chromosome Res 9:235-42. 2001
    ..We determined the physical order of five satellite III subfamilies on 14p, and investigated their involvement in formation of these de novo translocations...
  5. ncbi request reprint Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature
    L G Shaffer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 79:366-72. 1998
    ..The results of the study are presented along with a review of the cases of UPD reported in the literature by chromosome, parental origin, mode of ascertainment, and phenotypic consequences due to imprinting...
  6. ncbi request reprint Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci
    S A Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 91:313-7. 2000
    ..The incidence of deletions at 22q11.2 has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 may be estimated to occur in 1 in 200,000 live births...
  7. ncbi request reprint Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Ann Neurol 50:747-54. 2001
    ..These findings indicate plasticity of oligodendrocytes in the formation of central nervous system myelin and suggest a potential role for stem cell transplantation therapies...
  8. ncbi request reprint Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 92:250-5. 2000
    ....
  9. ncbi request reprint Pure trisomy 10p involving an isochromosome 10p
    S A Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Genet 55:367-71. 1999
    ..In contrast, the clinical features described in the current case represent pure trisomy 10p and, thus, delineate the 10p trisomy syndrome phenotype. Mechanisms of the chromosomal rearrangements in this case are suggested...
  10. ncbi request reprint Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
    J E Parrish
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 8:229-35. 1994
    ..By sequence analysis, the expanded region contains a GCC repeat. PCR and sequence analysis of chromosomes from the general population indicates that the repeat is polymorphic (6 to 29 triplets), and is stable upon transmission...
  11. ncbi request reprint Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
    D W Stockton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Arch Neurol 58:1635-7. 2001
    ..Carpal tunnel syndrome is a debilitating neuropathy affecting millions of individuals. Although there are published reports of familial associations of carpal tunnel syndrome, the molecular mechanisms are unknown...
  12. ncbi request reprint Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
    V R Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet 93:381-7. 2000
    ....
  13. ncbi request reprint Identification and characterization of satellite III subfamilies to the acrocentric chromosomes
    R Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Chromosome Res 9:223-33. 2001
    ..Knowledge of these related sequences may help to elucidate the molecular basis of Robertsonian translocation formation...
  14. ncbi request reprint Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 21:1133-6. 2001
    ..Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD...
  15. ncbi request reprint Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype
    P Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030-3498, USA
    Clin Genet 60:336-44. 2001
    ..We compare the clinical characteristics of our patient with those previously reported to have a duplication involving the proximal short arm region of chromosome 17 to further delineate the phenotype of trisomy 17pl0-p12...
  16. ncbi request reprint Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
    H A Heilstedt
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Epilepsia 42:1103-11. 2001
    ..Hemizygosity of this gene in a majority of monosomy 1p36 syndrome patients with epilepsy suggests that haploinsufficiency for KCNAB2 is a significant risk factor for epilepsy...
  17. ncbi request reprint Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily
    Y Q Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Genet Metab 72:343-50. 2001
    ....
  18. ncbi request reprint Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene
    D Li
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Biochem Biophys Res Commun 274:117-23. 2000
    ..All of them have been defined as WD-repeat proteins. Therefore, WDR6 is a novel protein and probably belongs to a highly conserved subfamily of WD-repeat proteins in which T7B11.12 and YPL183c are its distantly related members...
  19. ncbi request reprint Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes
    B E Tubb
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas, 77030, USA
    Genomics 65:146-56. 2000
    ..The likely function of retinal fascin, in light of known fascin roles in other cell types, is to assemble actin microfilaments in support of photoreceptor disk morphogenesis...
  20. ncbi request reprint Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4
    C R Hall
    Department of Pediatrics, University of Texas Health Science Center, Houston 77030, USA
    Clin Genet 60:356-9. 2001
    ..Our results suggest that genes related to mental retardation and craniofacial development must be located outside of the D11S1785-D11S1385 region...
  21. ncbi request reprint Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12
    F A Fletcher
    Immunex Research and Development Corporation, Seattle, Washington 98101, USA
    Genomics 25:334-5. 1995
  22. pmc Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
    Y Q Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 67:1327-32. 2000
    ..2, with hemizygosity in patients with deletion of 11p11.2 who have biparietal foramina, support the contention that ALX4 is a candidate gene for the PFM in the 11p11.2-deletion syndrome...
  23. ncbi request reprint Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era
    R A Britton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 67:78-82. 2000
    ..ERAL1 may be an attractive candidate for a tumor suppressor gene since ERAL1 is located in a chromosomal region where loss of heterozygosity is often associated with various types of cancer...
  24. ncbi request reprint Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene
    K R Bowles
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 105:354-9. 1999
    ..The DNA sequences have been determined for each exon-intron boundary, and putative promoter sequences and transcription initiation sites identified. No consensus polyadenylation signal was identified...
  25. pmc Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
    O Bartsch
    Department of Clinical Genetics, University Hospital Dresden, Germany
    Am J Hum Genet 58:734-42. 1996
    ..Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region...
  26. pmc The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2
    K S Chen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498
    Am J Hum Genet 56:175-82. 1995
    ..Southern blot analysis of somatic-cell hybrids and/or FISH analysis of lymphoblastoid cell lines from 12 SMS patients demonstrates the deletion of one copy of FLI in all SMS patients analyzed...
  27. pmc Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14
    K J Coveler
    J Med Genet 40:e26. 2003