Associate Professor of Pediatrics, Boston Children's Hospital
Medical Genetics
Dr. Gail A. Bruns, MD
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Gail A. Bruns, MD works in the field of Medical Genetics. She went to University of Rochester School of Medicine and Dentistry. Gail Bruns is a published doctor as well. She has 66 publications published. The latest was: Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.
Publications
- A new probe for the diagnosis of myotonic muscular dystrophy.
- Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter leads to q22 of chromosome 7.
- The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
- Cloning of human prealbumin complementary DNA. Localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid...
- An anonymous DNA segment (II227) maps to the long arm of human chromosome 5 and identifies a BstXI polymorphism (D5S26).
- Human glyceraldehyde-3-phosphate dehydrogenase in man-rodent somatic cell hybrids.
- Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.
- Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved.
- Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p.
- Localization of the LDHA gene to 11p14----11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13.
- Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2.
- Human serum amyloid P component. cDNA isolation, complete sequence of pre-serum amyloid P component, and localization of the gene to chromosome 1.
- Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII.
- The gene encoding protein kinase SEK1 maps to mouse chromosome 11 and human chromosome 17.
- Monoamine oxidase deficiency in males with an X chromosome deletion.
- A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.
- Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.
- Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.
- Isolation and characterization of a cDNA that encodes the peptide core of the secretory granule proteoglycan of human promyelocytic leukemia HL-60 cells.
- Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase.
- Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.
- Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19.
- Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
- Role for the Wilms tumor gene in genital development?
- Human GAP-43: its deduced amino acid sequence and chromosomal localization in mouse and human.
- Recombinant DNA and the analysis of cytogenetic disorders associated with mental retardation.
- Identification of a simple sequence polymorphism within the mouse locus D12Nyu2.
- X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
- Alternatively spliced ltk mRNA in neurons predicts a receptor with a larger putative extracellular domain.
- (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
- pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24).
- Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping.
- Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
- Novel DNA rearrangement phenomena associated with DNA amplification in human neuroblastomas and neuroblastoma cell lines.
- Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines.
- The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10.
- Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36.
- A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.
- The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart.
- The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.
- Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.
- A WAGR region gene between PAX-6 and FSHB expressed in fetal brain.
- Expression of alpha-D-mannosidase in man-hamster somatic cell hybrids.
- Expression of ACONS and GALT in man-rodent somatic cell hybrids.
- Human mitochondrial NADP-dependent isocitrate dehydrogenase in man-mouse somatic cell hybrids.
- Isolation of human C-reactive protein complementary DNA and localization of the gene to chromosome 1.
- Human acid phosphatase in somatic cell hybrids.
- Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
- Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.
- A highly polymorphic locus in human DNA revealed by probes from cosmid 1-5 maps to chromosome 2q35----37.
- Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
- A deletion map of the WAGR region on chromosome 11.
- Assignment of the human macrophage mannose receptor gene (MRC1) to 10p13 by in situ hybridization and PCR-based somatic cell hybrid mapping.
- Recent evolution of DNA sequence homology in the pericentromeric regions of human acrocentric chromosomes.
- Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
- The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome.
- A strategy to reveal high-frequency RFLPs along the human X chromosome.
- Localization of gelsolin proximal to ABL on chromosome 9.
- Human corticotropin releasing hormone gene is located on the long arm of chromosome 8.
- Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
- The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse.
- cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region.
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
- Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
- Human chromosome 7: DNA sequence and biology.
Schools
University Of Rochester
Barnes Hospital St Louis
Albert Einstein College Of Med
Catholic University Belgium
Doctors Specialties
- Other
- Medical Genetics
Accepted Insurances
Education
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Washington University - Barnes-Jewish Hospital -
University of Rochester School of Medicine and Dentistry
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