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Last Name
Institution

Lisa J. Edelmann

TitleASSOCIATE PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
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     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. Eur J Med Genet. 2013 Nov; 56(11):619-23.
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    2. Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet. 2013 Oct; 6(5):444-51.
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    3. Tulchin N, Ornstein L, Dikman S, Strauchen J, Jaffer S, Nagi C, Bleiweiss I, Kornreich R, Edelmann L, Brown K, Bodian C, Nair VD, Chambon M, Woods NT, Monteiro AN. Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations. Cancer Cell Int. 2013; 13(1):70.
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    4. Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J. 2013 Dec; 13(6):558-66.
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    5. Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur J Med Genet. 2012 Dec; 55(12):732-6.
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    6. Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet A. 2012 May; 158A(5):1170-7.
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    7. Southard AE, Edelmann LJ, Gelb BD. Role of copy number variants in structural birth defects. Pediatrics. 2012 Apr; 129(4):755-63.
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    8. Scott SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU. Pharmacogenomics. 2012 Feb; 13(3):297-307.
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    9. Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat. 2010 Nov; 31(11):1240-50.
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    10. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med. 2010 Sep 13; 170(16):1463-9.
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    11. Wang Y, Huang B, Edelmann L, Kolodner RD, Edelmann W. Genes essential for cell viability that are linked to tumor suppressor genes play a role in cancer susceptibility. Cell Cycle. 2010 Aug 15; 9(16):3144-5.
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    12. Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum Mol Genet. 2010 Sep 1; 19(17):3383-93.
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    13. Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature. 2010 Jun 10; 465(7299):808-12.
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    14. Zhong M, De Angelo P, Osborne L, Keane-Tarchichi M, Goldfischer M, Edelmann L, Yang Y, Linehan WM, Merino MJ, Aisner S, Hameed M. Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma. Am J Surg Pathol. 2010 Jun; 34(6):757-66.
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    15. Galende E, Karakikes I, Edelmann L, Desnick RJ, Kerenyi T, Khoueiry G, Lafferty J, McGinn JT, Brodman M, Fuster V, Hajjar RJ, Polgar K. Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cell Reprogram. 2010 Apr; 12(2):117-25.
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    16. McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism. 2010; 1(1):5.
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    17. Wang Y, Zhang W, Edelmann L, Kolodner RD, Kucherlapati R, Edelmann W. Cis lethal genetic interactions attenuate and alter p53 tumorigenesis. Proc Natl Acad Sci U S A. 2010 Mar 23; 107(12):5511-5.
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    18. Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med. 2010 Feb; 12(2):85-92.
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    19. Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K. Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn. 2009 Nov; 11(6):530-6.
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    20. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci. 2009 Jan; 1151:157-66.
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    21. Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics. 2008; 1:50.
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    22. Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009 Feb; 75(2):190-4.
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    23. Scott SA, Edelmann L, Kornreich R, Desnick RJ. Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet. 2008 Feb; 82(2):495-500.
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    24. Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K. Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome. Am J Med Genet A. 2008 Jan 15; 146A(2):219-24.
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    25. Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, Ophoff RA, Veltman JA. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry. 2008 Mar; 13(3):261-6.
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    26. Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics. 2007 Jul; 8(7):721-30.
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    27. Maier SM, Scherer SJ, Seifert M, Hanselmann RG, Schleehuber Y, Edelmann L, Reichrath J, Krohne G, Rescher U, Seidl W, Mutschler W, Claes L, Welter C, Schartl M. 1[alpha],25-dihydroxyvitamin D(3) enhances annexin II dependent proliferation of osteoblasts. J Cell Biochem. 2007 Feb 15; 100(3):679-92.
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    28. Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2007 Feb; 44(2):136-43.
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    29. Edelmann L. Doubts about the sodium-potassium pump are not permissible in modern bioscience. Cell Mol Biol (Noisy-le-grand). 2005 Dec 16; 51(8):725-9.
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    30. Wang Y, Putnam CD, Kane MF, Zhang W, Edelmann L, Russell R, Carrión DV, Chin L, Kucherlapati R, Kolodner RD, Edelmann W. Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice. Nat Genet. 2005 Jul; 37(7):750-5.
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    31. Shanske AL, Edelmann L, Kardon NB, Gosset P, Levy B. Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation. Am J Med Genet A. 2004 Nov 15; 131(1):29-35.
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    32. Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ. Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. Genet Med. 2004 Sep-Oct; 6(5):431-8.
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    33. Kornreich R, Ekstein J, Edelmann L, Desnick RJ. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med. 2004 Sep-Oct; 6(5):415-20.
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    34. Edelmann L, Edelmann W. Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer. Am J Med Genet C Semin Med Genet. 2004 Aug 15; 129C(1):91-9.
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    35. Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet. 2002 Jul 1; 110(3):253-7.
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    36. Spehner D, Drillien R, Proamer F, Hanau D, Edelmann L. Embedding in Spurr's resin is a good choice for immunolabelling after freeze drying as shown with chemically unfixed dendritic cells. J Microsc. 2002 Jul; 207(Pt 1):1-4.
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    37. Edelmann L. Freeze-dried and resin-embedded biological material is well suited for ultrastructure research. J Microsc. 2002 Jul; 207(Pt 1):5-26.
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    38. Edelmann L, Dong J, Desnick RJ, Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet. 2002 Apr; 70(4):1023-7.
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    39. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet. 2001 Oct; 69(4):863-8.
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    40. Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Prenatal genetic screening in the Ashkenazi Jewish population. Clin Perinatol. 2001 Jun; 28(2):367-82.
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    41. Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE, Lupski J. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 2001 Feb; 11(2):208-17.
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    42. Edelmann L. How to explain established relationships between ion fluxes across cell membranes and Na,K-ATPase activities under the assumption that the Na,K-ATPase is no ion pump. Physiol Chem Phys Med NMR. 2001; 33(2):209-13.
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    43. Edelmann L. Basic biological research with the striated muscle by using cryotechniques and electron microscopy. Physiol Chem Phys Med NMR. 2001; 33(1):1-21; discussion 21-7.
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    44. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet. 2001 Jan; 68(1):1-13.
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    45. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet. 1999 Dec; 65(6):1608-16.
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    46. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999 Jul; 8(7):1157-67.
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    47. Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999 Apr; 64(4):1076-86.
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    48. Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet. 1999 Mar; 64(3):747-58.
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    49. Edelmann L, Zheng L, Wang ZF, Marzluff W, Wessel GM, Childs G. The TATA binding protein in the sea urchin embryo is maternally derived. Dev Biol. 1998 Dec 1; 204(1):293-304.
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    50. Edelmann L, Childs G. Multiple SSAP binding sites constitute the stage-specific enhancer of the sea urchin late H1beta gene. Gene Expr. 1998; 7(3):133-47.
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    51. Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Genomics. 1997 Dec 15; 46(3):364-72.
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    52. Edelmann L, Ruf A. Freeze-dried human leukocytes stabilized with uranyl acetate during low temperature embedding or with OsO4 vapor after embedding. Scanning Microsc Suppl. 1996; 10:295-307.
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    53. Li JY, Edelmann L, Jahn R, Dahlström A. Axonal transport and distribution of synaptobrevin I and II in the rat peripheral nervous system. J Neurosci. 1996 Jan; 16(1):137-47.
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    54. Chilcote TJ, Galli T, Mundigl O, Edelmann L, McPherson PS, Takei K, De Camilli P. Cellubrevin and synaptobrevins: similar subcellular localization and biochemical properties in PC12 cells. J Cell Biol. 1995 Apr; 129(1):219-31.
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    55. Walch-Solimena C, Blasi J, Edelmann L, Chapman ER, von Mollard GF, Jahn R. The t-SNAREs syntaxin 1 and SNAP-25 are present on organelles that participate in synaptic vesicle recycling. J Cell Biol. 1995 Feb; 128(4):637-45.
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    56. Edelmann L, Hanson PI, Chapman ER, Jahn R. Synaptobrevin binding to synaptophysin: a potential mechanism for controlling the exocytotic fusion machine. EMBO J. 1995 Jan 16; 14(2):224-31.
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    57. Pietrini G, Suh YJ, Edelmann L, Rudnick G, Caplan MJ. The axonal gamma-aminobutyric acid transporter GAT-1 is sorted to the apical membranes of polarized epithelial cells. J Biol Chem. 1994 Feb 11; 269(6):4668-74.
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    58. Sitte H, Edelmann L, Hässig H, Kleber H, Lang A. A new versatile system for freeze-substitution, freeze-drying and low temperature embedding of biological specimens. Scanning Microsc Suppl. 1994; 8:47-64; discussion 64-6.
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    59. Edelmann L. Optimal freeze-drying of cryosections and bulk specimens for X-ray microanalysis. Scanning Microsc Suppl. 1994; 8:67-76; discussion 76-81.
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    60. Link E, Blasi J, Chapman ER, Edelmann L, Baumeister A, Binz T, Yamasaki S, Niemann H, Jahn R. Tetanus and botulinal neurotoxins. Tools to understand exocytosis in neurons. Adv Second Messenger Phosphoprotein Res. 1994; 29:47-58.
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    61. McMahon HT, Ushkaryov YA, Edelmann L, Link E, Binz T, Niemann H, Jahn R, Südhof TC. Cellubrevin is a ubiquitous tetanus-toxin substrate homologous to a putative synaptic vesicle fusion protein. Nature. 1993 Jul 22; 364(6435):346-9.
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    62. Link E, Edelmann L, Chou JH, Binz T, Yamasaki S, Eisel U, Baumert M, Südhof TC, Niemann H, Jahn R. Tetanus toxin action: inhibition of neurotransmitter release linked to synaptobrevin proteolysis. Biochem Biophys Res Commun. 1992 Dec 15; 189(2):1017-23.
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    63. Bur ME, Perlman C, Edelmann L, Fey E, Rose PG. p53 expression in neoplasms of the uterine corpus. Am J Clin Pathol. 1992 Jul; 98(1):81-7.
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    64. Hell JW, Edelmann L, Hartinger J, Jahn R. Functional reconstitution of the gamma-aminobutyric acid transporter from synaptic vesicles using artificial ion gradients. Biochemistry. 1991 Dec 24; 30(51):11795-800.
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    65. Edelmann L. Freeze-substitution and the preservation of diffusible ions. J Microsc. 1991 Feb; 161(Pt 2):217-28.
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    66. Edelmann L. Adsorption staining of freeze-substituted and low temperature embedded frog skeletal muscle with cesium: a new method for the investigation of protein-ion interactions. Scanning Microsc Suppl. 1991; 5(4):S75-82; discussion S82-4.
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    67. Edelmann L. The physical state of potassium in frog skeletal muscle studied by ion-sensitive microelectrodes and by electron microscopy: interpretation of seemingly incompatible results. Scanning Microsc. 1989 Dec; 3(4):1219-30.
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    68. Edelmann L. The contracting muscle: a challenge for freeze-substitution and low temperature embedding. Scanning Microsc Suppl. 1989; 3:241-51; discussion 251-2.
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    69. Edelmann L. The cell water problem posed by electron microscopic studies of ion binding in muscle. Scanning Microsc. 1988 Jun; 2(2):851-65.
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    70. Edelmann L. Freeze-dried embedded specimens for biological microanalysis. Scan Electron Microsc. 1986; (Pt 4):1337-56.
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    71. Morgenstern E, Edelmann L, Reimers HJ, Miyashita C, Haurand M. Fibrinogen distribution on surfaces and in organelles of ADP stimulated human blood platelets. Eur J Cell Biol. 1985 Sep; 38(2):292-300.
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    72. Edelmann L. Subcellular distribution of potassium in striated muscles. Scan Electron Microsc. 1984; (Pt 2):875-88.
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    73. Edelmann L. Frozen hydrated cryosections of thallium loaded muscle reveal subcellular potassium binding sites. Physiol Chem Phys Med NMR. 1984; 16(6):499-501.
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    74. Edelmann L, Ochsenfeld MM, Negendank W. Potassium efflux from frog oocytes: effects of temperature, preincubation and injection of a gelatin bead. Physiol Chem Phys Med NMR. 1984; 16(3):197-207.
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    75. Edelmann L. Electron probe X-ray microanalysis of K, Rb, Cs, and T1 in cryosections of striated muscle. Physiol Chem Phys Med NMR. 1983; 15(4):337-44.
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    76. Edelmann L. Comments on Kernan's misrepresentation of the association-induction hypothesis in his book Cell Potassium. Physiol Chem Phys. 1982; 14(3):215-8.
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    77. Edelmann L. Potassium binding sites in muscle: electron microscopic visualization of K, Rb, and Cs in freeze-dried preparations and autoradiography at liquid nitrogen temperature using 86Rb and 134Cs. Histochemistry. 1980; 67(3):233-42.
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    78. Edelmann L. Preferential localized uptake of K+ and Cs+ over Na+ in the A-band of freeze-dried embedded muscle section: detection by x-ray microanalysis and laser microprobe mass analysis. Physiol Chem Phys. 1980; 12(6):509-14.
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    79. Edelmann L, Morgenstern E. On the role of glutaraldehyde for cryoprotection in freeze-fracturing of cells and tissues. Mikroskopie. 1979 Jun; 35(3-4):61-5.
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    80. Edelmann L. Freeze-drying of chemically unfixed biological material for electron microscopy. Mikroskopie. 1979 Feb; 35(1-2):31-6.
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    81. Edelmann L. A simple freeze-drying technique for preparing biological tissue without chemical fixation for electron microscopy. J Microsc. 1978 Mar; 112(2):243-8.
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    82. Edelmann L. Visualization and x-ray microanalysis of potassium tracers in freeze-dried and plastic embedded frog muscle. Microsc Acta Suppl. 1978; (2):166-74.
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    83. Edelmann L. Demonstration of Rb+, Cs+, and Na+ localization in single muscle fibers by autoradiography at 77 degrees K. Physiol Chem Phys. 1978; 10(5):469-70.
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    84. Edelmann L. Potassium adsorption in muscle: an electron microscopic proof. Physiol Chem Phys. 1977; 9(2):203-4.
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    85. Edelmann L. Potassium adsorption sites in frog muscle visualized by cesium and thallium under the transmission electron microscope. Physiol Chem Phys. 1977; 9(4-5):313-7.
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    86. Edelmann L, Edelmann H, Baldauf JH. Rapid exchange of cellular K+, Rb+, and Cs+ and its relation to the resting potential of guinea pig papillary muscle cells. Physiol Chem Phys. 1974; 6(5):429-44.
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    87. Edelmann L. The influence of rubidium and Cesium ions on the resting potential of guinea-pig heart muscle cells as predicted by the association-induction hypothesis. Ann N Y Acad Sci. 1973 Mar 30; 204:534-7.
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    88. Edelmann L, Edelmann H. Rapid elimination of barium-137m from guinea-pig heart muscle cells. Biophysik. 1973; 10(3):99-101.
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    89. Edelmann L. Resting potential: membrane potential or phase boundary potential. Physiol Chem Phys. 1973; 5(5):449-52.
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    90. Kemmer W, Muth H, Tranekjer F, Edelmann L. Dose dependence of the chromosome aberration rate in thorotrast patients. Biophysik. 1971; 7(4):342-51.
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    91. Edelmann L. [A method for study of the adsorption of potassium, rubidium and cesium to cell membranes]. Biophysik. 1971; 7(3):247-50.
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    92. Edelmann L. [On the preferred accumulation of cesium 137 in mammalian organism in comparison with the accumulation of potassium. II. Discussion of the potassium and cesium 137 accumulation in mammalian organism]. Biophysik. 1971; 7(4):302-10.
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    93. Edelmann L, Pfleger K, Matt KH. [Preferential accumulation of cesium 137 in the mammalian organism, in comparison with potassium accumulation. I. Accumulation of potassium, rubidium and cesium in the perfused guinea pig heart]. Biophysik. 1971; 7(3):181-99.
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