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Zand, Dina

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4763359
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    Collapse Bibliographic 
    Collapse 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. George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394. PMID: 27889061.
      View in: PubMed
    2. Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. Am J Med Genet A. 2016 Apr; 170A(4):967-77. PMID: 26692240.
      View in: PubMed
    3. Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000455. PMID: 27148570; PMCID: PMC4850885.
    4. Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ. Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. Am J Med Genet A. 2015 Aug; 167A(8):1944-8. PMID: 25900722.
      View in: PubMed
    5. Guillen Sacoto MJ, Chapman KA, Heath D, Seprish MB, Zand DJ. An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine. Mol Genet Metab Rep. 2015 Jun; 3:47-54. PMID: 26937396; PMCID: PMC4750614.
    6. Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015 Dec; 88(6):516-22. PMID: 25683281.
      View in: PubMed
    7. De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B. Severe neonatal holocarboxylase synthetase deficiency in west african siblings. JIMD Rep. 2015; 20:1-4. PMID: 25690727; PMCID: PMC4375121.
    8. Kruszka PS, Kirmse B, Zand DJ, Cusmano-Ozog K, Spector E, Van Hove JL, Chapman KA. Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Mol Genet Metab Rep. 2014; 1:237-240. PMID: 27896094.
      View in: PubMed
    9. Zhao Q, Okada K, Rosenbaum K, Kehoe L, Zand DJ, Sze R, Summar M, Linguraru MG. Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA. Med Image Anal. 2014 Jul; 18(5):699-710. PMID: 24835178.
      View in: PubMed
    10. Avery RA, Hwang EI, Ishikawa H, Acosta MT, Hutcheson KA, Santos D, Zand DJ, Kilburn LB, Rosenbaum KN, Rood BR, Schuman JS, Packer RJ. Handheld optical coherence tomography during sedation in young children with optic pathway gliomas. JAMA Ophthalmol. 2014 Mar; 132(3):265-71. PMID: 24435762; PMCID: PMC4445404.
    11. Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. Mol Genet Metab Rep. 2014; 1:66-70. PMID: 27896076.
      View in: PubMed
    12. Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A. 2013 Oct; 161A(10):2420-30. PMID: 23918763; PMCID: PMC3787995.
    13. Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52. PMID: 23813913.
      View in: PubMed
    14. Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):1001-7. PMID: 23731542; PMCID: PMC3675260.
    15. Zhao Q, Rosenbaum K, Okada K, Zand DJ, Sze R, Summar M, Linguraru MG. Automated Down syndrome detection using facial photographs. Conf Proc IEEE Eng Med Biol Soc. 2013; 2013:3670-3. PMID: 24110526.
      View in: PubMed
    16. Zhao Q, Okada K, Rosenbaum K, Zand DJ, Sze R, Summar M, Linguraru MG. Hierarchical constrained local model using ICA and its application to Down syndrome detection. Med Image Comput Comput Assist Interv. 2013; 16(Pt 2):222-9. PMID: 24579144.
      View in: PubMed
    17. Tanpaiboon P, Sloan JL, Callahan PF, McAreavey D, Hart PS, Lichter-Konecki U, Zand D, Venditti CP. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. JIMD Rep. 2013; 10:33-8. PMID: 23430797; PMCID: PMC3755569.
    18. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar; 33(3):457-66. PMID: 22213154.
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    19. Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 2008 Dec 01; 146A(23):3038-53. PMID: 19006208.
      View in: PubMed
    20. Zand DJ, Brown KM, Lichter-Konecki U, Campbell JK, Salehi V, Chamberlain JM. Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism. Pediatrics. 2008 Dec; 122(6):1191-5. PMID: 19047233.
      View in: PubMed
    21. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54. PMID: 18536050; PMCID: PMC2801020.
    22. Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 2008 Aug; 94(4):498-502. PMID: 18524659; PMCID: PMC2572572.
    23. Cho G, Lim Y, Zand D, Golden JA. Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling. Mol Cell Biol. 2008 Mar; 28(5):1565-72. PMID: 18160706; PMCID: PMC2258788.
    24. Isaacs JS, Zand DJ. Single-gene autosomal recessive disorders and Prader-Willi syndrome: an update for food and nutrition professionals. J Am Diet Assoc. 2007 Mar; 107(3):466-78. PMID: 17324666.
      View in: PubMed
    25. Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A. 2004 Apr 30; 126A(3):261-6. PMID: 15054839.
      View in: PubMed
    26. Zand DJ, Simon EM, Pulitzer SB, Wang DJ, Wang ZJ, Rorke LB, Palmieri M, Berry GT. In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol. 2003 Aug; 24(7):1471-4. PMID: 12917150.
      View in: PubMed
    27. Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Crane-Heise syndrome: a second familial case report with elaboration of phenotype. Am J Med Genet A. 2003 Apr 30; 118A(3):223-8. PMID: 12673651.
      View in: PubMed
    28. Minucci S, Botquin V, Yeom YI, Dey A, Sylvester I, Zand DJ, Ohbo K, Ozato K, Scholer HR. Retinoic acid-mediated down-regulation of Oct3/4 coincides with the loss of promoter occupancy in vivo. EMBO J. 1996 Feb 15; 15(4):888-99. PMID: 8631309; PMCID: PMC450286.
    29. Yang Y, Minucci S, Zand DJ, Ozato K, Ashwell JD. T cell activation and increases in protein kinase C activity enhance retinoic acid-induced gene transcription. Mol Endocrinol. 1994 Oct; 8(10):1370-6. PMID: 7854354.
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    30. Minucci S, Zand DJ, Dey A, Marks MS, Nagata T, Grippo JF, Ozato K. Dominant negative retinoid X receptor beta inhibits retinoic acid-responsive gene regulation in embryonal carcinoma cells. Mol Cell Biol. 1994 Jan; 14(1):360-72. PMID: 8264603; PMCID: PMC358385.
    31. Hammer JA, O'Shannessy DJ, De Leon M, Gould R, Zand D, Daune G, Quarles RH. Immunoreactivity of PMP-22, P0, and other 19 to 28 kDa glycoproteins in peripheral nerve myelin of mammals and fish with HNK1 and related antibodies. J Neurosci Res. 1993 Aug 01; 35(5):546-58. PMID: 7690857.
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    32. Zand D, Hammer J, Gould R, Quarles R. High expression of the HNK-1/L2 carbohydrate epitope in the major glycoproteins of shark myelin. J Neurochem. 1991 Sep; 57(3):1076-9. PMID: 1713613.
      View in: PubMed
    33. Theodorakis NG, Zand DJ, Kotzbauer PT, Williams GT, Morimoto RI. Hemin-induced transcriptional activation of the HSP70 gene during erythroid maturation in K562 cells is due to a heat shock factor-mediated stress response. Mol Cell Biol. 1989 Aug; 9(8):3166-73. PMID: 2796986; PMCID: PMC362360.
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