Relevant Publications by Peter K. Rogan, Ph.D. and Joan H.M. Knoll, Ph.D.

• Knoll JHM, Glatt K, Nicholls RD, Malcolm S, Lalande M. Chromosome 15 uniparental disomy is not frequent in Angelman Syndrome.  Amer J Hum Genet 1991; 48:16-21.   View this article here.
  

• Mascari MJ, Gottlieb W. Rogan PK, Butler MG, Waller DA, Armour JAL, Jeffreys AJ, Ladda RL, Nicholls RD: The frequency of uniparental disomy in Prader Willi syndrome. New Eng J Med 326:1599 1607, 1992.   View this article here.
  
  

• Mascari MJ, Rogan PK, Gannutz L, McCurdy M, Croft C, Lichty T. Ladda R: Pseudomosaicism Trisomy 15 in amniocytes: Concern about the possibility of uniparental disomy in the fetus. J Genet Counsel 1:328 329, l992.
  
  

• Woodage T. Prasad M, Dixon JW, Selby RE, Romain DR, Columbano Green LM, Graham D, Rogan PK, Seip JR, Smith A, Trent RJ: Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet 55:74 80, 1994.   View this article here.
  
  

• Knoll JHM, Cheng SD, Lalande M.  Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.  Nature Genet 1994; 6:41-46.   View this article here.
  
  

• White LM, Rogan PK, Nicholls RD, Wu Baylin, Korf B, Knoll JHM: Allele specific replication of 15qll ql3 loci: A diagnostic test for detection of uniparental disomy. Am J Hum Genet 59:423-430, 1996.   View this article here.
  
  

• Nicholls RD, Jong MTC, Glenn CG, Gabriel J, Rogan PK, Driscoll DJ, and Saitoh S: Multiple imprinted genes associated with Prader-Willi syndrome and location of an imprinting control element. Acta Genet. Med. Gemellol. 45: 87-89, 1996.   View this article here.
  

• Butler MB, Rogan PK, Hedges LK, Cassidy SB, Moeschler JB: Kleinfelter and Trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15 - A Coincidence?  Am J Med Genet. 72: 111-114, 1997.   View this article here.
  

• Rogan PK, Seip JW, White L, Wenger SW, Menon R, Knoll JHM: Relaxation of imprinting in Prader-Willi syndrome. Hum Genet, 103(6): 694-701, 1998.   View this article here.
  

• Ohta T, Gray TA, Rogan PK, Gabriel JM, Buiting K, Saitoh S, Methi M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD: Imprinting mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64: 397-413, 1999.   View this article here.
  

• Rogan PK, Sabol DW, Punnett H: Maternal uniparental disomy of chromosome 21 in a normal child. Am J Med Genet 83: 69-71, 1999.   View this article here.
  

• Martin RA, Sabol DW, Rogan PK: Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2). J Med Genet 36: 633-636, 1999.   View this article here.
  

• Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH.  A submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern:  effects of imprinting. Amer J Med Genet 92:19-24, 2000.   View this article here.

• Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD.  Chromosome breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints  Amer J Hum Genet 65:370-386, 1999.   View this article here.

• Gocke CD, Benko FA, Rogan PK. Transmission of mitochondrial DNA heteroplasmy in normal pedigrees.   Hum Genet 102:182-186, 1998.   View this article here.

• Kauffman EJ, Gestil EE, Kim DJ, Walker C, Hite JM, Yan G, Rogan PK, Johnson SL, Cheng KC.  Microsatellite-Centromere Mapping in the Zebrafish (Danio rerio).  Genomics 30:337-341, 1995.   View this article here.

• Knoll JH, Nicholls RD, Magenis RE, Graham JM jr., Lalande M, Latt SA.  Angelman and Prader-Willi Syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.  Amer J Med Genet 32:285-290, 1989.   View this article here.

• Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M.  Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi Syndrome.  Nature 342:281-285, 1989.   View this article here.

• Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH.  Interstitial Duplications of Chromosome Region 15q11q13:  Clinical and Molecular Characterization. Amer J Med Genet 79:82-89, 1998.   View this article here.

• Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.  Clinical Spectrum and Molecular Diagnosis of Angelman and Prader-Willi Syndrome Patients With an Imprinting Mutation.  Amer J Med Genet 68:195-206, 1997.   View this article here.

• Chai JH, Locke DP, Greally JM, Knoll JHM, Ohta T, Dunai J, Yavor A, Eicher EE, Nicholls RD.  Identification of Four Highly Conserved Genes between Breapoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndrome Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons.  Amer J Hum Genet 73:898-925, 2003.   View this article here.

• White LM, Treat K, Leff A, Styers D, Mitchell M, Knoll JHM.  Exclusion of uniparental inheritance of Chromosome 15 in a fetus with a familial dicentric (Y;15) translocation.  Prenatal Diag 18:111-116, 1998.   View this article here.

• Yu N, Kruskall MS, Yunis JJ, Knoll JHM, Uhl L, Alosco S, Ohashi M, Clavijo O, Husain Z, Yunis EJ, Yunis JJ, Yunis EJ.  Disputed Maternity Leading to Identification of Tetragametic Chimerism.  New England Journal of Medicine 346:1545-1552, 2002.   View this article here.

• Knoll JHM and Rogan PK: Prader-Willi Syndrome. Encyclopedia of Neuroscience, 3rd Edition (George Adelman and Barr y H. Smith, eds.), 2004.
  

• Mascari MJ, Rogan PK, Gannutz LS, McCurdy MP, Croft CD, Lichty TR, Ladda R.  Pseudomosaicism Trisomy 15 in Amniocytes: Concern about the Possibility of Uniparental Disomy in the Fetus.  Journal of Genetic Counseling 1:328-329, 1992.  View the Abstract for this article here.

• Knoll JHM, Wagstaff J, Lalande M.  Cytogenetic and Molecular Studies in the Prader-Willi and Angelman Syndromes: An Overview.  American Journal of Medical Genetics 46:2-6, 1993.  View this article here.

• Nicholls RD, Knoll JHM, Glatt K, Hersh JH, Brewster TD, Graham JM, Wurster-Hill D, Wharton R, Latt SA.  Restriction Fragment Length Polymorphisms Within Proximal 15q and Their Use in Molecular Cytogenetics and the Prader-Willi Syndrome.  American Journal of Medical Genetics 33:66-77, 1989.  View this article here.

• Spinner NB, Zackai E, Cheng SD, Knoll JHM.   Supernumerary inv dup(15) in a Patient With Angelman Syndrome and a Deletion of 15q11-q13.   American Journal of Medical Genetics 57:61-65, 1995.  View this article here.

• Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno A, Rogan PK.   Relationship of Sleep Abnormalities to Patient Genotypes in Prader-Willi Syndrome.   American Journal of Medical Genetics (Neuropsychiatric Genetics) 67:478-482, 1996.  View this article here.

• Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, Vela-Bueno A.   Daytime sleepiness and REM abnormalities in Prader-Willi Syndrome: evidence of generalized hypoarousal.   International Journal of Neuroscience 87:127-139, 1996.  View this article here.

• White LM, Knoll JHM.   Angelman Syndrome: Validation of Molecular Cytogenetic Analysis of Chromosome 15q11-q13 for Deletion Detection.   American Journal of Medical Genetics 56:101-105, 1995.  View this article here.

• Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT.   Angelman Syndrome: Consensus for Diagnostic Criteria.  American Journal of Medical Genetics 56:237-238, 1995.  View this article here.