Publications

Relevant Publications by Peter K. Rogan, Ph.D. and Joan H.M. Knoll, Ph.D.
  • Austin-Ward ED, Castillo S, Dragnic Y, Sanz P, Salazar S, Knoll JHM. Clinical Findings in a Patient Mosaic for a Supernumerary Ring Chromosome 20.  American Journal of Medical Genetics 91:171-174, 2000. This article can be downloaded here. 
  • Azim A, Knoll JHM, Marfatia SM, Peel DJ, Bryant PJ, Chishti AH. DLG1: Chromosome Location of the Closest Human Homologue of the Drosophila Discs Large Tumor Suppressor Gene.  Genomics 30:613-616, 1995. This article can be downloaded here. 
  • Azim AC, Knoll JHM, Begg AH, Chishti AH. Isoform Cloning, Actin Binding, and Chromosomal Localization of Human Erythroid Dematin, a Member of the Villin Superfamily.  The Journal of Biological Chemistry 270:17407-17413, 1995. This article can be downloaded here. 
  • Beggs AH, Byers TJ, Knoll JHM, Boyce FM, Bruns GAP, Kunkel LM. Cloning and Characterization of Two Human Skeletal Muscle a-Actinin Genes Located on Chromosomes 1 and 11.  The Journal of Biological Chemistry 267:9281-9288, 1992. This article can be downloaded here. 
  • Bianchi DW, Flint AF, Pizzimenti MF, Knoll JHM, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood.  PNAS 87:3279-3283, 1990. This article can be downloaded here. 
  • Blank V, Knoll JHM, Andrews, NC. Molecular Characterization and Location of the Human MAFG Gene.  Genomics 44:147-149, 1997. This article can be downloaded here. 
  • Conservage MW, Seip JR, Belchis DA, Davis AT, Baylen BG, Rogan PK. Association of a Mosaic Chromosome 22q11 Deletion with Hypoplastic Left Heart Syndrome.  American Journal of Cardiology 77:1023-1025, 1996. This article can be downloaded here. 
  • Douhan J, Lieberson R, Knoll JHM, Zhou H, Glimcher LH. An Isotype-specific Activator of Major Histocompatibility Complex (MHC) Class II Genes That Is Independent of Class II Transactivator.  Journal of Experimental Medicine 11:1885-1895, 1997. This article can be downloaded here. 
  • Gerecke DR, Olson PF, Koch M, Knoll JHM, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson, RE. Complete Primary Structure of Two Splice Variants of Collagen XII, and Assignment of a1(XII) Collagen (COL12A1), a1(IX) Collagen (COL9A1), and a1(XIX) Collagen (COL19A1) to Human Chromosome 6q12-q13.  Genomics 41:236-242, 1997. This article can be downloaded here. 
  • Greger V, Knoll JHM, Woolfe E, Glatt K, Tyndale RF, DeLorey TM, Olsen RW, Tobin AJ, Sikela JM, Nakatsu Y, Brilliant MH, Whiting PJ, Lalande M. The g-Aminobutyric Acid Receptor g3 Subunit Gene (GABRG3) Is Tightly Linked to the a5 Subunit Gene (GABRA5) on Human Chromosome 15q11-q13 and Is Transcribed in the Same Orientation.  Genomics 26:258-264, 1995. This article can be downloaded here. 
  • Heartlin MW, Knoll JHM, Latt SA. Chromosome Instability Associated with Human Alphoid DNA Transfected into Chinese Hamster Genome.   Molecular and Cellular Biology 8:3611-3618, 1988. This article can be downloaded here. 
  • Knoll JHM, Sinnett D, Wagstaff J, Glatt K, Schantz Wilcox A, Whiting PM, Wingrove P, Sikela JM, Lalande M. FISH ordering of reference markers and of the gene for the a5 subunit of the g-amniobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi Syndrome chromosomal regions.  Human Molecular Genetics 2:183-189, 1993. This article can be downloaded here. 
  • Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia.  Cell 89:773-779, 1997. This article can be downloaded here. 
  • Repetto GM, Wagstaff J, Korf BR, Knoll JHM. Complex Familial Rearrangement of Chromosome 9p24.3 Detected by FISH.  American Journal of Medical Genetics 76:306-309, 1998. This article can be downloaded here. 
  • Shi GP, Webb AC, Foster KE, Knoll JHM, Lemere CA, Munger JS, Chapman HA. Human Cathepsin S: Chromosomal Localization, Gene Structure, and Tissue Distribution.  The Journal of Biological Chemistry 269:11530-11536, 1994. This article can be downloaded here. 
  • Simmons CF, Clancy TE, Quan R, Knoll JHM. The Oxytocin Receptor Gene (OXTR) Localizes to Human Chromosome 2p25 by Fluorescence in Situ Hybridization and PCR Analysis of Somatic Cell Hybrids.  Genomics 26:623-625, 1995. This article can be downloaded here. 
  • Chudley AE, Knoll J, Gerrard JW, Shepel L, McGahey E, Anderson J. Fragile (X) X-Linked Mental Retardation I: Relationship Between Age and Intelligence adn the Frequency of Expression of Fragile (X)(q28).  American Journal of Medical Genetics 14:699-712, 1983. This article can be downloaded here. 
  • Chudley AE, Rozdilsky B, Houston CS, Becker LE, Knoll JH. Multicore Disease in Sibs With Severe Mental Retardation, Short Stature, Facial Anomalies, Hypoplasia of the Pituitary Fossa, and Hypogonadotrophic Hypogonadism.  American Journal of Medical Genetics 20:145-158, 1985. This article can be downloaded here. 
  • , Conservage MW, Seip JR, Belchis DA, Davis AT, Baylen BG, Rogan PK. Association of a Mosaic Chromosomal 22q11 Deletion With Hypoplastic Left Heart Syndrome.  American Journal of Cardiology 77:1023-1025. This article can be downloaded here. 
  • Conservage MW, Salada GC, Baylen BG, Ladda RL, Rogan PK. A new missense mutation, Arg719Gln, in the b-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.  Human Molecular Genetics 3:1025-1026, 1994. This article can be downloaded here. 
  • Hagerman RJ, Chudley AE, Knoll JH, Jackson AW III, Kemper M, Ahmad R. Autism in Fragile X Females.  American Journal of Medical Genetics 23:375-380, 1986. This article can be downloaded here. 
  • Hess EJ, Rogan PK, Domoto M, Tinker DE, Ladda RL, Ramer JC. Absence of Linkage of Apparently Single Gene Mediated ADHD With the Human Syntetic Region of the Mouse Mutant Coloboma.  American Journal of Medical Genetics (Neuropsychiatry Genetics) 60:573-579, 1995. This article can be downloaded here. 
  • Knoll JHM, Asamoah A, Pletcher BA, Wagstaff J. Interstitial Duplication of Proximal 22q: Phenotypic Overlap With Cat Eye Syndrome.  American Journal of Medical Genetics 55:221-224, 1995. This article can be downloaded here. 
  • Ladda RL, Zonana J, Ramer JC, Mascari MJ, Rogan PK. Congenital Contractures, Ectodermal Dysplasia, Cleft Lip/ Palate, and Developmental Imparement: A Distinct Syndrome.  American Journal of Medical Genetics 47:550-555, 1993. This article can be downloaded here. 
  • Mowrey PN, Chorney MJ, Venditti CP, Latif F, Modi WS, Lerman MI, Zbar B, Robins DB, Rogan PK, Ladda RL. Clinical and Molecular Analysis of Deletion 32p25-pter Syndrome.  American Journal of Medical Genetics 46:623-629, 1993. This article can be downloaded here. 
  • Ramer JC, Eggli K, Rogan PK, Ladda RL. Identical Twins With Weissbacher- Zweymüller Syndrome and Neural Tube Defect.  American Journal of Medical Genetics 45:614-618, 1993. This article can be downloaded here. 
  • Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Distinct 15q Genotypes in Russell-Silver and Ring 15 Syndromes.  American Journal of Medical Genetics 62:10-15, 1996. This article can be downloaded here. 
  • Zaragoza MV, Jacobs PA, James RS, Rogan PK, Sherman S, Hassold T. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.  Human Genetics 94:411-417, 1994. This article can be downloaded here. 
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