DavidJamesAughtonMD

PubMed

• 5 citations
  Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. C...
  Antonio Ysunza, Kenneth Shaheen, David J. Aughton, Mark Micale, Richard Merson, Kris Rutkowski> ;International Journal of Pediatric Otorhinolaryngology. 2013 Sep 1
• Large duplication in MTM1 associated with myotubular myopathy.
  Amburgey, K.,Lawlor, M. W.,Del Gaudio, D.,Cheng, Y. W.,Fitzpatrick, C.,Minor, A.,Li, X.,Aughton, D.,Das, S.,Beggs, A. H.,Dowling, J. J.> ;Neuromuscul Disord. 2013 Mar
• 17 citations
  Pseudohypoparathyroidism type 1A and morbid obesity in infancy.
  Bassem H. Dekelbab, David J. Aughton, Michael A. Levine> ;Endocrine Practice. 2009 Apr 1
• 14 citations
  Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review
  David J. Aughton, Howard M. Saal, Judith A. Delach, Zia ur Rahman, David Fisher> ;Clinical Genetics. 2008 Jun 28
• 6 citations
  Dizygotic twins concordant for truncus arteriosus.
  Michael J. Lang, David J. Aughton, Thomas W. Riggs, Magdy P. Milad, Leslie G. Biesecker> ;Clinical Genetics. 2008 Jun 28
• 195 citations
  Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
  Jennifer J. Johnston, Isabelle M. Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. A...> ;American Journal of Human Genetics. 2005 Apr 1
• 74 citations
  Further delineation of Kabuki syndrome in 48 well-defined new individuals.
  Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J. Aughton, Clarisse Baumann, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, John M. Graham, Theresa A. Greb...> ;American Journal of Medical Genetics. Part A. 2005 Jan 30
• 36 citations
  Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.
  Caroline Astbury, Laurie A. Christ, David J. Aughton, Suzanne B. Cassidy, Arun Kumar, Evan E. Eichler, Stuart Schwartz> ;Genetics in Medicine. 2004 Mar 1
• 34 citations
  Delineation of complex chromosomal rearrangements: evidence for increased complexity
  Caroline Astbury, Laurie A. Christ, David J. Aughton, Suzanne B. Cassidy, Atsuko Fujimoto, Beth A. Pletcher, Irwin A. Schafer, Stuart Schwartz> ;Human Genetics. 2004 Feb 7
• 29 citations
  Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.
  Ivana M. Vettraino, Wesley Lee, Richard A. Bronsteen, Cheryl E. Harper, David J. Aughton, Christine H. Comstock> ;Obstetrics and Gynecology. 2003 Oct 1
• 25 citations
  Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
  Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin T. Strovel, Yair Anikster, Eduard Orvisky, Marvin R. Natowicz, Donna M. Krasnewich, William A. ...> ;American Journal of Medical Genetics. Part A. 2003 Jul 1
• 34 citations
  X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
  David J. Aughton, Richard I. Kelley, Aida Metzenberg, Vincent Pureza, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2003 Jan 30
• Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
  Alison M. Elliott, Marie Gonzales, Jean-Claude Hoeffel, Martine Le Merrer, Pierre Maroteaux, Férechté Encha-Razavi, N. Joye, Colette Berchel, Christian Fliegel, David ...> ;American Journal of Medical Genetics. 2002 Apr 22
• 44 citations
  Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
  Marjorie J. Rosenberg, Christina Killoran, Laura Dziadzio, Chang S, Deborah L. Stone, Meck J, David J. Aughton, Lynne M. Bird, Joann Bodurtha, Suzanne B. Cassidy, John...> ;Human Genetics. 2001 Jul 31
• 256 citations
  Evaluation of mental retardation: Recommendations of a consensus conference
  Cynthia J. Curry, Roger E. Stevenson, David J. Aughton, Janice L. B. Byrne, John C. Carey, Suzanne B. Cassidy, Christopher Cunniff, John M. Graham, Marilyn C. Jones, M...> ;American Journal of Medical Genetics. 1997 Nov 12
• 50 citations
  Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21
  Ute Schell, Johannes Wienberg, Angelika Köhler, Patricia Bray-Ward, Deeann E. Ward, William G. Wilson, William Allen, Robert Roger Lebel, Jeffrey R. Sawyer, Paul L. Ca...> ;Human Molecular Genetics. 1996 Feb 1
• Isolated bicuspid aortic valve in a newborn with Down syndrome.
  Aughton, D. J., Weinhouse, E., Riggs, T. W.> ;Clin Pediatr (Phila). 1995 Nov
• 3 citations
  Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome
  Fernando P. Polack, David J. Transue, William M. Belknap, Bishara J. Freij, David J. Aughton> ;The Journal of Pediatrics. 1995 Feb 1
• Isolated bicuspid aortic valve in a newborn with Down syndrome.
  Weinhouse, E., Riggs, T. W., Aughton, D. J.> ;Clin Pediatr (Phila). 1995 Feb
• 68 citations
  Marked female predilection in some syndromes associated with facial hemangiomas
  Robert J. Gorlin, Piranit Nik Kantaputra, David J. Aughton, John B. Mulliken> ;American Journal of Medical Genetics. 1994 Aug 15
• Sonographic detection of hydrolethalus syndrome.
  Aughton, D.> ;J Clin Ultrasound. 1994 May
• 2 citations
  Down Syndrome and Omphalocele: An Underrecognized Association
  Vinay N. Reddy, David J. Aughton, David B. Dewitte, Cheryl E. Harper> ;Pediatrics. 1994 Mar 1
• 21 citations
  Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.
  Judith A. Johnson, David J. Aughton, Christine H. Comstock, Paul T. von Oeyen, James V. Higgins, Rex Schulz> ;American Journal of Medical Genetics. 1994 Jan 15
• 12 citations
  Familial medial telangiectatic nevus: variant of nevus flammeus--port-wine stain.
  Krystyna A. Pasyk, Stanislaw R. Wlodarczyk, M. Malgorzata Jakobczak, Marian Kurek, David J. Aughton> ;Plastic and Reconstructive Surgery. 1993 May 1
• 29 citations
  Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies
  David J. Aughton, Abdul A. AlSaadi, Judith A. Johnson, David J. Transue, Gary Trock> ;American Journal of Medical Genetics. 1993 Apr 15
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