DianneAbueloMD

PubMed

• 2 citations
  Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result...
  Rachel M. Marano, Laura Mercurio, Rebecca Kanter, Richard Doyle, Dianne N. Abuelo, Eric M. Morrow, Natasha Shur> ;Journal of Pediatric Genetics. 2015 Jul 27
• 13 citations
  A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene†
  Elvera Sofos, Matthew F. Pescosolido, Jose Bernardo Quintos, Dianne N. Abuelo, Shelly R. Gunn, Karine Hovanes, Eric M. Morrow, Natasha Shur> ;American Journal of Medical Genetics. Part A. 2012 Jan 1
• 2 citations
  The role of new genetic technology in investigating autism and developmental delay.
  Natasha Shur, Shelly Gunn, Lloyd Feit, Albert K. Oh, Yvette Yatchmink, Dianne N. Abuelo> ;Medicine and Health, Rhode Island. 2011 May 1
• 3 citations
  Genetic syndromes: from clinical suspicion to referral to diagnosis.
  Natasha Shur, Dianne N. Abuelo> ;Pediatric Annals. 2009 Aug 1
• 93 citations
  Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
  Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, ...> ;Human Molecular Genetics. 2009 Jun 15
• 143 citations
  Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
  Marlene Anderka, Angela E. Lin, Dianne N. Abuelo, Allen A. Mitchell, Sonja A. Rasmussen> ;American Journal of Medical Genetics. Part A. 2009 Jun 1
• 5 citations
  Clinical significance of chimerism.
  Dianne N. Abuelo> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2009 May 15
• 20 citations
  Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile‐X families
  David L. Meryash, Dianne N. Abuelo> ;Clinical Genetics. 2008 Jun 28
• 542 citations
  Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections
  Dongchuan Guo, Hariyadarshi Pannu, Van Tran-Fadulu, Christina L. Papke, Robert Yu, Nili Avidan, Scott Bourgeois, Anthony L. Estrera, Hazim J. Safi, Elizabeth Sparks, D...> ;Nature Genetics. 2007 Dec 1
• 30 citations
  Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes
  Rachel V. Walden, Sarah Taylor, Nellie I. Hansen, W. Kenneth Poole, Barbara J. Stoll, Dianne N. Abuelo, Betty R. Vohr> ;Pediatrics. 2007 Dec 1
• 150 citations
  Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
  Michael J. Friez, Julie R. Jones, Katie Clarkson, Herbert A. Lubs, Dianne N. Abuelo, Jo-Ann Blaymore Bier, Shashidhar Pai, Richard J. Simensen, Charles A. Williams, Ph...> ;Pediatrics. 2006 Dec 1
• 3 citations
  Pigmentary mosaicism and mosaic Turner syndrome.
  Laura Capaldi, Jennifer P Gray, Dianne N. Abuelo, Antonio Torrelo, Jose Nieto, Candace S. Lapidus, Leslie Robinson-Bostom> ;Journal of the American Academy of Dermatology. 2005 May 1
• 248 citations
  Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
  Jørn V. Sagen, Helge Ræder, Eba Hathout, Naim Shehadeh, Kolbeinn Gudmundsson, Halvor Bævre, Dianne Abuelo, Chanika Phornphutkul, Janne Molnes, Graeme I. Bell, Anna L. ...> ;Diabetes. 2004 Oct 1
• 225 citations
  Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
  Mitsuhiro Kato, Soma Das, Kristin Petras, Kunio Kitamura, Ken Ichirou Morohashi, Diane Abuelo, Mason Barr, Dominique Bonneau, Angela F. Brady, Nancy J. Carpenter, Kare...> ;Human Mutation. 2004 Feb 1
• 25 citations
  Adolescents and genetic testing: what do they think about it?
  Asaff Harel, Dianne N. Abuelo, Alessandra Kazura> ;The Journal of Adolescent Health. 2003 Dec 1
• 1 citations
  Genetic evaluation and counseling for craniofacial anomalies.
  Dianne N. Abuelo> ;Medicine and Health, Rhode Island. 2002 Dec 1
• Impact of genetic diseases in Rhode Island.
  Dianne N. Abuelo> ;Medicine and Health, Rhode Island. 2002 Dec 1
• Point of view: Marfan syndrome: be aware of life-threatening complications.
  Dianne N. Abuelo> ;Medicine and Health, Rhode Island. 2002 Feb 1
• 152 citations
  Familial Thoracic Aortic Aneurysms and Dissections Genetic Heterogeneity With a Major Locus Mapping to 5q13-14
  Dongchuan Guo, Sumera N. Hasham, Shao Qing Kuang, Carl J. Vaughan, Eric Boerwinkle, Hua Chen, Dianne N. Abuelo, Harry C. Dietz, Craig T. Basson, Sanjay Shete, Dianna M...> ;Circulation. 2001 May 22
• 32 citations
  Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
  Matthew D. Mailman, Tamara Hemingway, Rebecca L. Darsey, Carol E. Glasure, Ying Huang, Robert B. Chadwick, John W. Heinz, Audrey C. Papp, Pamela J. Snyder, Mary S. Sed...> ;Human Genetics. 2001 Feb 1
• 21 citations
  Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting
  Dianne N. Abuelo, A N Ahsanuddin, Hon Fong L. Mark> ;American Journal of Medical Genetics. 2000 Oct 23
• 45 citations
  Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
  Kazuki Okajima, Luther K. Robinson, Meeghan A. Hart, Dianne N. Abuelo, Linda Cowan, Tomoko Hasegawa, Irene H. Maumenee, Ethylin Wang Jabs> ;American Journal of Medical Genetics. 1999 Jul 16
• 1 citations
  Medical genetics: past, present and future.
  Dianne N. Abuelo> ;Medicine and Health, Rhode Island. 1999 May 1
• 26 citations
  Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.
  DeeDee Lafayette, Dianne N. Abuelo, Mary Ann Passero, Umadevi Tantravahi> ;Journal of Genetic Counseling. 1999 Feb 1
• Premature Alzheimer Disease Was Not Due to Trauma: Molecular Biology Revises Diagnosis 15 Years After Patient's Autopsy
  Dianne N. Abuelo, Amanda Walsh, William Seltzer, Uma Anath, Brian R. Ott, Guy Geffroy> ;Archives of Neurology. 1998 Aug 1
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