부산대학교 도서관

Parisi, Melissa A ; Dobyns, William B

In Molecular Genetics and Metabolism 2003 80(1):36-53

Parisi, Melissa A ; Baldessari, Audrey E ; Iida, Malissa H.K ; Clarke, Christine M ; Doggett, Barbara ; Shirasawa, Senji ; Kapur, Raj P

In Gastroenterology 2003 125(5):1428-1440

Parisi, Melissa A; Doherty, Dan; Chance, Phillip F; Glass, Ian A

European Journal of Human Genetics. May2007, Vol. 15 Issue 5, p511-521. 11p. 2 Diagrams, 3 Charts.

Bardhan S; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.; Li H; National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Tarver E; National Institute on Aging (NIA), NIH, Bethesda, Maryland, USA.; Schramm C; National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Brown M; National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Garcia L; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.; Schwartz B; National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Mazzucco A; Office of the Director, NIH, Bethesda, Maryland, USA.; Natarajan N; Office of the Director, NIH, Bethesda, Maryland, USA.; Walsh E; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.; Ryan L; National Institute on Aging (NIA), NIH, Bethesda, Maryland, USA.; Pearson G; National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

King TM; Tracy M. King and Melissa A. Parisi,Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.; Parisi MA; Tracy M. King and Melissa A. Parisi,Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.

Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

Urv TK; Division of Rare Diseases Research Innovation (DRDRI), National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.; Parisi MA; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE; PubMed not MEDLINE

Yu TW; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Green RC; Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.; MacKenzie T; Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA.; Wasserstein M; Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA.; Caggana M; Division of Genetics, New York State Department of Health, Albany, New York, USA.; Gold NB; Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA.; Kennedy A; EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA.; Kishnani PS; Department of Pediatrics, Duke University, Durham, North Carolina, USA.; Might M; Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Brooks PJ; Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.; Morris JA; Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Parisi MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Urv TK; Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Caggana M; Wadsworth Center, New York State Department of Health, Division of Genetics, Albany, New York, USA.; Cohen JL; Duke University School of Medicine, Durham, North Carolina, USA.; Gold NB; Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Morris JA; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Orsini JJ; New York State Department of Health, Wadsworth Center, Albany, New York, USA.; Urv TK; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.; Wasserstein MP; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Brooks PJ; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.; Urv TK; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.; Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Chen FH; National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), USA. Electronic address: chenf1@mail.nih.gov.; Hartman AL; National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), USA.; Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), France.; Antoniadou V; Cyprus Alliance for Rare Disorders, Nicosia, Cyprus.; Baynam G; Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Australia.; Bloom L; The Ehlers-Danlos Society, USA.; Crimi M; Kaleidos SCS, Scientific Office, Italy.; Della Rocca MG; Global Genes, USA.; Didato G; Epilepsy Unit, Sleep Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Jonker A; University of Twente, the Netherlands.; Kawome M; Sally Mugabe Central Hospital, Zimbabwe.; Mueller F; Department of Child and Youth Psychiatry, Psychosomatics and Psychotherapy, Asklepios Hospital Luebben, Germany.; O'Brien J; International Prader Willi Syndrome Organisation (IPWSO), United Kingdom.; Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.; Ryan N; NCBRS (Nicolaides-Baraitser Syndrome) Worldwide Foundation, United Kingdom.; Thong MK; Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Malaysia.; Tumienė B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University Hospital Santaros Klinikos, Lithuania.; Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), USA.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Minear MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Phillips MN; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Allen Institute for Brain Science, Seattle, Washington, USA.; Kau A; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Parisi MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Forsyth R; Department of Pediatrics and McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Parisi MA; Intellectual & Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Altintas B; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.; Malicdan MC; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Vilboux T; Inova Functional Laboratory, Inova Health System, Fairfax, Virginia, USA.; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Knoll J; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.; Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.; Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Toro C; Undiagnosed Disease Network, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Gunay-Aygun M; Department of Pediatrics and McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A; Parisi, Melissa A; Otto, Edgar A; Johnson, Colin A; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H; Doherty, Dan

Journal of Medical Genetics. Jan 01, 2016 53(1):62-72

Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; OʼDay, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; Mefford, Heather; Glass, Ian; Doherty, Dan

Journal of Medical Genetics. Feb 01, 2012 49(2):126-137

Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O’Toole, John F; Sayer, John A; Hildebrandt, Friedhelm

JOURNAL OF MEDICAL GENETICS. Oct 01, 2007 44(10):657-663

Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A; Parisi, Melissa A; Otto, Edgar A; Johnson, Colin A; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H; Doherty, Dan

Paediatrics Publications

Bachmann-Gagescu R; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Dempsey JC; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Bulgheroni S; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Chen ML; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Division of Pulmonary and Sleep Medicine, Seattle Children's Hospital, Seattle, Washington.; D'Arrigo S; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Glass IA; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.; Héon E; Department of Surgery, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Science, University of Toronto, Toronto, Ontario, Canada.; Hildebrandt F; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Joshi N; Department of Anesthesia, Deaconess Hospital, Evansville, Indiana.; Anesthesia Dynamics, LLC, Evansville, Indiana.; Knutzen D; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.; The Children's Hospital of San Antonio, San Antonio, Texas.; Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Mack SH; Joubert Syndrome and Related Disorders Foundation, Petaluma, California.; Nuovo S; Neurogenetics Lab, IRCCS Santa Lucia Foundation, Rome, Italy.; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.; Parisi MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.; Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.; Summers AC; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.; Department of Psychology, Fordham University, Bronx, New York.; Symons JM; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Division of Nephrology, Seattle Children's Hospital, Seattle, Washington.; Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Boltshauser E; Department of Pediatric Neurology (emeritus), Children's University Hospital, Zürich, Switzerland.; Sayer JA; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.; Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Valente EM; Neurogenetics Lab, IRCCS Santa Lucia Foundation, Rome, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Doherty D; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

PARISI, MELISSA A; DINULOS, MARY BETH; LEPPIG, KATHLEEN A; SYBERT, VIRGINIA P; ENG, CHARIS; HUDGINS, LOUANNE

Journal of Medical Genetics. Jan 01, 2001 38(1):52-58

Ligon, Azra H; Moore, Steven D P; Parisi, Melissa A; Mealiffe, Matthew E; Harris, David J; Ferguson, Heather L; Quade, Bradley J; Morton, Cynthia C

Ligon, A H, Moore, S D P, Parisi, M A, Mealiffe, M E, Harris, D J, Ferguson, H L, Quade, B J & Morton, C C 2005, 'Constitutional rearrangement of the architectural factor HMGA2 : a novel human phenotype including overgrowth and lipomas', American Journal of Human Genetics, vol. 76, no. 2, pp. 340-8. https://doi.org/10.1086/427565

Bull MJ; Department of Pediatrics, Division of Developmental Medicine, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana.; Trotter T; Department of Pediatrics, Division of Developmental Medicine, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana.; Santoro SL; San Ramon Valley Primary Care Medical Group, San Ramon, California.; Christensen C; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts.; Grout RW; Division of Children's Health Services Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.; Burke LW; Berry SA; Geleske TA; Holm I; Hopkin RJ; Introne WJ; Lyons MJ; Monteil DC; Scheuerle A; Stoler JM; Vergano SA; Chen E; Hamid R; Downs SM; Grout RW; Cunniff C; Parisi MA; Ralston SJ; Scott JA; Shapira SK; Spire P

Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE