부산대학교 도서관

Tatsi, C; Gkourogianni, A; Mohnike, K; DeArment, D; Witchel, S; Andrade, AC; Markello, TC; Baron, J; Nilsson, O; Jee, YH

Journal of the Endocrine Society. 1(8):1006-1011

Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C.; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B.; Hart, P. Suzanne; White, James G.; Gahl, William A.; Huizing, Marjan

American Journal of Medical Genetics. Part A; June 2010, Vol. 152 Issue: 6 p1474-1483, 10p

Chatrathi HE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Collins JC; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute (T.C.M., D.R.A., W.A.G.), National Institutes of Health, Bethesda, MD.; Werner A; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Sharma P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.

Publisher: Lippincott, Williams & Wilkins Country of Publication: United States NLM ID: 7906255 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4563 (Electronic) Linking ISSN: 0194911X NLM ISO Abbreviation: Hypertension Subsets: MEDLINE

Mota A; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Waxman HK; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Hong R; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bioinformatics Program, Boston University, Boston, Massachusetts, United States of America.; Lagani GD; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Niu SY; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bertherat FL; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Malicdan CM; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Cheng CS; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bioinformatics Program, Boston University, Boston, Massachusetts, United States of America.; Beffert U; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Ho A; Department of Biology, Boston University, Boston, Massachusetts, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Kanca O; Andrews JC; Lee PT; Patel C; Braddock SR; Slavotinek AM; Cohen JS; Gubbels CS; Aldinger KA; Williams J; Indaram M; Fatemi A; Yu TW; Agrawal PB; Vezina G; Simons C; Crawford J; Lau CC; Chung WK; Markello TC; Dobyns WB; Adams DR; Gahl WA; Wangler MF; Yamamoto S; Bellen HJ; Malicdan MCV

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Nicoli ER; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Weston MR; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Hackbarth M; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Becerril A; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.; Baker PR 2nd; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Burke JD; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Dorward H; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Davids M; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Huang Y; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Adams DR; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Zerfas PM; Diagnostic and Research Services Branch, Office of Research Services, NIH, Bethesda, MD 20892, USA.; Chen D; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Markello TC; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Wood T; Metabolic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Elliott G; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Vu M; National Center for Translational Science, NIH, Rockville, MD 20850, USA.; Zheng W; National Center for Translational Science, NIH, Rockville, MD 20850, USA.; Garrett LJ; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Tifft CJ; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Day-Salvatore DL; Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.; Mindell JA; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. Electronic address: mindellj@ninds.nih.gov.; Malicdan MCV; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Burke EA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Sturgeon M; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Zastrow DB; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Fernandez L; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Prybol C; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Marwaha S; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Frothingham EP; Mid-Valley Children's Clinic, Albany, OR, USA.; Ward PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fresard L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Montgomery SB; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Fisher PG; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Harding B; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Carrington B; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Bishop K; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Elkahloun A; Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Wheeler MT; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 8406473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5260 (Electronic) Linking ISSN: 01677063 NLM ISO Abbreviation: J Neurogenet Subsets: MEDLINE

Taveira-DaSilva AM; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.; Markello TC; NIH Undiagnosed Diseases Program, Bethesda, Maryland, USA.; Kleiner DE; Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.; Jones AM; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.; Groden C; NIH Undiagnosed Diseases Program, Bethesda, Maryland, USA.; Macnamara E; NIH Undiagnosed Diseases Program, Bethesda, Maryland, USA.; Yokoyama T; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Gochuico BR; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Moss J; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Gu F; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Wu A; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Gordon MG; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Vlahos L; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Macnamara S; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Burke E; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Malicdan MC; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Adams DR; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Toro C; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Markello TC; Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA. markellot@mail.nih.gov.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Chao HT; Section of Child Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Davids M; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Burke E; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Pappas JG; Department of Pediatrics, New York University Langone Medical Center, New York, NY 10016, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; McCarty AJ; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Davis T; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Wolfe L; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Toro C; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Tifft C; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77030, USA.; Stong N; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.; Johnson TK; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Warr CG; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Yamamoto S; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Adams DR; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Markello TC; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Gahl WA; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.; Wangler MF; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: mw147467@bcm.edu.; Malicdan MCV; Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: maychristine.malicdan@nih.gov.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE