Web-based references relating to the number under the disk sign
1 A Schieppati 2008. Why rare disease are an important medical and social issue. Lancet 371 2039
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2 Ultrastruct Pathol. 2001 May-Jun;25(3):193-200. Meleg-Smith S. Alport disease: a review of the diagnostic difficulties.
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3 Proc Natl Acad Sci U S A. 2006 May 9; 103(19): 7321–7326. Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease
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4 Clinical evidence that Asperger's disorder is a mild form of autism. Author: Ariella Ritvo R, Ritvo ER, Guthrie D, Ritvo MJ. Journal: Compr Psychiatry; 2008 Jan-Feb ; 49(1):1-5. PubMed ID: 18063034
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5 Evaluation of a new computer intervention to teach people with autism or Asperger syndrome to recognize and predict emotions in others. Author: Silver M, Oakes P. Journal: Autism; 2001 Sep ; 5(3):299-316. PubMed ID: 11708589
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6 Bardet-Biedl syndrome: beyond the cilium. Journal: Pediatr Nephrol; 2007 Mar 15 ; ():. PubMed ID: 17357787.
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7 Hum Mol Genet. 2001 Oct 1;10(20):2293-9. Katsanis N. Exploring the molecular basis of Bardet-Biedl syndrome.
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8 Cancer Res. 2002 Feb 1;62(3):801-8. Rylova SN. The CLN3 gene is a novel molecular target for cancer drug discovery.
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9 J Child Neurol. 2001 Nov;16(11):870-1. Johnsen SD. Prednisone therapy in Becker's muscular dystrophy.
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10 Can J Cardiol. 2001 Oct;17(10):1061-9. Finsterer J. Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: a five-year follow-up.
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11 Lancet. 1997 Mar 8;349(9053):663-4. Pritchard-Jones K. Biology of Wilms' tumour.
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14 Images of tuberose sclerosis courtesy of Samuel Freire da Silva, MD ; no link available; page 639
15 Images of tuberose sclerosis courtesy of Samuel Freire da Silva, MD ; no link available; page 639
16 Clonal pluralization of self, relatives and others. Author: Ranjan S, Chandra PS, Gupta AK, Prabhu S. Journal: Psychopathology; 2007 ; 40(6):465-7. PubMed ID: 17848829
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17 Crit Care. 2001 Aug;5(4):232-5. Dejode JM. Capgras syndrome: a clinical manifestation of watershed cerebral infarct complicating the use of extracorporeal membrane oxygenation.
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18 Multiple sclerosis and Capgras' syndrome. Author: Sidoti V, Lorusso L. Journal: Clin Neurol Neurosurg; 2007 Nov ; 109(9):786-7. PubMed ID: 17629614.
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19 Swiss Surg. 2002;8(1):7-10. Altinli E. Castleman's disease masquerading as sigmoid colon tumor and Hodgkin lymphoma.
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20 Chediak-Higashi syndrome. Author: Kaplan J, De Domenico I, Ward DM. Journal: Curr Opin Hematol; 2008 Jan ; 15(1):22-9. PubMed ID: 18043242.
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21 Am J Med Genet. 2002 Feb 15;108(1):16-22. Karim MA. Apparent geno-type-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
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22 Annu Rev Genomics Hum Genet. 2001;2:299-341. Kelley RI. Inborn er-rors of sterol biosynthesis.
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23 Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. Journal: Am J Med Genet A; 2008 Jan 17 ; ():. PubMed ID: 18203151.
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24 Nat Genet. 2004 Jun;36(6):631-5. Epub 2004 May 16. Krantz ID, McCallum J, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. ; no link available; page 640
25 Transplantation. 2002 Jan 15;73(1):67-9. Schauer R. Successful liver transplantation of two brothers with crigler-najjar syndrome type 1 using a single cadaveric organ; no link available; page 640
26 Erotomania revisited: thirty-four years later. Author: Jordan HW, Lock-ert EW, Johnson-Warren M, Cabell C, Cooke T, Greer W, Howe G. Jour-nal: J Natl Med Assoc; 2006 May ; 98(5):787-93. PubMed ID: 16749657.
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27 J Intellect Disabil Res. 1996 Jun;40 ( Pt 3):275-8. Mann J. Homo-erotomania for a delusional parent: erotomania with Capgras and Fregoli syndromes in a young male with learning difficulties.
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28 Sangre (Barc). 1997 Jun;42(3):223-5 (Spanish). Escalante RM. [Diamond-Blackfan syndrome: pregnancy and heredity]
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29 Haematologica. 2006 Nov;91(11):1456-64. Cmejlova J, Dolezalova L, Pospisilova D, Petrtylova K, Petrak J, Cmejla R Translational efficiency in patients with Diamond-Blackfan anemia.
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30 Preimplantation HLA testing. Author: Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A. Journal: JAMA; 2004 May 5 ; 291(17):2079-85. PubMed ID: 15126435
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31 Simon Hatcher 2008. Assessment and management of medically unex-plained symptoms. BMJ 336 1124; no link available; page 641
32 Escitalopram in the treatment of multisomatoform disorder: a double-blind, placebo-controlled trial. Author: Muller JE, Wentzel I, Koen L, Nie-haus DJ, Seedat S, Stein DJ. Journal: Int Clin Psychopharmacol; 2008 Jan ; 23(1):43-8. PubMed ID: 18090507.
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33 Marianne Rosendal 2005 Management of medically unexplained symp-toms BMJ 2005;330:4-5
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34 Capgras syndrome and possible worlds or places where the real person and its imposter coexist. Author: Niiyama Y. Journal: Seishin Shinkeigaku Zasshi; 2004 ; 106(3):281-303. PubMed ID: 15164577
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35 Clonal pluralization of the self': a new form of delusional misidentifica-tion syndrome. Author: Vörös V, Tényi T, Simon M, Trixler M. Journal: Psy-chopathology; 2003 Jan-Feb ; 36(1):46-8. PubMed ID: 12679592
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36 Brain Dev. 2001 Dec;23(8):810-4. Roubertie A. Neurological presenta-tion of three patients with 22q11 deletion (CATCH 22 syndrome).
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37 Recenti Prog Med. 1999 Apr;90(4):213-5 (Italian). Bindi M. [Chronic erythremic myelosis (or the chronic form of Di Guglielmo's disease). A case report]
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38 Technology Insight: therapy for Duchenne muscular dystrophy-an op-portunity for personalized medicine? Journal: Nat Clin Pract Neurol; 2008 Feb 12 ; ():. PubMed ID: 18268530.
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39 Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Au-thor: Manzur AY, Kuntzer T, Pike M, Swan A. Journal: Cochrane Database Syst Rev; 2004 ; (2):CD003725. PubMed ID: 15106215
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40 Rev Port Cardiol. 2001 Sep;20(9):865-73 (English, Portuguese). Moura C. Ebstein's anomaly in neonates.
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41 SWISS MED WKLY 2005;135:269–281. C. H. Attenhofer Josta, H. M. Connolly, et al. Ebstein’s anomaly – review of a multifaceted congenital car-diac condition
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42 Int J Epidemiol. 1999 Aug;28(4):711-6. Naguib KK. Trisomy 18 in Kuwait.
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43 J Heart Lung Transplant. 2002 Feb;21(2):226-32. Charman SC. Assess-ment of survival benefit after lung transplantation by patient diagnosis.
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44 Image of skin in Ehlers-Danlos syndrome from OUP image bank. ; no link available; page 643
45 Image of skin in Ehlers-Danlos syndrome from OUP image bank. ; no link available; page 643
46 Korean J Radiol. 2001 Jul-Sep;2(3):121-31. Choe YH. MR imaging of con-genital heart diseases in adolescents and adults.
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47 Int J Hematol. 2001 Jul;74(1):33-41. Yamashita T. Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
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48 MARROW FAILURE SYNDROMES: Akiko Shimamura Inherited Bone Marrow Failure Syndromes: Molecular Features Hematology, Jan 2006; 2006: 63 - 71.
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49 Brain Inj. 2000 Dec;14(12):1101-5. Dalfen AK. Head injury, dissociation and the Ganser syndrome.
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50 [Gaucher disease in childhood] Author: Levrat V, Forest I, Fouilhoux A, Guffon N. Journal: Rev Med Interne; 2007 Oct ; 28 Suppl 2():S183-6. Pub-Med ID: 18228686.
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51 J Pediatr. 2001 Dec;139(6):862-4. Lee SY. Gaucher disease with pulmo-nary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
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52 Mund Kiefer Gesichtschir. 1999 May;3(3):158-64 (German). Schultze A. [Oral manifestations of Lpngerhans' cell histiocytosis. Therapeutic strategies involving oral and maxillofacial surgery]
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53 J Assoc Physicians India. 2000 Mar;48(3):346-8. Agarwal V. Langerhans cell histiocytosis.
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54 Hartnup disorder: unraveling the mystery. Author: Kraut JA, Sachs G. Journal: Trends Pharmacol Sci; 2005 Feb ; 26(2):53-5. PubMed ID: 15681018
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55 Biochem Biophys Res Commun. 2001 Jun 8;284(2):255-60. Nozaki J. Ho-mozygosity mapping to chromosome 5p15 of a gene responsible for Hart-nup disorder.
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56 Clin Exp Dermatol. 1994 Sep;19(5):407-8. Oakley A. Hartnup disease presenting in an adult.
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57 Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome). Author: Chen CP, Lin SP, Tzen CY, Hwu WL, Chern SR, Chuang CK, Chiang SS, Wang W. Journal: Genet Couns; 2007 ; 18(1):49-56. PubMed ID: 17515300.
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58 Idursulfase for the treatment of mucopolysaccharidosis II. Author: Clarke LA. Journal: Expert Opin Pharmacother; 2008 Feb ; 9(2):311-7. PubMed ID: 18201153
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59 J Neurol Neurosurg Psychiatry. 2000 Dec;69(6):773-9. Kirkwood SC. Subtle changes among presymptomatic carriers of the Huntington's disease gene.
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60 Laronidase for treating mucopolysaccharidosis type I. Author: El Dib RP, Pastores GM. Journal: Genet Mol Res; 2007 ; 6(3):667-74. PubMed ID: 18050087.
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61 Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Author: Schwabe GC,Journal: Hum Mu-tat; 2008 Feb ; 29(2):289-98. PubMed ID: 18022865
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62 Coronary Involvement in Infants with Kawasaki Disease Treated with Intravenous gamma-Globulin. Journal: Pediatr Cardiol; 2008 Jan ; 29(1):31-35. PubMed ID: 17917769.
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63 Coronary Involvement in Infants with Kawasaki Disease Treated with Intravenous gamma-Globulin. Journal: Pediatr Cardiol; 2008 Jan ; 29(1):31-35. PubMed ID: 17917769.
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64 Intravenous immunoglobulin for the treatment of Kawasaki disease in children. Author: Oates-Whitehead RM, Baumer JH, Haines L, Love S, Maconochie IK, Gupta A, Roman K, Dua JS, Flynn I.Journal: Cochrane Data-base Syst Rev; 2003 ; (4):CD004000. PubMed ID: 14584002
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65 Circulation. 2002 Feb 26;105(8):908-11. Greil GF. Coronary magnetic resonance angiography in adolescents and young adults with kawasaki dis-ease.
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66 Cleve Clin J Med. 2002;69 Suppl 2:SII69-78. Barron KS Kawasaki disease: etiology, pathogenesis, and treatment; no link available; page 646
67 Delayed diagnosis of Kawasaki disease: what are the risk factors? Author: Minich LL, Sleeper LA, Atz AM, McCrindle BW, Lu M, Colan SD, Printz BF, Klein GL, Sundel RP, Takahashi M, Li JS, Vetter VL, Newburger JW, Pediat-ric Heart Network Investigators . Journal: Pediatrics; 2007 Dec ; 120(6):e1434-40. PubMed ID: 18025079.
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68 Kushner H 2008. The Art of Medicine. Lancet 371 552
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69 Neurology. 2001 Aug 28;57(4):733-5. Yamanaka G. Tongue atrophy in facioscapulohumeral muscular dystrophy.
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70 J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):114-6. van der Kooi AJ. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.
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71 Fixation of winged scapula in facioscapulohumeral muscular dystrophy. Author: Giannini S, Faldini C, Pagkrati S, Grandi G, Digennaro V, Luciani D, Merlini L. Journal: Clin Med Res; 2007 Sep ; 5(3):155-62. PubMed ID: 18056023
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72 preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. Author: Jeong TS, Lee JH, Kim S, Kim JH, Tootla RG. Journal: Pediatr Dent; 2006 Jul-Aug ; 28(4):341-4. PubMed ID: 16903443
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73 J Am Board Fam Pract. 2002 Jan-Feb;15(1):50-4. Khotianov N. Lewy body dementia: case report and discussion.
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74 J Am Soc Echocardiogr. 2001 Oct;14(10):1033-5. Ananthasubramaniam K. Giant left atrium secondary to tight mitral stenosis leading to acquired Lutembacher syndrome: a case report with emphasis on role of echocardi-ography in assessment of Lutembacher syndrome.
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75 Fragile X syndrome with anxiety disorder and exceptional verbal intelli-gence. Journal: Am J Med Genet A; 2008 Jan 17 ; ():. PubMed ID: 18203169.
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76 Mol Med Today. 2000 May;6(5):193-8. Kooy RF. Fragile X syndrome at the turn of the century.
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77 Image of Lewy body Courtesy of NLM.
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78 Early Discriminatory Diagnosis of Dementia with Lewy Bodies. The Emerging Role of CSF and Imaging Biomarkers. Dement Geriatr Cogn Dis-ord; 2008 Jan 17 ; 25(3):195-205. PubMed ID: 18204253.
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79 EEG comparisons in early Alzheimer's disease, dementia with Lewy bod-ies and Parkinson's disease with dementia patients with a 2-year follow-up. Journal: Brain; 2008 Jan 17 ; ():. PubMed ID: 18202105.
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80 Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Author: Lynch HT, Silva E, Snyder C, Lynch JF. Journal: Breast J; 2008 Jan-Feb ; 14(1):3-13. PubMed ID: 18086272
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81 J Am Soc Echocardiogr. 2001 Oct;14(10):1033-5. Ananthasubramaniam K. Giant left atrium secondary to tight mitral stenosis leading to acquired Lutembacher syndrome: a case report with emphasis on role of echocardi-ography in assessment of Lutembacher syndrome.
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82 Am J Orthop. 2000 Feb;29(2):115-8. Biyani A. Complications in the man-agement of complex Monteggia-equivalent fractures in adults.
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83 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. Author: Montańo AM, Tomatsu S, Gottesman GS, Smith M, Orii T. Journal: J Inherit Metab Dis; 2007 Apr ; 30(2):165-74. PubMed ID: 17347914
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84 Moyamoya disease] Author: Tokunaga K, Date I. Journal: Brain Nerve; 2008 Jan ; 60(1):37-42. PubMed ID: 18232331.
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85 Moyamoya disease] Author: Tokunaga K, Date I. Journal: Brain Nerve; 2008 Jan ; 60(1):37-42. PubMed ID: 18232331.
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86 [Presentation of Niemann-Pick type C disease with psychiatric distur-bance in an adult. Tyvaert L, Journal: Rev Neurol (Paris); 2005 Mar ; 161(3):318-22. PubMed ID: 15800453.
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87 Niemann-Pick Disease
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88 Noonan syndrome: psychological and psychiatric aspects. Author: Ver-hoeven W, Wingbermühle E, Egger J, Van der Burgt I, Tuinier S. Journal: Am J Med Genet A; 2008 Jan 15 ; 146(2):191-6. PubMed ID: 18080322.
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89 Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Neel BG. Journal: Cancer Res; 2004 Dec 15 ; 64(24):8816-20. PubMed ID: 15604238
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90 Electrocardiography in Noonan syndrome PTPN11 gene mutation-phenotype characterization. Journal: Am J Med Genet A; 2008 Jan 17 ; ():. PubMed ID: 18203203.
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91 Patau Syndrome
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92 [Frontotemporal dementia]
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93 Changes in Dietary or Eating Behavior in Frontotemporal Dementia Ver-sus Alzheimer's Disease. Journal: Am J Alzheimers Dis Other Demen; 2008 Jan 15 ; ():. PubMed ID: 18198236.
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94 Psychotic Symptoms in Frontotemporal Dementia: Prevalence and Re-view. Journal: Dement Geriatr Cogn Disord; 2008 Jan 17 ; 25(3):206-211. PubMed ID: 18204254.
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95 A 6-month, open-label study of memantine in patients with frontotem-poral dementia. Journal: Int J Geriatr Psychiatry; 2008 Jan 22 ; ():. PubMed ID: 18213609
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96 Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction. Author: Asai T, Nagata A, Shingu K. Journal: Pae-diatr Anaesth; 2008 Jan ; 18(1):77-80. PubMed ID: 18095971.
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97 Ann Plast Surg. 1998 Jul;41(1):75-80. Szwajkun P. The "Taiwanese giant": hormonal and genetic influences in fibrous dysplasia.
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98 J Pediatr Endocrinol Metab. 1998 Jan-Feb;11(1):77-81. Schmidt H. Secon-dary central precocious puberty in a girl with McCune-Albright syndrome responds to treatment with GnRH analogue.
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99 Minerva Stomatol. 1998 Jan-Feb;47(1-2):37-44 (Italian). Mandrioli S. [Fi-brous dysplasia. The clinico-therapeutic picture and new data on its etiol-ogy. A review of the literature]
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100 Dr Thomas Tracy's image of Meckel's Diverticulum, by kind permission, via Ahmad Mafi--for all subsequent editions, and electronic texts
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101 Diagnostic Accuracy of Consensus Diagnostic Criteria for Frontotem-poral Dementia in a Memory Clinic Population. Journal: Dement Geriatr Cogn Disord; 2008 Jan 4 ; 25(2):157-164. PubMed ID: 18176077
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102 Glycogen storage disease types I and II: treatment updates. Author: Koeberl DD, Kishnani PS, Chen YT. Journal: J Inherit Metab Dis; 2007 Apr ; 30(2):159-64. PubMed ID: 17308886.
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103 Kleine-Levin syndrome in a boy with Prader-Willi syndrome. Author: Gau SF, Soong WT, Liu HM, Hou JW, Tsai WY, Chiu YN, Yeh YC, Wang PJ, Wang TR. Journal: Sleep; 1996 Jan ; 19(1):13-7. PubMed ID: 8650457
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104 J Intellect Disabil Res. 2002 Jan;46(Pt 1):41-50. Descheemaeker MJ. Prader-Willi syndrome: new insights in the behavioural and psychiatric spec-trum.
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105 Ann Otol Rhinol Laryngol. 2002 Jan;111(1):68-76. Kaberos A. Audi-ological assessment in Ramsay Hunt syndrome.
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106 Steroid and antiviral treatment for Bells Palsy 2008. N Hato. Lancet 1818 371
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107 [Ramsay-Hunt syndrome] Author: Martínez Oviedo A, Lahoz Zamarro MT, Uroz del Hoyo JJ. Journal: An Med Interna; 2007 Jan ; 24(1):31-4. PubMed ID: 17373867.
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108 Understanding Rett Disorder. Journal: J Intellect Disabil Res; 2007 May ; 51(5):406-407. PubMed ID: 17391257.
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109 Arch Dis Child. 2001 Jul;85(1):29-37. Julu PO. Characterisation of breathing and associated central autonomic dysfunction in the Rett disor-der.
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110 Reye's syndrome: the case for a causal link with aspirin. Author: Glas-gow JF. Journal: Drug Saf; 2006 ; 29(12):1111-21. PubMed ID: 17147458.
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111 MS-MLPA is a specific and sensitive technique for detecting all chromo-some 11p15.5 imprinting defects of BWS and SRS in a single-tube experi-ment. Journal: Eur J Hum Genet; 2008 Jan 23 ; ():. PubMed ID: 18212817
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112 GENOMIC IMPRINTING : A TALK WITH DAVID HAIG
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113 Silver-Russell syndrome and its genetic origins. Author: Rossignol S. Journal: J Endocrinol Invest; 2006 ; 29(1 Suppl):9-10. PubMed ID: 16615300.
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114 From gene to diseases; hypokalemic periodic paralysis. Author: Links TP, Ginjaar HB, van der Hoeven JH. Journal: Ned Tijdschr Geneeskd; 2004 May 22 ; 148(21):1035-8. PubMed ID: 15185439
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115 Rinsho Shinkeigaku. 2001 Jul;41(7):397-401 (Japanese). Katsuno M. [A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree]
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116 The Italian National Survey for Prader-Willi syndrome: An epidemi-ologic study. Journal: Am J Med Genet A; 2008 Jan 17 ; ():. PubMed ID: 18203198.
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117 Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome. Author: Ninomiya S, Yokoyama Y, Kawakami M, Une T, Maruyama H, Morishima T. Journal: Pediatr Int; 2005 Oct ; 47(5):541-5. PubMed ID: 16190961.
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118 Glucocorticoid Responsiveness in PTSD: Evidence of Epigenetic Ori-gins? Rachel Yehuda, PhD, Division of Traumatic Stress Studies, Mount Sinai School of Medicine, Bronx Veterans Affairs, New York, NY
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119 Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period. Author: Kaati G, Bygren LO, Edvinsson S. Journal: Eur J Hum Genet; 2002 Nov ; 10(11):682-8. Pub-Med ID: 12404098.
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120 Changes to the genome that do not affect DNA sequence
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121 Reye's syndrome in the United States from 1981 through 1997. Author: Belay ED, Bresee JS, Holman RC, Khan AS, Shahriari A, Schonberger LB. Journal: N Engl J Med; 1999 May 6 ; 340(18):1377-82. PubMed ID: 10228187.
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122 Archives of Disease in Childhood 2003;88:1015-1016--A novel presen-tation of juvenile idiopathic arthropathy. L Dyet
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123 Evaluation of the Presentation of Systemic Onset Juvenile Rheumatoid Arthritis: Data from the Pennsylvania Systemic Onset Juvenile Arthritis Reg-istry (PASOJAR). Journal: J Rheumatol; 2007 Dec 15 ; ():. PubMed ID: 18085728
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124 Postgrad Med J. 2002 Feb;78(916):97-8. Stoica GS. Adult Still's disease and respiratory failure in a 74 year old woman.
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125 Macrophage Activation Syndrome in a Child with Systemic Juvenile. Rheumatoid Arthritis. J Korean Med Sci 2005; 20: 695-8 ISSN 1011-8934
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126 Eur Heart J. 1995 Oct;16(10):1448-50. Zenagui D. Atypical presentation of adult Still's disease mimicking acute bacterial endocarditis.
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127 Painful childhood: children living with juvenile arthritis. Author: Guell C. Journal: Qual Health Res; 2007 Sep ; 17(7):884-92. PubMed ID: 17724100
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128 T Bongarts 2008. Tocilizumab for rheumatoid and juvenile idiopathic arthritis. Lancet 371 961. Report of 2 randomized trials.
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129 Intra-articular triamcinolone: new indication. Juvenile idiopathic arthri-tis: several months of relief. Journal: Prescrire Int; 2007 Dec ; 16(92):242. PubMed ID: 18092405.
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130 Synovectomy of the hip in patients with juvenile rheumatoid arthritis. Author: Carl HD, Schraml A, Swoboda B, Hohenberger G. Journal: J Bone Joint Surg Am; 2007 Sep ; 89(9):1986-92. PubMed ID: 17768196
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131 Ann Rheum Dis. 2001 Nov;60 Suppl 3:iii55-7. Kraetsch HG. Successful treatment of a small cohort of patients with adult onset of Still's disease with infliximab: first experiences.
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132 Quality of Life After TKA for Patients With Juvenile Rheumatoid Ar-thritis. Author: Jolles BM, Bogoch ER. Journal: Clin Orthop Relat Res; 2008 Jan ; 466(1):167-78. PubMed ID: 18196390.
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133 Biol Psychiatry. 2000 May 15;47(10):851-7. Murphy TK. On defining Sy-denham's chorea: where do we draw the line?
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134 Brain Dev. 2002 Mar;24(2):73-6. Genel F. Sydenham's chorea: clinical findings and comparison of the efficacies of sodium valproate and car-bamazepine regimens.
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135 Tolosa-Hunt syndrome misdiagnosed as sinusitis complication. Author: Lachanas VA, Karatzias GT, Tsitiridis I, Panaras I, Sandris VG. Journal: J Laryngol Otol; 2008 Jan ; 122(1):97-9. PubMed ID: 18198008.
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136 Treacher Collins syndrome: comprehensive evaluation and treatment. Author: Posnick JC, Tiwana PS, Costello BJ. Journal: Oral Maxillofac Surg Clin North Am; 2004 Nov ; 16(4):503-23. PubMed ID: 18088751.
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137 Spontaneous final height in Turner's syndrome in Brazil. Author: de Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra-Jr G, Maciel-Guerra AT. Journal: J Pediatr Endocrinol Metab; 2007 Nov ; 20(11):1207-14. Pub-Med ID: 18183792.
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138 J Pediatr Endocrinol Metab. 2001 Jul;14 Suppl 2:959-65. Guarneri MP. Turner's syndrome.
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139 Endocrine. 2001 Jun;15(1):5-13. Bramswig JH. Long-term results of growth hormone therapy in Turner syndrome.
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140 Dental findings in a child with glycogen storage disease type IA. Author: Avsar A. Journal: Quintessence Int; 2007 Jan ; 38(1):e36-40. PubMed ID: 17508073.
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141 Transplantation. 2001 Jul 27;72(2):343-4. Gossmann J. Multiple adeno-mas and hepatocellular carcinoma in a renal transplant patient with glyco-gen storage disease type 1a (von Gierke disease).
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142 Mol Biol Cell. 1999 Aug;10(8):2655-68. Balajee AS. The Werner syn-drome protein is involved in RNA polymerase II transcription.
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143 Journal of the American Geriatrics Society Volume 56 Issue 1 Page 173-174, January 2008 &:The Lancet 1997; 350:1365. DOI:10.1016/S0140-6736(05)65135-5. Pioglitazone-reduced insulin resistance in patient with Werner syndrome
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144 Wiskott-Aldrich syndrome.
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145 Curr Allergy Asthma Rep. 2001 Sep;1(5):430-7. Nonoyama S. Wiskott-Aldrich syndrome.
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Web-based references relating to the disc signs in footnotes, organised by page number
Definition of alcoholic proof
[Link]; page 639
