Web-based references relating to the number under the disk sign
1 Ultrastruct Pathol. 2001 May-Jun;25(3):193-200. Meleg-Smith S. Alport disease: a review of the diagnostic difficulties.
[Link]; page 638
2 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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3 Genomics. 1998 Sep 1;52(2):219-22. Hoang EH. Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome.
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4 Hum Mol Genet. 2001 Oct 1;10(20):2293-9. Katsanis N. Exploring the molecular basis of Bardet-Biedl syndrome.
[Link]; page 638
5 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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6 J Child Neurol. 2001 Nov;16(11):870-1. Johnsen SD. Prednisone therapy in Becker's muscular dystrophy.
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7 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.
[Link]; page 638
8 Lancet. 1997 Mar 8;349(9053):663-4. Pritchard-Jones K. Biology of Wilms' tumour.
[Link]; page 638
9 Tuberous sclerosis--eMedicine
[Link]; page 638
10 We thank Mr CN ChauFRCS for permission to reproduce this image.
[Link]; page 639
11 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.
[Link]; page 640
12 Swiss Surg. 2002;8(1):7-10. Altinli E. Castleman's disease masquerading as sigmoid colon tumor and Hodgkin lymphoma.
[Link]; page 640
13 Am J Med Genet. 2002 Feb 15;108(1):16-22. Karim MA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
[Link]; page 640
14 Annu Rev Genomics Hum Genet. 2001;2:299-341. Kelley RI. Inborn errors of sterol biosynthesis.
[Link]; page 640
15 Am J Ment Retard. 2002 Mar;107(2):146-54. Hyman P. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome.
[Link]; page 640
15 Psychiatry. 2000 Summer;63(2):208-13. Allen JR. A disturbed child's use of a public event: Cotard's syndrome in a ten-year-old.
[Link]; page 640
16 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.
[Link]; page 640
17 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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18 Sangre (Barc). 1997 Jun;42(3):223-5 (Spanish). Escalante RM. [Diamond-Blackfan syndrome: pregnancy and heredity]
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19 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
[Link]; page 640
20 Marianne Rosendal 2005 Management of medically unexplained symptoms BMJ 2005;330:4-5
[Link]; page 641
21 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
[Link]; page 641
22 Clonal pluralization of the self': a new form of delusional misidentification syndrome. Author: Všršs V, TŽnyi T, Simon M, Trixler M. Journal: Psychopathology; 2003 Jan-Feb ; 36(1):46-8. PubMed ID: 12679592
[Link]; page 641
23 Brain Dev. 2001 Dec;23(8):810-4. Roubertie A. Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).
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24 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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25 Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Author: Manzur AY, Kuntzer T, Pike M, Swan A. Journal: Cochrane Database Syst Rev; 2004 ; (2):CD003725. PubMed ID: 15106215
[Link]; page 642
26 Rev Port Cardiol. 2001 Sep;20(9):865-73 (English, Portuguese). Moura C. Ebstein's anomaly in neonates.
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27 Int J Epidemiol. 1999 Aug;28(4):711-6. Naguib KK. Trisomy 18 in Kuwait.
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28 J Heart Lung Transplant. 2002 Feb;21(2):226-32. Charman SC. Assessment of survival benefit after lung transplantation by patient diagnosis.
[Link]; page 642
29 Korean J Radiol. 2001 Jul-Sep;2(3):121-31. Choe YH. MR imaging of congenital heart diseases in adolescents and adults.
[Link]; page 644
30 Int J Hematol. 2001 Jul;74(1):33-41. Yamashita T. Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
[Link]; page 644
31 Brain Inj. 2000 Dec;14(12):1101-5. Dalfen AK. Head injury, dissociation and the Ganser syndrome.
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32 J Pediatr. 2001 Dec;139(6):862-4. Lee SY. Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
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33 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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34 J Assoc Physicians India. 2000 Mar;48(3):346-8. Agarwal V. Langerhans cell histiocytosis.
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35 Biochem Biophys Res Commun. 2001 Jun 8;284(2):255-60. Nozaki J. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.
[Link]; page 644
36 Clin Exp Dermatol. 1994 Sep;19(5):407-8. Oakley A. Hartnup disease presenting in an adult.
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37 Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II. Author: Zhang CY, Li LY, Liu SF, Fu JJ, Lu GX. Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun ; 21(3):269-71. PubMed ID: 15192834
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38 Biochem Biophys Res Commun. 2001 Jun 8;284(2):255-60. Nozaki J. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.
[Link]; page 644
39 J Neurol Neurosurg Psychiatry. 2000 Dec;69(6):773-9. Kirkwood SC. Subtle changes among presymptomatic carriers of the Huntington's disease gene.
[Link]; page 646
40 Am J Respir Cell Mol Biol. 2001 Nov;25(5):577-83. Zariwala M. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
[Link]; page 646
41 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 Database Syst Rev; 2003 ; (4):CD004000. PubMed ID: 14584002
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42 Circulation. 2002 Feb 26;105(8):908-11. Greil GF. Coronary magnetic resonance angiography in adolescents and young adults with kawasaki disease.
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43 Circulation. 2002 Feb 26;105(8):908-11. Greil GF. Coronary magnetic resonance angiography in adolescents and young adults with kawasaki disease.
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44 Neurology. 2001 Aug 28;57(4):733-5. Yamanaka G. Tongue atrophy in facioscapulohumeral muscular dystrophy.
[Link]; page 648
45 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.
[Link]; page 648
46 J Am Board Fam Pract. 2002 Jan-Feb;15(1):50-4. Khotianov N. Lewy body dementia: case report and discussion.
[Link]; page 648
47 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 echocardiography in assessment of Lutembacher syndrome.
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48 Mol Med Today. 2000 May;6(5):193-8. Kooy RF. Fragile X syndrome at the turn of the century.
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49 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 echocardiography in assessment of Lutembacher syndrome.
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50 Am J Orthop. 2000 Feb;29(2):115-8. Biyani A. Complications in the management of complex Monteggia-equivalent fractures in adults.
[Link]; page 650
51 Am J Orthop. 2000 Feb;29(2):115-8. Biyani A. Complications in the management of complex Monteggia-equivalent fractures in adults.
[Link]; page 650
52 [Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult. Tyvaert L, Journal: Rev Neurol (Paris); 2005 Mar ; 161(3):318-22. PubMed ID: 15800453.
[Link]; page 650
53 Am J Hum Genet. 1998 Jul;63(1):52-4. Greer WL. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
[Link]; page 650
54 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
[Link]; page 650
55 Ann Plast Surg. 1998 Jul;41(1):75-80. Szwajkun P. The "Taiwanese giant": hormonal and genetic influences in fibrous dysplasia.
[Link]; page 651
56 J Pediatr Endocrinol Metab. 1998 Jan-Feb;11(1):77-81. Schmidt H. Secondary central precocious puberty in a girl with McCune-Albright syndrome responds to treatment with GnRH analogue.
[Link]; page 651
57 Minerva Stomatol. 1998 Jan-Feb;47(1-2):37-44 (Italian). Mandrioli S. [Fibrous dysplasia. The clinico-therapeutic picture and new data on its etiology. A review of the literature]
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58 Hum Mutat. 1998;11(5):413. Beesley CE. The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
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59 J Intellect Disabil Res. 2002 Jan;46(Pt 1):41-50. Descheemaeker MJ. Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
[Link]; page 652
60 Ann Otol Rhinol Laryngol. 2002 Jan;111(1):68-76. Kaberos A. Audiological assessment in Ramsay Hunt syndrome.
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61 Eur J Hum Genet. 2001 Mar;9(3):231-6. Girard M. Parental origin of de novo MECP2 mutations in Rett syndrome.
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62 Arch Dis Child. 2001 Jul;85(1):29-37. Julu PO. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder.
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63 Indian J Pediatr. 2001 May;68(5):423-6. Johnston MV. Developmental disorders of activity dependent neuronal plasticity.
[Link]; page 652
64 GENOMIC IMPRINTING : A TALK WITH DAVID HAIG
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65 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
[Link]; page 652
66 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]
[Link]; page 652
67 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.
[Link]; page 653
68 Glucocorticoid Responsiveness in PTSD: Evidence of Epigenetic Origins? Rachel Yehuda, PhD, Division of Traumatic Stress Studies, Mount Sinai School of Medicine, Bronx Veterans Affairs, New York, NY
[Link]; page 653
69 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. PubMed ID: 12404098.
[Link]; page 653
70 Changes to the genome that do not affect DNA sequence
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71 Archives of Disease in Childhood 2003;88:1015-1016--A novel presentation of juvenile idiopathic arthropathy. L Dyet
[Link]; page 654
72 Postgrad Med J. 2002 Feb;78(916):97-8. Stoica GS. Adult Still's disease and respiratory failure in a 74 year old woman.
[Link]; page 654
73 Eur Heart J. 1995 Oct;16(10):1448-50. Zenagui D. Atypical presentation of adult Still's disease mimicking acute bacterial endocarditis.
[Link]; page 654
74 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.
[Link]; page 654
75 Biol Psychiatry. 2000 May 15;47(10):851-7. Murphy TK. On defining Sydenham's chorea: where do we draw the line?
[Link]; page 654
76 Brain Dev. 2002 Mar;24(2):73-6. Genel F. Sydenham's chorea: clinical findings and comparison of the efficacies of sodium valproate and carbamazepine regimens.
[Link]; page 654
77 J Pediatr Endocrinol Metab. 2001 Jul;14 Suppl 2:959-65. Guarneri MP. Turner's syndrome.
[Link]; page 655
78 Endocrine. 2001 Jun;15(1):5-13. Bramswig JH. Long-term results of growth hormone therapy in Turner syndrome.
[Link]; page 655
79 Clin Endocrinol (Oxf). 2001 Aug;55(2):227-31. Elsheikh M. Hormone replacement therapy may improve hepatic function in women with Turner's syndrome.
[Link]; page 655
80 Transplantation. 2001 Jul 27;72(2):343-4. Gossmann J. Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease).
[Link]; page 655
81 Mol Biol Cell. 1999 Aug;10(8):2655-68. Balajee AS. The Werner syndrome protein is involved in RNA polymerase II transcription.
[Link]; page 655
82 Genes Cells. 2001 May;6(5):421-30. Sakamoto S. Werner helicase relocates into nuclear foci in response to DNA damaging agents and co-localizes with RPA and Rad51.
[Link]; page 655
83 Curr Allergy Asthma Rep. 2001 Sep;1(5):430-7. Nonoyama S. Wiskott-Aldrich syndrome.
[Link]; page 655
Web-based references relating to the disc signs in footnotes, organised by page number
Definition of alcoholic proof--Wikipedia
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