41. :: Department Of Medical Genetics :: Medical genetics), FCCMG Professor Emeritus, Department of Medical genetics Director,Alberta G., Kashtan CE, Pober B., Renieri A. alport syndrome and Mental http://www.fp.ucalgary.ca/medicalgenetics/pages/pages_faculty/brian_lowry.html

Dr. R. Brian Lowry Professor Emeritus, Department of Medical Genetics Director, Alberta Congenital Anomalies Surveillance System Tel: (403) 943-7699 Ext. 5500 Fax: (403) 943-0796 E-mail: brian.lowry@calgaryhealthregion.ca Research Interests I continue to study the frequency and trends of congenital anomalies in Alberta, using the database of the Alberta Congenital Anomalies Surveillance System (ACASS). The data on neural tube defects is being used in a multi province study to examine the effect of fortification of folic acid in flour which took place in Canada in 1998. The ACASS staff participated in a study of the completeness and accuracy of our data which was done in conjunction with the Health Surveillance Branch of Alberta Health and Wellness. ACASS data was used to help in the study of congenital foot deformities and their association with early amniocentesis (see Yoon et al). I am continuing my interest in the study of apparently new syndromes or new information on relatively newly described syndromes. Selected Publications Lowry R.B., Innes A.M., Bernier F.P., McLeod D.R., Greenberg C.R., Chudley A.E., Chodirker B., Marles S.L., Crumley M.J., Loredo-Osti J.C., Morgan K., Fujiwara T.M. Bowen-Conradi syndrome: a clinical and genetic study. Am. J. Med. Genet. 2003;120A(3):423-8.

42. Genetics And Genetic Engineering Albinism, alport syndrome. Angelman syndrome, Cystic Fibrosis. Ataxia, Downsyndrome. HHMI s Blazing a Genetic Trail, Birth defects and genetics. http://www.schools.ash.org.au/immanuel/genetics.htm

Genetics General Genetic engineering Human genetics Genetically modified food ... Cloning General Genetic Science Learning Center Genetics/Biotechnology Theme Biotechnology Australia Links to the Genetic World ... Mutant Fruit Flies: Exploratorium Exhibit Genetic engineering Biocapitalismwhat price the genetic revolution Biotechnology index page Council for Responsible Genetics Embracing Change with All Four Arms ... What is genetic engineering? Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Human genetics CogPrints: Cognitive Science Eprint Archive OMNI Subject Listing for Genetics American Journal of Human Genetics European Federation of Biotechnology ... What Is DNA and the Human Genome Project Backto Library Home Page 32 Morphett Road, Novar Gardens, South Australia 5040 Last revised 21st August 2003 URL for this page is http://www.schools.ash.org.au/immanuel/htm/genetics.htm Jenni van Wageningen jvanwageningen@immanuel.sa.edu.au

43. Centre For Human Genetics Seminars October 1999 Human genetics in the Greater UCL week by week. October 1999. Week starting Monday4 October. Tuesday 5 October 15.35 Recurrence of Disease in alport s syndrome http://www.gene.ucl.ac.uk/chg/semsoct99.html

Seminars related to Human Genetics in the Greater UCL week by week. October 1999 Week starting Monday 4 October Tuesday 5 October 15.35 Recurrence of Disease in Alport's Syndrome Dr S Feather, Pro R Risdon, Dr I Gordon, ICH Seminar Room, Renal Unit, Level 8, Southwood Bld, GOS 17.15 Identification of a Novel Subunit of AMP-Activated Protein Kinase Using the Two Hybrid System Dr C Thornton, Molecular Haematology Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH Week starting Monday 11 October Monday 11 October 13.00 DNA-PK, p53 and the Cellular Response to DNA Damage Dr Mike Hubank, Molecular Haematology Unit, ICH GOS Hospital Lecture Theatre Wednesday 13 October 12.00 The TSC1 and the TSC2 genes: Emerging mechanisms in the pathogenesis of Tuberous Sclerosis Prof Julian Sampson, Institute of Medical Genetics, University College Hospital of Wales, Cardiff. Room G35, ICRF, Lincoln's Inn Fields Week starting Monday 18 October Monday 18 October 13.00 Developmentally Activated Chromatin Subdomains and Transcriptional Regulation of the Human Beta-Globin Gene Locus Dr P Fraser, Babraham Institute, Cambridge University

44. Untitled Document Shows TB Molecular genetics of alport syndrome. Kidney int 1993;4338-44. http://www.aanefrologia.com/sito/Alport.htm

Ancora oggi rimane dubbia la esistenza di una forma autosomica dominante di Sindrome di Alport. Con il progredire della malattia compare assai frequentemente l'ipertensione arteriosa. Le caratteristiche delle differenti mutazioni presentate dal gene che codifica la sintesi della catena A5 del collagene IV rendono conto delle diverse caratteristiche del quadro clinico presentato dai singoli pazienti e dai loro familiari. I recenti progressi di biologia molecolare relativi allo studio genetico della sindrome di Alport, possono spesso permettere una diagnosi diretta di malattia per mezzo della identificazione della specifica mutazione presentata dai pazienti. BIBLIOGRAFIA 1-Sessa A, Renieri A, Battaglia C: Alport syndrome: clinical molecular and genetic aspects. J Nephrol 1994;7:102-116 2-Sessa A, Meroni M, Battini G: Hereditary nephritis. Contributions to Nephrology 1990;80:1-165 3-Tryggvason K, Zhou J, Hostikka S L, Shows T B: Molecular genetics of Alport syndrome. Kidney int 1993;43:38-44

45. Molecular Genetics Aims of the Molecular genetics Research Group. approach we have used on the haemophiliashas been broadened to include other diseases such as alport syndrome. http://www.kcl.ac.uk/depsta/memoge/moleculargenetics.html

Dr. Pete Green Head of Molecular Genetics Research Group Peter Green graduated from Cardiff in 1980 and completed his PhD on the molecular genetics of Aspergillus nidulans in 1984. He joined the department as a postdoc the same year working on mutation characterisation in the factor IX gene. He became a lecturer in the Division in 1991 Members of Molecular Genetics Group Lab Staff: Lab alumni Richard Bagnall Dr Naushin Waseem Theo Anagnostopoulos Aims of the Molecular Genetics Research Group The main focus of our grouphas been on the haemophilias and developing strategies to identify all mutations in the two coagulation factor genes responsible (f8 and f9). In recent years the approach we have used on the haemophilias has been broadened to include other diseases such as Alport syndrome. We have set up National mutation and pedigree databases for both haemophilias in collaboration with the UK haemophilia Centres The solid phase fluorescent chemical cleavage of mismatch technique for mutation scanning was developed in the lab and applied to SNP detection and scoring across large sequenced genomic DNA regions. This approach has led to novel insights into linkage disequilibrium blocks and recombination. Moleular Genetics Research Projects Haemophilia A mutation database project.

46. Molecular Genetics Publications (1999) Advances in genetics, vol 41. Plant KE, Green PM, Vetrie D Flinter FA(1999) Detection of mutations in COL4A5 in patients with alport syndrome. http://www.kcl.ac.uk/depsta/memoge/moleculargeneticspublications.html

Molecular Genetics Research Group Giannelli F (2001) Mitochondria and the quality of human gametes. (Letter) Am J Hum Genet, 68, 1535-1537. Giannelli F (2001) Gene mutations and pedigrees. Lancet, 358, s33. Giannelli F (2001 Christmas Disease. In: Encyclopedia of Genetics. S Brenner (ed). San Diego; London: Academic Press. 338. Giannelli F (2001) Hemophilia. In: Encyclopedia of genetics. S Brenner (ed). San Diego; London: Academic Press. 917-920. Green PM (2001) This bad blood. Lancet, 358, s34. Giannelli F (1997) The genetics of blood coagulation and haemostasis. In: Haemophilia and other inherited bleeding disorders. CR Rizza and Lowe GDO (ed). London: WB Saunders. 43-86. TOP Text Only Site Accessibility Contact ... Webmaster

47. Ustav Biologie A Lekarske Genetiky 2.LF UK A FNM Internal Grant Agency (IGA MZ ÈR) Molecular genetics diagnostics of Turner syndrome- method of in COL4A5 geny in patients with alport syndrome.(IGA 3783-3 http://ublg.lf2.cuni.cz/e_research.html

Research projects of the 2. School of Medicine "Longitudinal, comprehensive, clinical and genetic study of prenatal and postnatal development of patients and their families with the most serious inborn errors and inherited disorders. Projects from the IBMG that are encompassed in the below 2.School of Medicine research projects: Diagnosis of inborn and inherited glomerulal disorders Improvement of reproductive genetics Neurogenetic diagnosis of spinocerebellar ataxias and neurodegenerative disorders Genotype-phenotype correlations in neuromuscular diseases with a genetic component Molecular genetic diagnosis and prevention of thrombembolic conditions. CFTR gene mutation analysis in human infertility, gastrointestinal and lung diseases of yet unknown etiology. Differential diagnosis of familiar nephropathies: clinical and molecular genetic analyses Genotype-phenotype correlations in microdeletion syndromes Molecular genetic aspects of cell signaling in oncogenesis: the influence of tyrosinekinases on cell proliferation See also Detailed description (in Czech) Detailed description of particular research projects of IBMG Centers CF Centrum Neurogenetic Centrum Laboratory of reproductive genetics Oncogenetic laboratory - Biological Unit ... List of grant projects of IBMG A/ FUNDING OF IBMG Funding of the center from budget of the 2nd Medical School of Charles University, Prague per year

48. VSpring Capital :: Management :: Advisors :: Albert Bertha He received his Ph.D. in genetics at Stanford University. specifically Hemochromatosis,Antithrombin III Deficiency, alport syndrome, Neurofibromatosis I http://www.vspring.com/man_adv_skolnick.html

External Advisors Mark Skolnick - CSO, Myriad Genetics, Inc. Dr. Skolnick co-founded Myriad Genetics, Inc. in 1991, where he is currently Chief Scientific Officer. Myriad Genetics is an emerging biopharmaceutical company focused on the development of therapeutic and diagnostic products that are based on the use of genomic and proteomic technologies. Myriad Genetics is currently seeking the genes which predispose to cancer, coronary heart disease, central nervous system disorders, obesity, osteoporosis, and asthma. At Myriad Genetics, Dr. Skolnick directed the group that cloned the breast cancer susceptibility gene, BRCA1, found the full-length sequence of BRCA2 and cloned the MMAC1 (PTEN) gene. Recently one of his groups at Myriad, under his direction, discovered a novel prostate cancer susceptibility gene. With Drs. Botstein and Davis, he conceptualized the use of restriction fragment length polymorphisms (RFLPs) to systematically pinpoint genetic traits on chromosomes. An updated version of this technology has been used to create a genetic map of the human genome, the first step in the human genome project. Dr. Skolnick received a Bachelor of Arts degree from UC Berkeley in Economics, where he also studied demography. He received his Ph.D. in genetics at Stanford University. Dr. Skolnick joined the University of Utah faculty in 1974. He holds positions in both the departments of Biology and Medical Informatics, where he is currently a professor.

49. 1° Casari G. (Milan) Molecular genetics of autosomal dominant medullary cystic FlinterF. (London) - Clinical diagnostic aspect of alport s syndrome; Karet FE http://utenti.lycos.it/FMRB/Programme.htm

Held under the auspices of the International Society of Nephrology st Course in Genetics and Renal Disease La Nunziata Center, Sestri Levante (Genova) November, 15-18 2000 Directors: Jean-Pierre Grunfeld (Paris), Rosanna Gusmano (Genova), Roberto Ravazzolo (Genova) NOVEMBER 15, WEDNESDAY Morning Session Grunfeld J.P. (Paris) - Introduction to the Course Winyard P.J.D. (London) - Molecular basis of embryonic kidney development Winyard P.J.D. (London) - The biology of renal dysplasia. Break Woolf A. (London) - Genetics of vescico-ureteral reflux Ellard S. (Exeter) - Mutation of HNF b gene in diverse renal malformation Afternoon Session De Marchi M. (Turin) - Molecular diagnosis of genetic diseases: clinical applications (or consequences) Hildebrandt F. (Freiburg) - New methods in molecular genetics Gubler M.C. (Paris) - Prenatal diagnosis of renal malformation and disease Workshops Session Winyard P.J.D. (London) - The functional roles of TGF b and PAX2 in human renal dysplasia Ellard S (Exeter) - Practical methods in mutation detection Woolf A. (London)

50. Useful Links Alliance http//www.alagille.org; alport syndrome Home Page http http//www.csmc.edu/genetics/skeldys/default com/hotsprings/2179;Joubert syndrome Foundation Corp http://www.genetichealthvic.net.au/pages/links.html

interstate Australasian genetic service genetic societies support group sites some genetic educational sites ... Home Useful links General Website Links Better Health Channel - http://www.betterhealth.vic.gov.au/ Department of Human Services - http://www.dhs.vic.gov.au/ GENZYME Therapeutics - http://www.genzyme.com.au/ Haemscreen - http://haemscreen.com/ Health On Line - http://www.health.abol.net.au/ Health Insurance Commission - http://www.hic.gov.au/ McMillan Shakespeare - http://www.mcms.com.au/ Medical Practitioners Board Of Victoria - http://www.mpbofv.org.au/ Monash Medical Centre - http://www.southernhealth.org.au/ Murdoch Childrens Research Institute - http://murdoch.rch.unimelb.edu.au/ OMIM: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM Possum - http://www.possum.net.au/ Royal Children's Hospital - http://www.rch.unimelb.edu.au/ Royal Women's Hospital - http://www.rch.unimelb.edu.au/index-ext.html Southern Health - http://www.southernhealth.org.au/ Specimen Collection - http://www.rch.unimelb.edu.au/lab services/specimen.collection.xls

51. CIN'2003. Suzanne Meleg-Smith. Enfermedad De Alport: Un Diagnóstico Difícil Translate this page 15.- Mochizuki, T., et al., Identification of mutations in the A3(IV) and A4(IV)collagen genes in autosomal recessive alport syndrome. Nature genetics, 1994. http://www.uninet.edu/cin2003/conf/smelegs/smelegs.html

Discussion Board Paneles de Discussión Paneais de Discussio Free Papers ... Voltar ao inicio cin2003 Enfermedad de Alport: un diagnóstico difícil Suzanne Meleg-Smith, MD Professor, Pathology. Head, Renal Pathology Tulane University, New Orleans, LA. USA ssmith1@tulane.edu Investigaciones recientes han demostrado el defecto básico responsable de la Enfermedad de Alport (EA): mutaciones en los genes del colágeno tipo IV. Al mismo tiempo, como el diagnóstico sigue representando un desafío frecuente tanto para el nefrólogo como para el patólogo, analizaré y trataré de aclarar algunas de las dificultades clínicas y patológicas que se presentan en esta enfermedad. Los temas a tratar son: Definición Presentación clínica Membrana basal glomerular (MBG) normal: colágeno tipo IV Aspectos genéticos de la EA La biopsia renal Correlacion clínico-patológica Definición La EA es causada por un defecto congénito del colágeno tipo IV, afectando la membrana basal en diversas localizaciones, especialmente en el glomérulo renal, resultando en presentaciones clínicas variables. Presentación clínica de la enfermedad de Alport (EA).

52. 105 Document(s) Found In Genealogy Causes of Hearing Loss and Hearing Loss in General alport syndrome (Source Boystown DHSOregon WWW Links and Resources The Oregon genetics Program WWW Links http://msfindit.statelib.wa.gov/oregon/search.asp?nb=0&as=0&tid=214

53. Hum. Mol. Genet. -- Abstracts: Lemmink Et Al. 3 (8): 1269 unrelated patients with sporadic or nonX-linked alport syndrome were screened heterozygousand another homozygous (Mochizuki et al., Nature genetics, in press http://hmg.oupjournals.org/cgi/content/abstract/3/8/1269

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Lemmink, H. H. Smeets, H. J. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome HH Lemmink, T Mochizuki, LP van den Heuvel, CH Schroder, A Barrientos, LA Monnens, BA van Oost, HG Brunner, ST Reeders and HJ Smeets Department of Pediatrics, University Hospital Nijmegen, The Netherlands. A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous domain of the type IV collagen alpha 3 (COL4A3) chain gene. The five 3'-exons of this gene, located on chromosome 2qter, were tested by single strand conformation polymorphism analysis and direct sequencing. One patient was heterozygous and another homozygous (Mochizuki et al., Nature Genetics, in

54. Hum. Mol. Genet. -- Abstracts: Knebelmann Et Al. 4 (4): 675 Human Molecular genetics, Vol 4, 675679, Copyright © 1995 by Oxford University anAlu sequence in the COL4A3 mRNA causing autosomal recessive alport syndrome. http://hmg.oupjournals.org/cgi/content/abstract/4/4/675

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Knebelmann, B. Antignac, C. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome B Knebelmann, L Forestier, L Drouot, S Quinones, C Chuet, F Benessy, J Saus and C Antignac INSERM U.423, Hopital Necker-Enfants Malades, Universite Rene Descartes Paris V, France. Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure, deafness, and ocular lesions. The alpha 3(IV) and alpha 4(IV) collagen genes have been recently shown to be involved in the less frequent autosomal recessive form. When screening lymphocyte COL4A3 mRNAs from Alport patients, we found a mutant whose transcripts were disrupted by a 74 bp insertion at the junction of exons IV or V and VI. The insertion derives from an antisense Alu element

55. Entrez PubMed and that a patient with anterior lenticonus associated with alport syndrome hada Collagen Type IV/genetics*; Collagen Type IV/metabolism*; Collagen Type IV http://www.biomedcentral.com/pubmed/12796257

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Arch Ophthalmol. 2003 Jun;121(6):846-50. Related Articles, Links Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. Ohkubo S, Takeda H, Higashide T, Ito M, Sakurai M, Shirao Y, Yanagida T, Oda Y, Sado Y.

56. Informagene - Dizionario Translate this page Bibliografia Tryggvason K. Molecular pathology and genetics of alport syndrome.Contributions to Nephrology 117, Karger, Basilea, 1996. Sessa A. et al. http://www.telethon.it/informagene/dettaglio_malattia.asp?id=72

57. Dysmorphic Child Referral Guidelines proteinuria and hematuria in alport syndrome, the need prolapse in Marfan syndrome,recurrent otitis PEDIATRIC DYSMORPHOLOGY/genetics SPECIALTY REFERRAL (In http://www.mamc.amedd.army.mil/Referral/guidelines/dev_ped_dysmorphic.htm

Attention Deficit Hyperactivity Disorder Cerebral Palsy Chromosomal Disorder Dysmorphic Child Malformation Syndrome Myelodysplasia Sensory Impairment, Profound Ventriculoperitoneal Shunts ... MAMC Intranet or WRMC Internet Referral Guidelines Guideline Updated: 24 February 2004 Specialty: Developmental Pediatrics Dysmorphic Child Referral Guideline Diagnosis/Definition Major and/or minor congenital malformations. A congenital malformation defined as major if it is of medical and/or cosmetic significance (e.g., cleft lip/cleft palate, congenital heart defect, hydrocephalus, hemihypertrophy, etc.). A minor congenital anomaly is one with little or no medical or cosmetic significance (e.g., fifth finger clinodactyly, single transverse palmar crease, and partial 2-3 syndactyly of the toes) but a minor anomaly may be a recognizable component of a specific malformation syndrome. Initial Diagnosis and Management Based upon the pregnancy history, family history, medical/surgical history, and physical examination, the diagnosis of a certain specific multiple malformation syndrome may become obvious. In many cases, however, it is difficult to definitively establish a recognizable syndrome for the child's physical and developmental findings.

58. Rural Nurse Organization Clinic Digital Library genetics Resources See also General genetics Resources GeneClinics HomepageAlport syndrome Access document. Online Mendelian Inheritance http://ruralnurseorganization-dl.slis.ua.edu/clinical/nephrology/glomerulonephri

Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Nephrological Clinical Procedure Resources General Nephrology Clinical Resources Alport Syndrome Patient/Family Resources The Merck Manual 17th Ed.-1999: Table of contents Chapter 230: Inherited and Congenital Renal Disorders: Table of contents Cystic Nephropathies: Access document Family Practice Handbook 4th Ed.-2001: Table of contents Chapter 8: Nephrology and Urology: Table of contents Proteinuria, Nephrotic Syndrome, and Nephritic Urine: Access document Glomerulonephritis and Nephritis: Access document Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents Alport Syndrome: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Alport Syndrome: Access document Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Alport Syndrome: Access document Atlases Atlas of Diseases of the Kidney Volume I: Table of contents Chapter 1 - Normal Vascular and Glomerular Anatomy: Access document (PDF) Chapter 3 - Heredofamilial and Congenital Glomerular Disorders: Access document (PDF) High Resolution Images for Volume 2: List of documents Pathology Resources Internet Pathology Lab for Medical Education (FSU Coll of Med): Table of contents Renal Pathology Index: List of documents Glomerulonephritis: List of documents Hereditary Nephritis (Alport's Syndrome), Microscopic:

59. OUP: Genetics Of Renal Disease: Flinter 8 Frances Flinter alport syndrome; 9 Anand K SaggarMalik Stefan Somlo 13 PasqualeStrazzullo Pietro Vuotto genetics of stone forming diseases; 14 David http://www.oup.co.uk/isbn/0-19-263146-2

VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences World's Classics UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Genetics of Renal Disease Edited by Frances Flinter , Clinical Geneticist, Guy's and St Thomas' NHS Trust and King's College London, UK, Eamonn R. Maher , Professor of Medical Genetics, University of Birmingham and Clinical Genetics Unit, Queen Elizabeth Medical Centre, Birmingham, UK, and Anand Saggar-Malik , Clinical Geneticist, St George's Hospital Medical School, London, UK Publication date: 22 January 2004 Series: Oxford Monographs on Medical Genetics Search for titles in the same series Ordering Individual customers order by phone, post, or fax

60. PUBLICATIONS 93 eds) MosbyYear Book, volume 221-14, 1993. Tryggvason K, Zhou J, Hostikka SL,Shows T. Molecular genetics of alport syndrome. Kidney Int 4338-44, 1993. http://www.oulu.fi/faculties/resea/biocente/publct93.html

PUBLICATIONS 1993 Ala-Korpela M, Hiltunen Y, Jokisaari J, Eskelinen S, Kiviniitty K, Savolainen MJ, Kesäniemi YA. A comparative study of 1H NMR lineshape fitting analyses and chemical lipid analyses of the lipoproteins fractions and total human blood plasma. NMR in Biomedicine 6:225-233, 1993. Apter D, Butzov T, Laughlin G, Vihko R, Yen SSC. Hyperandrogenism during puberty and adolescence, and its relationship to reproductive function in the adult female. In: Reproductive Medicine (Serono Symposium Publications from Raven Press, Volume 93). Gaetano Frajese, Emil Steinberger and Luis J. Rodriguez-Rigau, eds. Raven Press, New York, N.Y. 1993, pp. 265-275, 1993 Autio-Harmainen H, Karttunen T, Hurskainen T, Höyhtyä M, Kauppila A, Tryggvason K. Expression of 72 kDa type IV collagenase in benign and malignant ovarian tumors. Lab Invest 69:312-321, 1993. Frick MH, Huttunen J, Huvinen M, Katila M, Kesäniemi YA et al. Suomen Sisätautilääkärien Yhdistyksen, Suomen Kardiologisen seuran, Suomen Sydäntautiliiton, Kunnallislääkärit-yhdistyksen ja Suomen teol-lisuus-lääkäriyhdistyksen työryhmän suositus: Aikuisten hyperlolesterolemian ja muiden hypolepidemi-oiden diagnostiikka ja hoito 1992. Duodecim:109:205-225, 1993. Hakalahti L, Vihko P, Henttu P, Autio-Harmainen H, Vihko R. Evaluation of PAP and PSA gene expression in prostatic hyperplasia and prostatic carcinoma using Northern blot analyses, in situ hybridization and immunohistochemical stainings with monoclonal and bispecific antibodies. Int J Cancer 55:59-597, 1993

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 88    Back | 1  | 2  | 3  | 4  | 5  | Next 20