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         Alport Syndrome Genetics:     more detail
  1. Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
  2. The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
  3. Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

41. CancerGene DL*
Infobiogen * Atlas of genetics and Cytogenetics in Oncology and Haematology GFCO Infobiogen Name, Diffuse leiomyomatosis with alport syndrome. Locus, Xq22.
Search CancerGene CancerGene Homepage Search CancerGene Citations
CancerGene Card Symbol
Aliases DL-ATS Name
Diffuse leiomyomatosis with Alport syndrome
GDB SwissProt LocusLink DL
  • Class DISORDER Diseases Esophageal Neoplasms; Leiomyomatosis; Nephritis, Hereditary Note Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene.

42. CancerGene COL4A3
Infobiogen * Atlas of genetics and Cytogenetics in Oncology and Haematology GFCO type IV collagen gene COL4A3 and mutations in autosomal alport syndrome.
Search CancerGene CancerGene Homepage Search CancerGene Citations
CancerGene Card Symbol
Aliases Name
collagen, type IV, alpha 3 (Goodpasture antigen);
GDB SwissProt LocusLink
  • Note Tumstatin is a 28-kilodalton fragment of type IV collagen that displays both anti-angiogenic and proapoptotic activity, and functions as an endothelial cell-specific inhibitor of protein synthesis( UI:21636766
    • Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Maeshima Y;Sudhakar A;Lively JC;Ueki K;Kharbanda S;Kahn CR;Sonenberg N;Hynes RO;Kalluri R
      Tumstatin, an endothelial cell-specific inhibitor of protein synthesis.
      Science 2002 Jan 4;295(5552):140-3.
      Maeshima Y;Yerramalla UL;Dhanabal M;Holthaus KA;Barbashov S;Kharbanda S;Reimer C;Manfredi M;Dickerson WM;Kalluri R Extracellular matrix-derived peptide binds to alpha(v)beta(3) integrin and inhibits angiogenesis. J Biol Chem 2001 Aug 24;276(34):31959-68. Heidet L;Arrondel C;Forestier L;Cohen-Solal L;Mollet G;Gutierrez B;Stavrou C;Gubler MC;Antignac C Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

43. Genetics - Immanuel College Library Resource Centre
Achromatopsia Cancer genetics Albinism alport syndrome Angelman syndrome FibrosisAtaxia Down syndrome Kidney Diseases Genetic Trail Birth defects and genetics.
Check out the Genetics pathfinder for help with your research General
Genetic Science Learning Center

Genetics/Biotechnology Theme

Biotechnology Australia

Links to the Genetic World
Mutant Fruit Flies: Exploratorium Exhibit
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 Why Is the Human Genome Project Studying It? Genetically modified food Bioethics: Journal of the International Association of Bioethics Genetically Engineered Food Genetically Modified Food: UK and World News ... Genetically engineered food - Safety Problems Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Back to Library Home Page Back to Biology Back to Social issues 2001 Immanuel College Library Resource Centre Last revised 26th September 2002 URL for this page is Jenni van Wageningen

44. Alport's Syndrome - General Practice Notebook
about the genetics of this condition is available in the linked menu item. Prevalenceis about 15000. Pathological renal changes in alport's syndrome include
Alport's syndrome Alport's syndrome is a hereditary disease of basement membranes which is characterised by sensorineural deafness and renal failure. Inheritance can be X-linked dominant, autosomal dominant and, rarely, autosomal recessive. More information about the genetics of this condition is available in the linked menu item. Prevalence is about 1:5000. Pathological renal changes in Alport's syndrome include thickening of the glomerular basement membrane and splitting of the lamina densa.
Click here for more information...

45. Molecular Pathology And Genetics Of Alport Syndrome K Tryggvason Renal Medicine
Molecular Pathology and genetics of alport syndrome K Tryggvason Renalmedicine Pathology Medical genetics Medicine. Molecular Pathology
Molecular Pathology and Genetics of Alport Syndrome K Tryggvason Renal medicine Pathology Medical genetics Medicine
Subject: Renal medicine Pathology Medical genetics Medicine
Title: Molecular Pathology and Genetics of Alport Syndrome
Author: K Tryggvason
Sohei Makino Eosinophils in Al...
T A Pressley ATPases...

S L-. Toledano International C...

D O Freedman Chemical Immunolo...
Bartkowski Oliver DVD Guide d...

46. Membrane Biology Program
of the lab is the molecular genetics of type IV collagen. Mutations in COL4A5 thatencodes the alpha5 chain of type IV collagen cause alport syndrome (AS), a
Investigators Jing Zhou M.D., Ph.D. Jing Zhou M.D., Ph.D. Title: Associate Professor of Medicine Contact Information: Harvard Institutes of Medicine, Room 520, 77 Avenue Louis Pasteur, Boston, MA 02115 Telephone: Fax: Email: Description of Current Research: Recently Published Articles: Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, and Zhou J : Line-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis, Am J Hum Genet 1999 Jan;64(1):62-9. Lu WN, Fan XH, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG and Zhou J . Late onset of renal and hepatic cysts in mice heterozygous for a targeted Pkd1 mutation. Nature Genetics 1999, 21(2):160-161. Chen, XZ, Vassilev, PM, Basora, N, Peng, JP, Nomura, N, Segal, Y, Brown, EB, Reeders, ST, Hediger, MA, and Zhou, J

47. 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
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.

48. 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
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

49. Clinical Genetics
Clinical genetics. 248, 17211722) reported that infants presenting Down's syndromewere the family reported all over the world carrying the alport's syndrome.
Clinical genetics
The Division succeeded to publish a first note on trisomy 21 few years after Lejeune and cols. (C.R. Acad. Sci., 1959, , 1721-1722) reported that infants presenting Down's syndrome were the product of chromosomal abnormalities [36]. This modest report was followed by the description of a malformed mosaic girl carrying an inversion in the X chromosome [8] and the discovery of a family presenting an abnormal chromosome number 16 characterized by a terminal secondary constriction and an extra chromosome segment. Breakage of this segment was observed in three generations of the family [9]. The malformed proband also showed to be the second case of a carrier of a selective endoreduplicated chromosome which appeared as a tri-branched chromosome since Lejeune and cols. (C.R. Acad. Sci., 1968, , 1880) observed a selectively endoreduplicated chromosome number 2. Our interest in the investigation on hereditary conditions was focused in the largest family reported all over the world carrying the Alport's syndrome. About 670 patients studied were afflicted with one or more components of a triad consisting of nephritis, deafness and various eye disorders. Apparently, autosomal association and preferential segregation of the X chromosome were involved in the transmission of the trait [35]. A very unusual case of a mentally retarded woman presenting in her lymphocytes a complex mosaicism of an aberrant chromosome characterized by a telomeric 6;19 translocation chromosome with a tendency to break at the fusion point. This tendency originated fragments lacking a functional centromere with various levels of ploidy, offering the possibility to develop a statistical model for interpreting the complicated chromosome picture. This model was in quantitative agreement with the equilibrium expectations under the assumption that each fragment goes to either pole at random in mitosis and that cells divide at the same rate regardless of ploidy [17].

50. MEDLINEplus Medical Encyclopedia: Topics Beginning With H-Hf
Hereditary nephritis see alport syndrome; Hereditary ovalocytosis; III see RileyDaysyndrome; Hereditary spherocytosis see and disease see genetics; Heritable see
Skip navigation
Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
Medical Encyclopedia Topics beginning with "H-Hf"

51. The Genetics Of Infant Hearing Loss : Sound Ideas Newsletter (Volume 3, No. 3)
syndrome, Main Features (besides deafness). alport, Kidney problems. Recent discoveriesabout the genetics of hearing loss have substantially increased the
Home My State Bulletin Board Newsletter ...
Volume 3, No. 3 (((SOUND IDEAS December 2001 The Genetics of Infant Hearing Loss Printer Friendly Version About three in every 1,000 newborns has a permanent hearing loss. About 50% of these losses are thought to be due to environmental factors, such as bacterial or viral infections such as rubella or CMV or the use of ototoxic drugs such as aminoglycosides. Other times, the cause is genetic and is due to changes in the genes involved in the hearing process. In about 30% of babies with a hearing loss, the loss is part of a syndrome, meaning that these babies have other medical problems. More than 400 syndromes have now been identified which can cause hearing loss (e.g., Waardenburg, Usher, Pendred, Alport, etc.). The other 70% of cases are non-syndromic, which means that the baby does not have any other medical problems. Common Forms of Syndromic Deafness Syndrome Main Features (besides deafness) Alport Kidney problems Branchio-oto-renal Neck cysts and kidney problems Jervell and Lange-Nielsen Heart problems Neurofibromatosis Type 2 Nerve tumors near the ear Pendred Thyroid enlargement Stickler Unusual facial features, eye problems, arthritis

52. CGeMM Seminars
of Physiology University of Utah Medical School, alport syndrome Complexities ofa 24 4 pm, Dr. Joseph Heitman Professor, Department of genetics Duke University

Center for Genetics and Molecular Medicine
Visiting Professor Seminar Series
Funded by the Paul W. and Lucille Caudill Little Lectureship Series Year 2002 Speaker/Institution Seminar Title Location December 19
4 pm Dr. Alexandros Makriyannis,
Professor of Medicinal Chemistry and Molecular and Cell Biology and
Director of Center for Drug Discovery, University of Connecticut
Cannabinergic Targets in Drug Discovery 1302 Research Tower November 14
10 am Dr. Joel G. Pounds
Pacific Northwest National Laboratory Proteomic Characterization of Body Fluids by LC-MS/MS and FTICR-MS
(from a biologist's perspective)" 1302 Research Tower October 25
10 am Dr. Barry G. Hall
Department of Biology University of Rochester Predicting the Evolution of Antibiotic Resistance by in vitro Evolution in the Laboratory Ekstrom Library Auditorium October 18 Noon Dr. Richard Lenski Michigan State University Dynamics of Genomic and Phenotypic Evolution: a 20,000-generation Experiment with E. Coli. Ekstrom Library Auditorium October 17 4 pm Dr. Richard Lenski Michigan State University Some Experiments with Digital Organisms Ekstrom Library Auditorium October 17 4 pm Dr. Stan Wiegand

53. Alport'
alport's syndrome is often associated with progressive hearing loss and occasionallywith other nonrenal defects. genetics Inheritance in the largest and best
Alport's syndrome is progressive hereditary hematuric glomerulonephritis that generally affects males much more severely than females. There is a juvenile form of the disease in which boys develop renal failure at a mean age of 18 years, and an adult type in which renal failure occurs in men around the age of 35. Alport's syndrome is often associated with progressive hearing loss and occasionally with other nonrenal defects.
Inheritance in the largest and best-studied kindreds is X-linked dominant. Nearly 100 different mutations of the COL4A5 gene that codes for the a5 chain of type IV collagen have been described. COL4A5 is located on the X chromosome at Xq22. In occasional families with early development of renal failure in both genders, autosomal recessive Alport's syndrome results from mutations of COL4A3 or COL4A4, both on chromosome 2 at 2q36. However, other families, particularly those with associated thrombopathy, display autosomal dominant inheritance, with as yet obscure mutations.
The fundamental lesion in most variants of Alport's syndrome is a defect in one of the genes coding for the a3, 4, or 5 chains of type IV collagen in the glomerular basement membrane (GBM). If one a chain is defective, normal assembly of a chain heterotrimers cannot occur. This is believed to lead to formation of imperfect collagen, apparent ultrastructurally as thickening and lamellation of the GBM and other basement membranes.

54. CDC Office Of Genetics And Disease Prevention Weekly Update
genetics in the Scientific Literature The image denotes selected articles relatedto between endstage renal failure and mutation type in alport syndrome.
November 2, 2000 Volume 5, No. 18 This weekly update provides information on the impact of human genetic research on disease prevention and public health. Spotlight Announcements Genetics in the News Scientific Literature ... Let’s Go Surfing Many of the news links published in our Weekly Update are temporary, and we cannot guarantee access to stories longer than one or two weeks after the Update is published. We suggest you contact the news source directly for reprints. Spotlight Update on CDC’s Prevention Research Projects Using Genetic Information to Prevent Disease and Improve Health.
The two top-ranked proposals selected for funding in May 1999 were:
  • Gene-Environment Interactions in Cardiovascular Disease Educating Families About Colon Caner Genetic Risk.
A third project was funded with support from the Division of Laboratory Sciences, NCEH, CDC.
  • Diabetes Elimination in Washington: Stratified Population Screen.

55. Olando's Page On Alport's Syndrome
unclassifiable as types (IVI). genetics. There exists a state of geneticcomplexity with alport syndrome (AS). X- linked transmission occurs
Hereditary Nephritis (Alport Syndrome)
Hereditary Nephritis (Alport syndrome)
A heterogeneous relatively uncommon inherited generic disorder characterized by hematuria, impaired renal function, nerve deafness and difficulties with blood platelet function and eye defects (3).
Table of Contents
  • Introduction
  • More on Hereditary Nephritis
  • Genetics
  • Symptoms ...
  • References
  • Picture of hereditary Nephritis also known as Alport's syndrome. Depiction showing the renal tubular cells, which appear foamy due to the accumulation of neutral fats and mucopolysaccharides. Also shows glomeruli with irregular thickening and splitting of basement membranes.
    Alport syndrome denoted as such, occurred in 1927 and is the classic disorder known as Nephritis, characterized by inflammation of the kidney, which often times progresses to renal failure and sensorineural (nerve) hearing loss in both sexes in successive generations (1). Majority of times, the person with the kidney disease is made aware when recurrent microscopic or gross hematuria (blood in the urine) surfaces and can be during early childhood, usually earlier in males than in females. Reaching the stage of complete renal failure occurs gradually and usually occurs in male by the fifth decade (1).
    There is no singular disease that causes Alport syndrome. There exist diverse genetic causes such as x-linked and autosomal dominant and recessive forms of Alport syndrome (3). Also existent are diverse clinical types of Alport syndrome. Clinical examples are juvenile-onset Alport syndrome with deafness, adult-onset Alport syndrome with deafness and adult Alport syndrome without deafness (1).

    56. Tryggvason Karl Molecular Pathology And Genetics Of Alport Syndrome
    Translate this page Tryggvason Karl Molecular Pathology and genetics of alport syndrome.Molecular Pathology and genetics of alport syndrome Tryggvason
    Tryggvason Karl Molecular Pathology and Genetics of Alport Syndrome
    Molecular Pathology and Genetics of Alport Syndrome
    Tryggvason Karl
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    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.
    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

    Casari G. (Milan) Molecular genetics of autosomal dominant medullary cystic FlinterF. (London) - Clinical diagnostic aspect of alport's syndrome; Karet FE
    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.
    • 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)

    59. Wellcome Trust Centre For Human Genetics - Template
    kidney disease (Modpkdr1) in the HanSPRD(cy/+) rat in a region conserved with amouse modifier locus for alport syndrome. Nature genetics 22 226228 (1999).
    about research ... vacancies
    Genetics of Complex Traits in Model Organisms
    Gauguier group
    QTL Mapping of Complex Phenotypes in Rodents
    Relevant publications
    Ramanathan S, Bihoreau MT, Patterson A, Marandi L, Gauguier D, Poussier P. Thymectomy and radiation induced type 1 diabetes in non-lymphopenic BB rats. Diabetes in press Gauguier D, Samani NJ. Approaches to the analysis of complex quantitative phenotypes and marker map construction based on the analysis of rat models of hypertension. In Quantitative Trait Loci, Methods and Protocols. N Camp, A Cox Eds. Humana Press, Totowa NJ, USA. pp225-251 (2002) Bihoreau MT, Megel N, Brown JH, Kränzlin B, Crombez L, Tychinskaya Y, Broxholme J, Kratz S, Bergmann V, Hoffman S, Gauguier D, Gretz N. Characterisation of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome. Hum. Mol. Genet. Ji H, Gauguier D, Ohmura K, Gonzalez A, Duchatelle V, Danoy P, Garchon HJ, Degott C, Lathrop M, Benoist C, Mathis D. Genetic influences on the end-stage effector phase of arthritis. J.Exp.Med.

    60. Alport Syndrome : A Serious Medical Condition. Resources To Obtain And Further U
    Molecular Pathology and genetics of alport syndrome (Contributions to Nephrology,Vol 117) K. Tryggvason(Editor) / Hardcover / Published 1996 Our Price
    Alport syndrome : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public). Special Item Alerts - These deserve your attention.
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