61. HighWire -- Browse Journals - Cockayne Syndrome Browse Journals publishing on cockayne syndrome, (return to Topic List page) Journals focusing on cockayne syndrome (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/618131/620271/620375/620378/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Cockayne Syndrome: (return to Topic List page) Cockayne Syndrome Sort by: Alphabet Frequency of articles in Cockayne Syndrome Focus of journal on Cockayne Syndrome What's this? Journals focusing on Cockayne Syndrome (in order by highest focus) The EMBO Journal info free ISSUES Archives of Neurology ... Dwarfism Cockayne Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

62. Genetics And Molecular Biology - cockayne syndrome REPORT OF A BRAZILIAN FAMILY WITH CONFIRMATION OF IMPAIRED RNA In its classical form (cockayne syndrome type I or type A) it is http://www.scielo.br/scielo.php?pid=S1415-47572000000200005&script=sci_arttext&t

63. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor NORD cockayne syndrome Offers the synonyms, a general discussion and resources. cockayne syndrome - Genes and disease provides a short description of http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Neurodegenerative Diseases : Cockayne Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Cockayne Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

64. The Cockayne Syndrome B Protein, Involved In Transcription-coupled DNA Repair, R Keywords cockayne syndrome, CSB, nucleotide excision repair, RNApolymerase II, transcriptioncoupled repair. Send to a friend, Email link to a friend http://www.nature.com/emboj/journal/v16/n19/abs/7590569a.html

@import "/emboj/style_article.css"; SEARCH: Advanced search MY ACCOUNT E-ALERTS SUBSCRIBE REGISTER ... Contact Editorial office Customer services Subscribe Order sample copy Contact NPG Advertising ... www.embo.org The EMBO Journal The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex Alain J. van Gool , Elisabetta Citterio , Suzanne Rademakers , Roselinde van Os , Wim Vermeulen , Angelos Constantinou , Jean-Marc Egly , Dirk Bootsma and Jan H.J. Hoeijmakers MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands Present address: ICRF Clare Hall Laboratories, South Mimms, Herts, EN6 3LD, UK Department of Genetics and Microbiology, University Medical Center, 9 Avenue de Champel, 1211 Geneva 4, Switzerland A.J.van Gool and E.Citterio contributed equally to this work To whom correspondence should be addressed Jan H.J. Hoeijmakers, HOEIJMAKERS@GEN.FGG.EUR.NL Received 9 May 1997; Revised 9 July 1997. Abstract Transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) defective in Cockayne syndrome A and B (CSA and CSB), is responsible for the preferential removal of DNA lesions from the transcribed strand of active genes, permitting rapid resumption of blocked transcription. Here we demonstrate by microinjection of antibodies against CSB and CSA gene products into living primary fibroblasts, that both proteins are required for TCR and for recovery of RNA synthesis after UV damage

65. Role Of The ATPase Domain Of The Cockayne Syndrome Group B Protein In UV Induced Oncogene is one of the world’s leading cancer journals. It is published weekly and covers all aspects of the structure and function of Oncogenes. http://www.nature.com/onc/journal/v19/n4/abs/1203372a.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics 27 January 2000, Volume 19, Number 4, Pages 477-489 Table of contents Abstract Next Full text PDF Original Paper Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis Adayabalam S Balajee a , Luca Proietti DeSantis, Robert M Brosh Jr, Rebecca Selzer and Vilhelm A Bohr Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Drive, Baltimore, Maryland, MD 21224, USA Correspondence to: Vilhelm A Bohr, Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Drive, Baltimore, Maryland, MD 21224, USA a Current address: Center for Radiological Research, Dept. Radiation Oncology, 630 West, Columbia University, New York, NY 10032, USA Abstract Cockayne syndrome (CS) is a human autosomal recessive disorder characterized by many neurological and developmental abnormalities. CS cells are defective in the transcription coupled repair (TCR) pathway that removes DNA damage from the transcribed strand of active genes. The individuals suffering from CS do not generally develop cancer but show increased neurodegeneration. Two genetic complementation groups (CS-A and CS-B) have been identified. The lack of cancer formation in CS may be due to selective elimination of cells containing DNA damage by a suicidal pathway. In this study, we have evaluated the role of the

66. WebMD With AOL Health - Cockayne Syndrome cockayne syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends http://aolsvc.health.webmd.aol.com/hw/health_guide_atoz/nord176.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Thursday, September 08, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library Choose a Topic All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... For a Complete Report Cockayne Syndrome Important It is possible that the main title of the report Cockayne Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) General Discussion Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child’s development and is generally a milder form of the disease. A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders.

67. Defective Solar Protection In Xeroderma Pigmentosum And Cockayne Syndrome Patien Xeroderma pigmentosum (XP),1 cockayne syndrome (CS)2,3 and xeroderma pigmentosumcockayne syndrome (XP-CS)4,5 are rare disorders with autosomal recessive http://www.eurekah.com/abstract.php?chapid=2139&bookid=159&catid=21

68. Cockayne Syndrome Synonyms, Eastern Carolina cockayne syndrome Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/112499.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Cockayne Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Cockayne Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) General Discussion Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 44 870 7700 325 Fax: 44 870 7700 327 Email: info@climb.org.uk Internet: http://www.CLIMB.org.uk Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

69. Aging cockayne syndrome (CS). Caused by mutations in genes needed for DNA repair, especially transcriptioncoupled DNA repair. While these people show only some http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/A/Aging.html

Index to this page What is Aging? Do all Creatures Age? Aging in Invertebrates Aging in Vertebrates ... The effects of Calorie Restriction (CR) The Free Radical Theory of Aging 3. The Accumulation of Senescent Cells? 4. The Accumulation of Genetic Errors? Clues from the Transcriptome of Aging Brains ... Aging in Plants Aging What is Aging? Loss of structure and function in aging. Figures represent percentage of a given function remaining in an average 75-year-old man compared with that found in an average 30-year-old man, the latter value taken as 100%. Weight of brain Blood supply to brain Output of heart at rest Number of glomeruli in kidney Glomerular filtration rate Speed of return to normal pH of blood after displacement Number of taste buds Vital capacity Strength of hand grip Maximum O uptake during exercise Number of axons in spinal nerve Velocity of nerve impulse Body weight Aging is the progressive loss of physiological functions that increases the probability of death. This table gives some data. The decline in function certainly occurs within cells. This is especially true of cells that are no longer in the cell cycle: neurons in the brain;

70. Cockayne Syndrome - Talk Medical Humanfriendly medical definition of cockayne syndrome. http://www.talkmedical.com/medical-dictionary/3132/Cockayne-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Cockayne Syndrome Cockayne syndrome: A genetic disorder that involves progressive multisystem degeneration and is classified as a segmental premature-aging syndrome. Cockayne syndrome is characterized by dwarfism, prematurely aging, visual problems and deafness, sensitivity to sunlight, and mental retardation. Cockayne syndrome is a transcription- and DNA repair deficiency syndrome. The syndrome arises from mutations in the CSA and CSB genes. The CSA gene has been mapped to chromosome 5. The CSB protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome DNA repair, as well as in general transcription. Children with Cockayne syndrome usually have poor growth before and after birth and are mentally retarded. Eye problems include retinal degeneration, optic nerve atrophy, sunken eyes, poor lid closure and drying of the cornea. The ears tend to be malformed with hearing loss. The head is abnormally small (microcephaly). The arms and legs are disproportionately long with large hands and feet and flexion contractures of joints. The children burn after even minimal sun exposure. They suffer steady deterioration of their neurons. Their abilities to hear, to see, even to feel or smell are progressively lost. Death is often from early atherosclerosis. The disease is inherited as an autosomal recessive trait. The gene, called CSA, is on chromosome 5. Parents with one CSA gene are normal. Each of their children stands a 1 in 4 (25%) risk of receiving two CSA genes, one from each parent, and of having Cockayne syndrome.

71. The Cockayne Syndrome: An Evaluation Of Hypertension And Studies Of Renal Pathol The cockayne syndrome an evaluation of hypertension and studies of renal pathology. MC Higginbottom, WR Griswold, KL Jones, MD Vasquez, SA Mendoza and CB http://pediatrics.aappublications.org/cgi/content/abstract/64/6/929

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Higginbottom, M. C. Articles by Wilson, C. B. The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology MC Higginbottom, WR Griswold, KL Jones, MD Vasquez, SA Mendoza and CB Wilson Three children with renal disease, hypertension, and the Cockayne syndrome were evaluated. All patients had severe hypertension; peripheral vein renin was elevated in two patients. Renal biopsy specimens from two patients were studied by light microscopy, electron microscopy, and immunofluoresence. Immunohistologic studies demonstrated deposits of immunoglobulin and complement in the vessels and glomeruli of the first patient; deposits of

72. Cockayne Syndrome: A Cellular Sensitivity To Ultraviolet Light -- Schmickel Et A RNA Polymerase II Elongation Complexes Containing the cockayne syndrome Group B Protein Interact with a Molecular Complex Containing the Transcription http://pediatrics.aappublications.org/cgi/content/abstract/60/2/135

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Schmickel, R. D. Articles by Chang, C. C. Cockayne syndrome: a cellular sensitivity to ultraviolet light RD Schmickel, EH Chu, JE Trosko and CC Chang Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.

73. Share And Care Cockayne Syndrome Network, Inc.: National Institute Of Neurologic The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg756.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations Professional Societies Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Find People Voluntary Organizations Organization Contact Information Share and Care Cockayne Syndrome Network, Inc. P.O. Box 570618 Dallas, TX 75357 Tel: 214-660-8353 or 214-728-2679 866-COCKAYNE (262-5296) Fax: 972-613-4590 EMail: j93082@aol.com http://www.cockayne-syndrome.org Description: Non-profit organization that supports parents, publishes a newsletter and pamphlet, and sponsors an annual retreat. Organizations such as this one may focus on information, research, fundraising, advocacy and awareness programs, rehabilitation, or patient support. They are not part of the Federal Government and they may not be tax-exempt. National Institute of Neurological Disorders and Stroke Home About NINDS Disorders Funding ... Accessibility

74. Science -- Sign In Primary fibroblasts of cockayne syndrome patients are defective in Differential requirement for the ATPase domain of the cockayne syndrome group B gene http://www.sciencemag.org/cgi/content/short/275/5302/990

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75. Cockayne Syndrome (CS) 1 Syndrome, cockayne syndrome (CS) 1. Synonyms, NeillDingwall syndrome. progeria-like syndrome. progeroid syndrome. Summary, A syndrome of hypersensitivity http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome234.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Cockayne syndrome (CS) 1 Synonyms Neill-Dingwall syndrome progeria-like syndrome progeroid syndrome Summary A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as Type 1 or A (onset at age 2 years or later), Type 2 or B (named later COMFAK, q.v.), and Type 3 or C (considered as a part of xeroderma pigmentosum complementation group B). Major Features Head and neck: Microcephaly with bird-like facies, prominence of the facial bones, and lack of facial subcutaneous fat. Increased thickening of the skull base and calvaria, especially in the frontal and parietooccipital regions. Eyes: Enophthalmos and retinal pigmentation, the constant features, are frequently associated with optic atrophy, narrowing of the arterioles, cataracts (usually appearing during adolescence), a poor response to mydriasis and, less frequently, corneal dystrophy, nystagmus, and photophobia. Histopathologic findings include loss of nerve fibers and myelin sheath and atrophy of the retinal nerve and ganglion cells. Mouth and oral structures: Dental caries, absence of permanent teeth, atrophy of the alveolar process, condylar dysplasia, and short conical roots occur in some patients.

76. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cockayne+S Epidermolysis Bullosa HomeopathyAlternative Names Epidermolysis Bullosa Letalis, Epidermolysis Bullosa Simplex, Webercockayne syndrome. Homeopathic remedies are prescribed by symptoms http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cockayne Syndrome

77. Health/Conditions And Diseases/Neurological Disorders/Neurodegenerative Diseases cockayne syndrome Genes and disease provides a short description of this inherited NORD cockayne syndrome Offers the synonyms, a general discussion and http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Neurological_

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78. MeSH-D Terms Associated To MeSH-C Term Cockayne Syndrome MeSHD terms associated to MeSH-C term cockayne syndrome, G2D Home the strength of the association of the corresponding term to cockayne syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Cockayne_Syndrome:unknown

79. Xeroderma Pigmentosum--Cockayne Syndrome Complex: A Further Case -- Hamel Et Al. From The Cover Complete absence of cockayne syndrome group B gene product gives rise to UVsensitive syndrome but not cockayne syndrome http://jmg.bmjjournals.com/cgi/content/abstract/33/7/607

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Hamel, B. C. Articles by Kleijer, W. J. Journal of Medical Genetics, 1996, Vol 33, 607-610 ARTICLES Xeroderma pigmentosumCockayne syndrome complex: a further case BC Hamel, A Raams, AR Schuitema-Dijkstra, P Simons, I van der Burgt, NG Jaspers and WJ Kleijer Department of Human Genetics, University Hospital Nijmegen, The Netherlands. We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth

80. Share And Care Cockayne Syndrome Network, Inc.: National Institute Of Neurologic The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous http://accessible.ninds.nih.gov/find_people/voluntary_orgs/volorg756.htm

Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home Find People Voluntary Organizations Find People section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations - you are in this section Professional Societies NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Organization Contact Information Share and Care Cockayne Syndrome Network, Inc. P.O. Box 570618 Dallas, TX 75357 Tel: 214-660-8353 or 214-728-2679 866-COCKAYNE (262-5296) Fax: 972-613-4590 EMail: j93082@aol.com http://www.cockayne-syndrome.org Description: Non-profit organization that supports parents, publishes a newsletter and pamphlet, and sponsors an annual retreat.

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