81. Dorsal Retinal Pigment Epithelium Differentiates As Neural Retina In The Microph microphthalmia, a bHLHzip transcription factor associated with the onset and To determine a role for microphthalmia (mi) during eye development, http://www.iovs.org/cgi/content/abstract/41/3/903

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82. Microphthalmia And Anophthalmia microphthalmia and anophthalmia can be caused by sporadic or genetic mutations . There is no known cure for anophthalmia or microphthalmia. http://www.rwjhamilton.org/Atoz/ency/microphthalmia_and_anophthalmia.asp

Encyclopedia Index M Home Encyclopedia Encyclopedia Index M Microphthalmia and anophthalmia Definition Anophthalmia is the complete absence of an eye. Microphthalmia is an eye that has an abnormal smallness. Description Anophthalmia is caused by a defect in embryonic development. The total absence of an eye is extremely rare and often a clinical sign associated with a broad range of genetic disorders or, more commonly, a sporadic mutation. Sporadic transmission occurs in the affected individual due to a genetic abnormality. It is not passed on from the parents, but usually due to a combination of environmental and genetic influences. More commonly anophthalmia clinically presents as a small cyst. The defect, which causes anophthalmia, is an absence of the optic vesicle, a structure important for eye development. The genetic abnormality usually occurs during weeks one to three after conception. It is estimated that the incidence of microphthalmia occurs 0.22 times per 1,000 live births. Anophthalmia can occur during adult life but not associated with a genetic cause. Microphthalmia refers to an abnormally small eye. This clinical sign is often associated with autosomal dominant or recessively transmitted genetic disorders. Most disorders dominantly inherited with microphthalmia are associated with some visual capabilities in infancy and early childhood. Microphthalmia may be isolated (the only presenting sign) or associated with a range of ocular or systemic abnormalities. Isolated cases of microphthalmia may be sporadic or inherited. There is a variable degree of

83. Compiling A National Register Of Babies Born With Anophthalmia/microphthalmia In Thirty four per cent of affected babies had mild microphthalmia. Of those withsevere anophthalmia/microphthalmia, 51% were bilateral, http://fn.bmjjournals.com/cgi/content/abstract/79/3/F168

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84. Microcephaly, Microphthalmia, Congenital Cataract, Optic Atrophy, Short Stature, Nearly 150 conditions that feature microphthalmia have been delineated.1 Few ofthese Both families have in common microcephaly, microphthalmia, http://jmg.bmjjournals.com/cgi/content/full/36/8/637

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85. A Case Of Lenz Microphthalmia Syndrome -- Ozkinay Et Al. 34 (7): 604 -- Journal Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinalfeatures of the syndrome are microphthalmia or anophthalmos, http://jmg.bmjjournals.com/cgi/content/abstract/34/7/604

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86. Microphthalmia Transcription Factor microphthalmia transcription factor. From, Nader, Alexander . I m looking foran antibody for microphthalmia transcription factor (clone D5?). http://www.histosearch.com/histonet/Aug01A/Microphthalmiatranscripti.html

Microphthalmia transcription factor From: "Nader, Alexander" I'm looking for an antibody for Microphthalmia transcription factor (clone D5?). Is it commercially available? Alexander Nader Path. Institut Hanuschkrankenhaus Vienna, Austria Previous Message Next Message

87. Re: Microphthalmia Transcription Factor Re microphthalmia transcription factor transcription factor I m lookingfor an antibody for microphthalmia transcription factor (clone D5?). http://www.histosearch.com/histonet/Aug01A/Re.Microphthalmiatranscri.html

Re: Microphthalmia transcription factor From: Kappeler Andreas Hi Alex A brief search in a database revealed that Oncogene carries two mAbs against MTF, clone C5 (CatNr OP126L) and clone D5 (CatNr OP127). No experiences with the reagents in our lab, but according to Oncogene they should both work on FFPE tissue. Best regards, Andi Kappeler Institute of Pathology, University of Bern, Switzerland > Microphthalmia transcription factor > I'm looking for an antibody for Microphthalmia transcription factor (clone > D5?). > > Is it commercially available? > > Alexander Nader > Path. Institut Hanuschkrankenhaus > Vienna, Austria > Previous Message Next Message

88. Microphthalmia-associated Transcription Factor Interacts With LEF-1, A Mediator Germ CellSpecific Expression of microphthalmia-Associated Transcription FactormRNA in Mouse Testis J. Biochem. (Tokyo), July 1, 2003; 134(1) 143 - 150. http://embojournal.npgjournals.com/cgi/content/abstract/21/11/2703

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Yasumoto, K.-i. Articles by Shibahara, S. The EMBO Journal , Vol. 21, No. 11 pp. 2703-2714, 2002 European Molecular Biology Organization Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling Ken-ichi Yasumoto Kazuhisa Takeda Hideo Saito Ken-ichi Watanabe Kazuhiro Takahashi and Shigeki Shibahara Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Aoba-ku, Sendai, Miyagi 980-8575, Japan Corresponding author e-mail: Wnt signals regulate differentiation of neural crest cells through the lymphoid-enhancing factor 1 (LEF-1)/T-cell factors (TCFs) and leucine-zipper region of microphthalmia-associated transcription factor (MITF) and LEF-1. MITF is essential for melanocyte differentiation

89. Microphthalmia-associated Transcription Factor Interacts With LEF-1, A Mediator (1998) Identification of a novel isoform of microphthalmiaassociated Germ Cell-Specific Expression of microphthalmia-Associated Transcription Factor http://embojournal.npgjournals.com/cgi/content/full/21/11/2703

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Yasumoto, K.-i. Articles by Shibahara, S. The EMBO Journal , Vol. 21, No. 11 pp. 2703-2714, 2002 European Molecular Biology Organization Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling Ken-ichi Yasumoto Kazuhisa Takeda Hideo Saito Ken-ichi Watanabe Kazuhiro Takahashi and Shigeki Shibahara Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Aoba-ku, Sendai, Miyagi 980-8575, Japan Corresponding author e-mail: Received March 19, 2001; revised February 18, 2002; accepted March 27, 2002 Abstract Top Abstract Introduction Results Discussion Materials and methods Acknowledgements References Wnt signals regulate differentiation of neural crest cells through the lymphoid-enhancing factor 1 (LEF-1)/T-cell factors (TCFs) and leucine-zipper region of microphthalmia-associated transcription factor (MITF) and LEF-1. MITF is essential for melanocyte differentiation

90. Hypoxia-inducible Factor 1{alpha} Is A New Target Of Microphthalmia-associated T of microphthalmiaassociated transcription factor (MITF) in melanoma cells melanocortin-1 receptor; MITF, microphthalmia-associated transcription http://www.jcb.org/cgi/content/abstract/170/1/49

Home Help Feedback Subscriptions ... Table of Contents Published online June 27, 2005. doi:10.1083/jcb.200501067 The Rockefeller University Press JCB, Volume 170, Number 1, 49-59 This Article Full Text PDF (Full Text) Alert me when this article is cited ... Citation Map Services Alert me to new content in the JCB Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Ballotti, R. Related Collections Related Article Article Hypoxia-inducible factor 1 is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells Edurne Berra Mehdi Khaled Karine Bille Barbara Marchetti Giorgos Fitsialos Corine Bertolotto Thierry Virolle Pascal Barbry Gilles Ponzio , and Robert Ballotti INSERM U634, Faculty of Medicine, 06107 Nice cedex 2, France CNRS UMR 6543, Centre Antoine Lacassagne, 06189 Nice cedex 2, France CNRS/UNSA UMR 6097, IPMC, 06560 Sophia Antipolis, France In melanocytes and melanoma cells -melanocyte stimulating hormone -MSH), via the cAMP pathway, elicits a large array of biological

91. Microphthalmia Gene Product As A Signal Transducer In CAMP-Induced Differentiati microphthalmia a transcription factor involved in melanocyte survival. Further,microphthalmia stimulates the transcriptional activity of the tyrosinase http://www.jcb.org/cgi/content/abstract/142/3/827

Home Help Feedback Subscriptions ... Table of Contents This Article Full Text PDF (Full Text) Alert me when this article is cited ... Citation Map Services Alert me to new content in the JCB Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Bertolotto, C. Articles by Ballotti, R. J. Cell Biol., Volume 142, Number 3, August 10, 1998 827-835 Microphthalmia Gene Product as a Signal Transducer in cAMP-Induced Differentiation of Melanocytes Corine Bertolotto, Patricia Abbe, Timothy J. Hemesath, Karine Bille, David E. Fisher, Jean-Paul Ortonne, and Robert Ballotti Division of Pediatric Hematology/Oncology, Children's Hospital and Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachussets 02115; Melanocyte differentiation characterized by an increased melanogenesis, is stimulated by -melanocyte-stimulating hormone through activation of the cAMP pathway. During this process, the expression of tyrosinase, the enzyme that controls melanin synthesis is upregulated. We previously showed that cAMP regulates transcription

92. Arch Pediatr Adolesc Med -- Abstract: Microcephaly, Microphthalmia, Falciform Re Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.AL Jarmas, DD Weaver, FD Ellis and A. Davis http://archpedi.ama-assn.org/cgi/content/abstract/135/10/930

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 135 No. 10, October 1981 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Jarmas AL Davis A Contact me when this article is cited Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome A. L. Jarmas, D. D. Weaver, F. D. Ellis and A. Davis We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause

93. Microphthalmia-dermal Aplasia-sclerocornea (MIDAS) Syndrome Synonym, microphthalmia with linear skin defects (MLS) Eyes microphthalmia,corneal opacity, sclerocornea, orbital cysts, upslanted palpebral fissures, http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome453.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome microphthalmia-dermal aplasia-sclerocornea (MIDAS) syndrome Synonym microphthalmia with linear skin defects (MLS) Summary Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, mental retardation, and nail dystrophy. Some features of the phenotype of this syndrome overlap those of Aicardi and Goltz syndromes. Major Features Head and neck: Midfacial hypoplasia and linear erythematous skin lesions. Ears: Narrow and deformed ears with antihelical changes and preauricular pits. Eyes: Microphthalmia, corneal opacity, sclerocornea, orbital cysts, upslanted palpebral fissures, and chorioretinal abnormalities. Nose: Wide nasal bridge. Abdomen: Diaphragmatic hernia. Skin: Linear skin dysplasia of the neck, head, and chin. Skin appendages: Nail dystrophy.

94. Arrhinia-choanal Atresia-microphthalmia Syndrome Major Features, Eyes microphthalmia or anophthalmia, hypertelorism, and absenceof tear ducts. Nose Arrhinia and choanal atresia. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome037.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome arrhinia-choanal atresia-microphthalmia syndrome Summary A syndrome of arrhinia, choanal atresia, highly arched or cleft palate, microphthalmia, hypertelorism, and other defects. Mental retardation was observed in 2 out of 4 reported cases. Major Features Eyes: Microphthalmia or anophthalmia, hypertelorism, and absence of tear ducts. Nose: Arrhinia and choanal atresia. Mouth and oral structures: Cleft or highly arched palate. Thorax: Absent 12th ribs. Cardiovascular system: Patent ductus arteriosus. Growth and development: Mental retardation. Behavior and performance: Anosmia. Heredity: The syndrome is familial with probable autosomal dominant inheritance with reduced penetrance. View the Full Record U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 27 October 1999

95. MGI - Phenotype Browser MP term, microphthalmia. Synonym, small eyes. MP id, MP0001297 isamicrophthalmia MP0001297 (93 genotypes, 93 annotations) http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001297

96. Genomic, Transcriptional And Mutational Analysis Of The Mouse Microphthalmia Loc Mouse microphthalmia transcription factor (Mitf) mutations affect the In addition, we determined the molecular basis for six microphthalmia mutations. http://www.genetics.org/cgi/content/abstract/155/1/291

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Hallsson, J. H. Genomic, Transcriptional and Mutational Analysis of the Mouse microphthalmia Locus a , Jack Favor b , Colin Hodgkinson c , Tom Glaser c , M. Lynn Lamoreux d a , Gunnar J. Gunnarsson a , Hope O. Sweet e , Neal G. Copeland f , Nancy A. Jenkins f a a b GSF-Institute of Mammalian Genetics, D-85764 Neuherberg, Germany, c Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan 48109, d e The Jackson Laboratory, Bar Harbor, Maine 04609 f Mouse Cancer Genetics Program, National Cancer Institute, Frederick Cancer Research and Development Center, Frederick, Maryland 21702 (E-mail) Communicating editor: C. K OZAK Mouse microphthalmia transcription factor Mitf ) mutations affect the development of four cell types: melanocytes, mast cells

97. Microphthalmia Transcription Factor Induces Both Retinal Pigmented Epithelium An microphthalmia Transcription Factor Induces Both Retinal Pigmented Epitheliumand Neural Crest Melanocytes from Neuroretina Cells* http://www.jbc.org/cgi/content/abstract/279/40/41911?ct

98. Direct Regulation Of The Microphthalmia Promoter By Sox10 Links Waardenburg-Shah Melanocytespecific microphthalmia-associated Transcription Factor IsoformActivates Its Own Gene Promoter through Physical Interaction with http://www.jbc.org/cgi/content/abstract/275/48/37978

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published In Press as doi:10.1074/jbc.M003816200 on September 5, 2000 J. Biol. Chem., Vol. 275, Issue 48, 37978-37983, December 1, 2000 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email 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 Lee, M. Articles by Goding, C. R. Direct Regulation of the Microphthalmia Promoter by Sox10 Links Waardenburg-Shah Syndrome (WS4)-associated Hypopigmentation and Deafness to WS2 Melanie Lee, Jane Goodall, Carole Verastegui Robert Ballotti , and Colin R. Goding From the Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom and The transcription factor Sox10 is genetically linked with Waardenburg syndrome 4 (WS4) in humans and the Dominant megacolon Dom ) mouse model for this disease. The pigmentary defects observed

99. The JI -- Sign In Page microphthalmia transcription factor (MITF) and STAT3 are two 3 Abbreviationsused in this paper MITF, microphthalmia transcription factor; mMCP, http://www.jimmunol.org/cgi/content/full/175/3/1450

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to The Journal of Immunology Online. Full Text Immunological Trigger of Mast Cells by Monomeric IgE: Effect on Microphthalmia Transcription... Sonnenblick et al. J Immunol. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services 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 Sonnenblick, A. Articles by Razin, E. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$10.00 Pay for Admission - You may access all content in The Journal of Immunology Online (from the computer you are currently using) for 14 days for US$40.00.

100. Age-resolving Osteopetrosis: A Rat Model Implicating Microphthalmia And The Rela Role Played by microphthalmia Transcription Factor Phosphorylation and Its Zip The microphthalmia transcription factor and the related helixloop-helix http://www.jem.org/cgi/content/short/187/5/775

Home Help Feedback Subscriptions ... Table of Contents This Article Full Text PDF (Full Text) Alert me when this article is cited ... Citation Map Services Alert me to new content in the JEM Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Weilbaecher, K. N. Articles by Fisher, D. E. J. Exp. Med., Volume 187, Number 5, March 2, 1998 775-785 Age-resolving Osteopetrosis: A Rat Model Implicating Microphthalmia and the Related Transcription Factor TFE3 By Katherine N. Weilbaecher, Christine L. Hershey, Clifford M. Takemoto, Martin A. Horstmann, Timothy J. Hemesath, Armen H. Tashjian Jr., and David E. Fisher From the Dana Farber Cancer Institute, Department of Pediatric Oncology, Harvard Medical School, Boston, Massachusetts 02115; and the Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School and Department of Cancer Cell Biology, Harvard School of Public Health, Boston, Massachusetts 02115 Microphthalmia (Mi) is a basic helix-loop-helix-leucine zipper (b-HLH-ZIP) transcription factor implicated in pigmentation

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