Indian journal of dermatology venereology leprology




НазваниеIndian journal of dermatology venereology leprology
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Дата конвертации05.09.2012
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1766Incontinentia Pigmenti Associated with Cerebral Palsy and Cerebral Leukomalacia: A Case Report and Literature ReviewSyed N. Shah, M.R.C.P., Sam Gibbs, M.R.C.P., Chris J. Upton, M.R.C.P., Fred E. Pickworth, F.R.C.R., Jennifer J. Garioch, F.R.C.P.; PEDIATRIC DERMATOLOGY Nov.-Dec 2003 Vol. 20 No. 6 491-494 4pp


1762Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28Nadine Gigarel, Nelly Frydman, Philippe Burlet, Violaine Kerbrat, Julie Steffmann, Rene Frydman, Arnold Munnich, Pierre F. Ray; HUMAN GENETICS Dec 12, 2003 Vol. 149 298-305 8pp


1754Nail dystrophy, an unusual presentation of incontinentia pigmentiN. Nicolaou, R.A.C. Graham-Brown; BRITISH JOURNAL OF DERMATOLOGY 2003: 149: 1286-1288 3pp


1751Clinical Study of 40 Cases of Incontinentia PigmentiSmail Hadj-Rabia,MD, David Froidevaux MD, Nathalie Bodak MD, Dominique Hame-Taillac MD, Asma Smahi PhD, Yasmina Touil MD, Sylvie Fritag MD, Yves de Prost MD, Christine Bodemer MD PhD; ARCHIVES OF DERMATOLOGY Sep 2003 Vol 139 1163-1170 8pp


1743Case 1; Diagnosis: Incontinentia PigmentiE.J. Topham, S.L.Simpson Dent, F.J. Child; CLINICAL AND EXPERIMENTIAL DERMATOLOGY 28 103-104 2pp


1742Novel Corneal Featues in Two Males with Incontinentia PigmentiEJ Maye, GN Shuttleworth, KL Greenhalgh, JE Sansom, RHB Brey, S Kenwrick; BRITISH JOURNAL OF OPHTHALMOLOGY 2003 87 554-556 3pp


1739Retinal Tears Occurring at the Border of Vascular and Avascular Retina in Adult patients with Incontinentia PigmentiRobert A. Equi MD, Harshi S. Bains MD PhD, Lee Jampol MD, Morton F. Goldberg MD; RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES 2003 Vol. 23 (4) 574-576 3pp


1736Foveal Hypoplasia and Other Ocular Signs: A Possible Case of Incontinentia PigmentiSimon Chen, Richard Hanson, Kulwinder Hundal; ARCHIVES OF OPHTHALMOLOGY June 2003 Vol 121 921 1p


1735Twenty-nail dystrophy in a girl with incontinentia pigmentiLaura Scardamaglia, Anne Howard, Rodney Sinclair; AUSTRALASIAN JOURNAL OF DERMATOLOGY 2003 44, 71-75 3pp


683Late Recurrence of Inflammatory First-Stage Lesions in Incontinentia PigmentiNathalie Bodak MD, Smail Hadj-Rabia MD, Dominique Hamel-Teillac MD, Yves de Prost MD, Christine Bodemer MD PhD; ARCHIVES OF DERMATOLOGY Feb 2003 Vol 139 201-204 4pp


1732A Fresh Look at Incontinentia PigmentiRudolf Happle; ARCHIVES OF DERMATOLOGY Sept. 2003 Vol. 139 1206-1208 3pp


1729Management of incontinentia pigmenti: a case of monolateral preretinal fibrovascular proliferations adjacent to snail-track degeneration areasF. Bandello, C. Incorvaia, F. Paarmeggiani, S. D’Angelo, C. Costagliola, A. Seabasatiani; EUROPEAN JOURNAL OF OPTHALMOLOGY 2002 Jul-Aug; 12 (4) 339-42 4pp


1707Two Cases of Misinterpretation of Molecular Results in Incontinentia Pigmenti, and a PCR-Based Method to Discriminate NEMO/IKKy gamma Gene DeletionTiziana Bardaro, Geppimo Falco, angela Sparago, Vincenzo Mercadante, Esther Gean Molins, Enrice Tarantino, Matilde Valeria Ursini, Michele D’Urso; HUMAN MUTATION 2003 Jan; Vol. 21 (1) 8–11 4pp.


1717Involvement of NF-kb signalling in skin physiology and diseaseSusanne Bell, Klaus Degitz, Martina Quirling, Nikolaus Jilg, Sharon Page, Korbinian Brand; CELLULAR SIGNALLING 2003 Kam Vol. 15 (1) 1-7 8pp


1722The NF-kB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromesAsma Smahi, Gilles Courtois, Smail Hadj Rabia, Rainer Doffinger, Christine Bodemer, Arnold Munnich, Jean-Laurent Casanova, Alain Israel; HUMAN MOLECULAR GENETICS 2002 Oct 1 (Vol. 11 (20)

2371-2375 5pp


1710Incontinentia Pigmenti Presenting as SeizuresJason N. Hubert, M.D., Jeffrey P. Callen, M.D.; PEDIATRIC DERMATOLOGY 2002 Nov-Dec Vol. 19 (6) 550-2 3pp


1684Incontinentia pigmenti: A review and update on the molecular basis of pathophysiologyAlexander L. Berlin, MD, Amy S. Paller, MD, Lawrence S. Chan, MD; JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 2002 August; Vol. 47 (2Pt1) 169-87 18pp


1662Expression of eotaxim, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmentiS. Jean-Baptists, E.A.O’Toole, M. Chen, J. Guitart, A. Paller, L.S.Chan; CLINICAL AND EXPERIMENTAL IMMUNOLOGY 2002 March Vol 127 (3) 470-8 9pp


1653Osteopetrosis, Lymphedema, Anhidrotic Ectodermal dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His MotherSophie Dupuis-Girod, MD; Nadege Corradini, MD; Smail Hadj-Rabia, MD; Jean-Christophe Fournet, MD; Laurence Faivre, MD; Francoise Le Deist, MD, PhD; Philippe Durand, MD; Rainer Doffinger, PhD; Asma Samhi, PhD; Alain Israel, PhD; Gilles Courtois, MD, PhD; Nicole Brousse, MD; Stephane Blanche, MD; Arnold Munnich, MD, PhD; Alain fischer, MD, PhD; Jean-Laurent Casanova, MD, PhD; Christine Bodemer, MD, PhD; PEDIATRICS 2002 June Vol 109 (6) e97 6pp


1647Incontinentia Pigmenti: The First Single Gene Disorder Due to Disrupted NF-KappaB FunctionSue Kenwrick; ERNST SCHERING RESEARCH FOUNDATION WORKSHOP 2002 (36) 95-107 13pp


1531Hydrops fetalis in three male fetuses of a female with incontinentia pigmentiAndreas Dufke, Brigitte Vollmer, Heidemarie Kendziorra, Susanne Mackensen-Haen, Ulrike Orth, Thorsten Orlikowsky, Andreas Gal; PRENATAL DIAGNOSTICS 2001 Dec. 21 (12) 1019-1021 3pp


1624Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesSwarop Aradhya, Tiziana Bardaro, Petra Galgoczy, Takanori Yamagata, Teresa Esposito, Henry Patlan, Alfredo Ciccodicola, Arnold Munnich, Sue Kenwrick, Matthias Platzer, Michele D’Urso, David L. Nelson; HUMAN MOLECULAR GENETICS 2001, Vol. 10 No. 22 2557-2567 11pp.


1613NEMO/I KKy: linking NF-kB to human diseaseGilles Courtois, Asmae Smahi, Alain Israel; TRENDS IN MOLECULAR MEDICINE 2001 October Vol. 7 (10) 427-30 4pp


1609A recurrent deletion in the ubiquitously expressed NEMO (IKK-y) gene accounts for the vast majority of incontinentia pigmenti mutationsSwaroop Aradhya. Hayley Woffendon. Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asmae Smahi, Christine Shaw, Moise Levy, Arnold Munnich, Michele D’Urso, Richard A. Lewis, Sue Kenwrick, David L. Nelson; HUMAN MOLECULAR GENETICS 2001 Sept. 15 Vol. 10 (19) 2171-2179 9pp


1600Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter SyndromeThe International IP Consortium; AMERICAN JOURNAL OF HUMAN GENETICS 2001 Dec. Vol 69 (6) 1210-1217 8pp


1590A Retrospective Study of Incontinentia Pigmenti Seen at the National Skin Centre, Singapore Over a 10-year periodYC Chan, YC Giam; ANNALS OF THE ACADEMY OF MEDICINE, SINGAPORE 2001; 30 (4) 409-13 5pp


1585Laser Photocoagulation in Preproliferative Retinopathy of Incontinentia PigmentiJackie K. Ngoyed, Kathryn M. Brady-McCreery, MD. FRCOphth; AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS August 2001 5 (4) 258-9 2pp


1583Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD genePetra Galzoczy, Andre Rosenthal, Matthias Platzer; GENE June 13, 2001 271 (1) 93–8 6pp


1569NF-kB signaling and human diseaseSwaroop Aradhya, David L. Nelson; CURRENT OPINION IN GENETICS & DEVELOPMENT 2001, 11 300-306 7pp


1574Clinical features of incontinentia pigmenti with emphasis on dermatoglyphic findingsI. Tanboga, B. Kargul, S. Ergeneli, MY Aydin, M. Atasu; JOURNAL OF CLINICAL PEDIATRIC DENTISTRY 2001 vol 25 (2) 161-5 5pp


343Neonatal Herpes Simplex and Incontinentia PigmentiEric S. Fromer, M.D., Peter J. Lynch, M.D.; PEDIATRIC DERMATOLOGY Jan-Feb 2001 vol. 18 (1) 86 1p


1562Incontinentia pigmenti: a case associated with cardiovascular anomaliesLjubka Miteva, M.D., Ph.D., Assia Nikolova, M.D.; PEDIATRIC DERMATOLOGY Jan-Feb 2001 vol. 18 (1) 54-6 3pp


1555Incontinentia pigmenti: a report of ten casesAsuncion Vicente-Villa, Jose V. Lamas, Antonio M. Pascual, Daniel L. Cuesta, Mercedes P. Marfa, Maria A. Gonzalez-Ensenat; EUROPEAN JOURNAL OF PEDIATRICS January 2001 vol. 160 (1)

64-5 2pp


1553X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signalingRainer Doffinger, Asmae Smahi, Christine Bessia, Frederic Geissmann, Jacqueline Feinberg, Anne Durandy, Christine Bodemer, Sue Kenwrick, Sophie Dupuis-Girod, Stephane Blanche, Philip Wood, Smail Hadj Rabia, Denis J. Headon, Paul A. Overbeek, Francoise Le Deist, Steven M. Holland, Kiran Belani, Dinakantha A. Kumararatne, Alain Fisher, Ralph Shapiro, Mary Ellen Conley, Eric Reimund, Hermann Kalhoff, Mario Abinun, Arnold Munnich, Alain Israel, Gilles Courtois, Jean-Laurent Casanova; NATURE GENETICS March 2001 vol. 27 277 – 285 9pp


1544Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasiaAshish Jain, Chi Adian Ma, Shiyung Liu, Margaret Brown, Jeffrey Cophen, Warren Strober; NATURE IMMUNOLOGY March 2001 vol. 2 (3) 223 – 228 6pp


1538Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-y)Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic, Richard Alan Lewis, Moise Levy, Alain Israel, David L. Nelson; AMERICAN JOURNAL OF HUMAN GENETICS February 8, 2001 7pp

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