Literature DB >> 19768484

Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Mohammad S Ehlayel, Tawfeg Ben-Omran, Venkatraman Bhat, Ahmad S Teebi.   

Abstract

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Year:  2009        PMID： 19768484     DOI： 10.1007/s00415-009-5280-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Platelet-activating factor stimulates gene expression and synthesis of matrix proteins in cultured rat and human mesangial cells: role of TGF-beta.

Authors:  M Ruiz-Ortega; R Largo; C Bustos; D Gómez-Garre; J Egido
Journal:  J Am Soc Nephrol       Date:  1997-08       Impact factor: 10.121

2.  Cytoskeletal coordination during neuronal migration.

Authors:  Bruce T Schaar; Susan K McConnell
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-07       Impact factor: 11.205

3.  Platelet-activating factor receptor stimulation disrupts neuronal migration In vitro.

Authors:  G J Bix; G D Clark
Journal:  J Neurosci       Date:  1998-01-01       Impact factor: 6.167

4.  Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.

Authors:  D M Stafforini; K Satoh; D L Atkinson; L W Tjoelker; C Eberhardt; H Yoshida; T Imaizumi; S Takamatsu; G A Zimmerman; T M McIntyre; P W Gray; S M Prescott
Journal:  J Clin Invest       Date:  1996-06-15       Impact factor: 14.808

5.  Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient.

Authors:  M B Krawinkel; M Ernst; A Feller; H D Flad; H K Mueller-Hermelink; A J Ulmer; J Schaub
Journal:  Am J Med Genet       Date:  1989-08

6.  Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

Authors:  H Plauchu; F Encha-Razavi; M Hermier; J Attia-Sobol; D Vitrey; A Verloes
Journal:  Am J Med Genet       Date:  2001-02-15

7.  Vaccine-induced protection against Leishmania amazonensis is obtained in the absence of IL-12/23p40.

Authors:  Mayra Xiomara Hernández; Thales Augusto Barçante; Luciano Vilela; Wagner Luiz Tafuri; Luís Carlos Crocco Afonso; Leda Quercia Vieira
Journal:  Immunol Lett       Date:  2006-01-13       Impact factor: 3.685

8.  Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Authors:  Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde van Esch; Robert J Harvey; Christian Siebold; Jonathan Flint; Chérif Beldjord; Jamel Chelly
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

9.  Intracellular PAF catabolism by PAF acetylhydrolase counteracts continual PAF synthesis.

Authors:  Jiawei Chen; Lili Yang; Jason M Foulks; Andrew S Weyrich; Gopal K Marathe; Thomas M McIntyre
Journal:  J Lipid Res       Date:  2007-08-10       Impact factor: 5.922

Review 10.  Synaptic lipid signaling: significance of polyunsaturated fatty acids and platelet-activating factor.

Authors:  Nicolas G Bazan
Journal:  J Lipid Res       Date:  2003-09-16       Impact factor: 5.922
  10 in total

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