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There are 12824 results for: content related to: MGAT2-CDG (CDG-IIa) and dysmorphism

  1. Congenital disorders of glycosylation

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 190–198, Jaak Jaeken

    Article first published online : 22 DEC 2010, DOI: 10.1111/j.1749-6632.2010.05840.x

  2. Perinatal and early infantile symptoms in congenital disorders of glycosylation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 578–584, Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, Miski Mohamed, Saskia B. Wortmann, Eckhard Korsch, Maciej Adamowicz, Lihadh Al-Gazali, Ron A. Wevers, Adrienne Horvath, Dirk J. Lefeber and Éva Morava

    Article first published online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35702

    Corrected by:

    Erratum: Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578–584

    Vol. 164, Issue 6, 1618, Article first published online: 7 MAY 2014

  3. Congenital disorders of glycosylation and intellectual disability

    Developmental Disabilities Research Reviews

    Volume 17, Issue 3, June 2013, Pages: 211–225, Lynne A. Wolfe and Donna Krasnewich

    Article first published online : 24 JUN 2013, DOI: 10.1002/ddrr.1115

  4. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

    American Journal of Medical Genetics

    Volume 101, Issue 1, 1 June 2001, Pages: 46–49, Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg and Pascale Saugier-Veber

    Article first published online : 27 APR 2001, DOI: 10.1002/ajmg.1298

  5. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2103–2108, Rita Barone, Luisa Sturiale, Vito Sofia, Antonella Ignoto, Agata Fiumara, Giovanni Sorge, Domenico Garozzo and Mario Zappia

    Article first published online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32446

  6. DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2027–2030, Ignacio Arroyo Carrera, Gert Matthijs, Belen Perez and Celia Pérez Cerdá

    Article first published online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35472

  7. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

    Annals of Neurology

    Volume 47, Issue 6, June 2000, Pages: 776–781, S. Grünewald, T. Imbach, K. Huijben, M. E. Rubio-Gozalbo, A. Verrips, J. B. C. De Klerk, H. Stroink, J. F. De Rijk-Van Andel, J. L. K. Van Hove, U. Wendel, G. Matthijs, T. Hennet, J. Jaeken and R. A. Wevers

    Article first published online : 9 MAY 2001, DOI: 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5

  8. A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 2029–2034, F.A. McKenzie, M. Fietz, J. Fletcher, R.L.L. Smith, I.M.R. Wright and J. Jaeken

    Article first published online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31867

  9. Diagnosis of congenital disorders of glycosylation type-I using protein chip technology

    PROTEOMICS

    Volume 6, Issue 7, No. 7 April 2006, Pages: 2295–2304, Kevin Mills, Philippa Mills, Marie Jackson, Viki Worthington, Clare Beesley, Anúska Mann, Peter Clayton, Stephanie Grunewald, Geoffrey Keir, Liz Young, James Langridge, Nasi Mian and Bryan Winchester

    Article first published online : 22 MAR 2006, DOI: 10.1002/pmic.200500682

  10. Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 3, 15 August 2007, Pages: 302–306, Donna Krasnewich, Kevin O'Brien and Susan Sparks

    Article first published online : 18 JUL 2007, DOI: 10.1002/ajmg.c.30143

  11. Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS

    PROTEOMICS

    Volume 8, Issue 18, No. 18 September 2008, Pages: 3822–3832, Luisa Sturiale, Rita Barone, Angelo Palmigiano, Célestin Nsibu Ndosimao, Paz Briones, Maciej Adamowicz, Jaak Jaeken and Domenico Garozzo

    Article first published online : 19 AUG 2008, DOI: 10.1002/pmic.200700496

  12. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 22–26, Liangwu Sun, Erik A. Eklund, Johan L.K. Van Hove, Hudson H. Freeze and Janet A. Thomas

    Article first published online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30831

  13. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

    Human Mutation

    Volume 16, Issue 3, September 2000, Pages: 247–252, E. Schollen, L. Dorland, T.J. de Koning, O.P. Van Diggelen, J.G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze and G. Matthijs

    Article first published online : 6 SEP 2000, DOI: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A

  14. Mass spectrometry in the characterization of human genetic N-glycosylation defects

    Mass Spectrometry Reviews

    Volume 28, Issue 3, May/June 2009, Pages: 517–542, Rita Barone, Luisa Sturiale and Domenico Garozzo

    Article first published online : 9 OCT 2008, DOI: 10.1002/mas.20201

  15. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

    Prenatal Diagnosis

    Volume 18, Issue 7, July 1998, Pages: 693–699, Joanne Charlwood, Peter Clayton, Geoffrey Keir, Nasi Mian, Elisabeth Young and Bryan Winchester

    Article first published online : 4 MAY 1999, DOI: 10.1002/(SICI)1097-0223(199807)18:7<693::AID-PD335>3.0.CO;2-I

  16. The prenatal diagnosis of congenital disorders of glycosylation (CDG)

    Prenatal Diagnosis

    Volume 24, Issue 2, 28 February 2004, Pages: 114–116, Gert Matthijs, Els Schollen and Emile Van Schaftingen

    Article first published online : 28 JAN 2004, DOI: 10.1002/pd.815

  17. CDG-Id in two siblings with partially different phenotypes

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1414–1420, Christian Kranz, Liangwu Sun, Erik A. Eklund, Donna Krasnewich, Janet R. Casey and Hudson H. Freeze

    Article first published online : 5 JUN 2007, DOI: 10.1002/ajmg.a.31796

  18. CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 194–197, Michael Weinstein, Els Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian G. Frank, Markus Aebi, Joe T. R. Clarke, Anne Griffiths, Lorne Seargeant and Nicola Poplawski

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.a.30851

  19. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

    PROTEOMICS

    Volume 7, Issue 11, No. 11 June 2007, Pages: 1800–1813, Valegh Faid, Frédéric Chirat, Nathalie Seta, François Foulquier and Willy Morelle

    Article first published online : 22 MAY 2007, DOI: 10.1002/pmic.200600977

  20. Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

    Prenatal Diagnosis

    Volume 26, Issue 10, October 2006, Pages: 985–988, Matthew Edwards, Fiona McKenzie, Stephen O'Callaghan, David Somerset, Phillip Woodford, Jillian Spilsbury, Michael Fietz and Janice Fletcher

    Article first published online : 17 AUG 2006, DOI: 10.1002/pd.1543