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There are 16348 results for: content related to: Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

  1. Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 [RIGHTWARDS ARROW] q12.1 and 19p12 [RIGHTWARDS ARROW] q12 regions in a child featuring multiple congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3116–3121, Xiang Fei, Manlong Qi, Yanyan Zhao and Jesse Li-Ling

    Article first published online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34346

  2. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2308–2310, Fabio Rueda Faucz, Josiane Souza, Aguinaldo Bonalumi Filho, Vanessa Santos Sotomaior, Egon Frantz, Sergio Antoniuk, Jill A. Rosenfeld and Salmo Raskin

    Article first published online : 3 AUG 2011, DOI: 10.1002/ajmg.a.34196

  3. Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2496–2500, Marwa I. Shehab, Inas Mazen and Susan Bint

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34176

  4. A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1425–1431, Nicoletta Villa, Angela Bentivegna, Adam Ertel, Serena Redaelli, Carla Colombo, Renata Nacinovich, Fiorenza Broggi, Sara Lissoni, Silvia Bungaro, Sankar Addya, Paolo Fortina and Leda Dalprà

    Article first published online : 13 MAY 2011, DOI: 10.1002/ajmg.a.34010

  5. Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1568–1573, Bing Huang, Phyllis Pearle, Katherine A. Rauen and Philip D. Cotter

    Article first published online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35385

  6. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1—evidence for high variability in mosaicism in different tissues of sSMC carriers

    Prenatal Diagnosis

    Volume 27, Issue 8, August 2007, Pages: 783–785, Ina Fickelscher, Heike Starke, Eberhard Schulze, Günther Ernst, Nadezda Kosyakova, Hasmik Mkrtchyan, Kay MacDermont, Neil Sebire and Thomas Liehr

    Article first published online : 4 JUN 2007, DOI: 10.1002/pd.1776

  7. Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis

    Genetic Disorders and the Fetus, Sixth Edition

    Aubrey Milunsky, Jeff M. Milunsky, Pages: 194–272, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444314342.ch6

  8. Molecular Cytogenetics and Prenatal Diagnosis

    Genetic Disorders and the Fetus, Sixth Edition

    Aubrey Milunsky, Jeff M. Milunsky, Pages: 313–348, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444314342.ch8

  9. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 2, February 2012, Pages: 400–405, Nadia Boutry-Kryza, Audrey Labalme, Marianne Till, Caroline Schluth-Bolard, Jacques Langue, Catherine Turleau, Patrick Edery and Damien Sanlaville

    Article first published online : 7 DEC 2011, DOI: 10.1002/ajmg.a.34222

  10. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 894–900, Véronique Haddad, Azzedine Aboura, Lucie Tosca, Narjes Guediche, Anne-Elisabeth Mas, Aurore Coulomb L'Herminé, Luc Druart, Olivier Picone, Sophie Brisset and Gérard Tachdjian

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35258

  11. Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis

    Prenatal Diagnosis

    Volume 33, Issue 8, August 2013, Pages: 782–796, Anna Capalbo, Lorenzo Sinibaldi, Laura Bernardini, Iolanda Spasari, Brunella Mancuso, Eugenio Maggi and Antonio Novelli

    Article first published online : 27 MAY 2013, DOI: 10.1002/pd.4105

  12. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  13. Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2200–2203, Daniela Giardino, Emanuele Valtorta, Gabriella De Canal, Cecilia Corti, Chiara Valtorta, Palma Finelli, Concetta Vardè, Maria Iandolo, Cristiana Marchese and Lidia Larizza

    Article first published online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31883

  14. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20

    Prenatal Diagnosis

    Volume 29, Issue 10, October 2009, Pages: 1002–1005, P. Callier, L. Faivre, S. Pigeonnat, B. Quilichini, N. Marle, C. Thauvin-Robinet, A. L. Mosca, A. Masurel-Paulet, T. Rousseau, P. Sagot, N. Laurent and F. Mugneret

    Article first published online : 10 AUG 2009, DOI: 10.1002/pd.2333

  15. De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

    Prenatal Diagnosis

    Volume 34, Issue 5, May 2014, Pages: 460–468, Francesca Malvestiti, Simona De Toffol, Beatrice Grimi, Sara Chinetti, Livia Marcato, Cristina Agrati, Anna Maria Di Meco, Giuditta Frascoli, Anna Trotta, Barbara Malvestiti, Anna Ruggeri, Francesca Dulcetti, Federico Maggi, Giuseppe Simoni and Francesca Romana Grati

    Article first published online : 11 FEB 2014, DOI: 10.1002/pd.4330

  16. Supernumerary marker chromosomes management in prenatal diagnosis

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2770–2776, Nicolas Gruchy, Marine Lebrun, Michel Herlicoviez, Jacques Alliet, Dominique Gourdier, Marie-Laure Kottler, Hervé Mittre and Nathalie Leporrier

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32532

  17. Web Sites of Interest to Immunologists

    Appendix

    Current Protocols in Immunology

    1:A.1J.1–A.1J.74

    Marie-Paule Lefranc

    Published Online : 1 MAR 2006, DOI: 10.1002/0471142735.ima01js71

  18. Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 12, December 2013, Pages: 812–815, Jinglan Liu, Reena Jethva, Michael T. Del Vecchio, John E. Hauptman, Judy M. Pascasio and Jean-Pierre de Chadarévian

    Article first published online : 12 NOV 2013, DOI: 10.1002/bdra.23197

  19. Unusual four-generation chromosome-22 rearrangement: When “normality” masks abnormality

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1561–1564, Julián Nevado, M. Luisa de Torres, Luis Fernández, M. Ángeles Mori, Amelia Villa, María Palomares, Fe García-Santiago, Elena Mansilla, Sixto García-Miñaur, Alicia Delicado and Pablo Lapunzina

    Article first published online : 15 JUN 2009, DOI: 10.1002/ajmg.a.32892

  20. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 10, 15 May 2007, Pages: 1108–1113, Olaya Villa, Miguel del Campo, Marta Salido, Blanca Gener, Laura Astier, Jesús del Valle, Fátima Gallastegui, Luis A. Pérez-Jurado and Francesc Solé

    Article first published online : 12 APR 2007, DOI: 10.1002/ajmg.a.31709