Search Results

There are 38774 results for: content related to: Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11[RIGHTWARDS ARROW]q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11[RIGHTWARDS ARROW]q21::)/46,XX

  1. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 46–51, Thomas Liehr, Heike Starke, Gabriele Senger, Cindy Melotte, Anja Weise and Joris Robert Vermeesch

    Article first published online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31048

  2. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18

    American Journal of Medical Genetics

    Volume 101, Issue 3, 1 July 2001, Pages: 226–239, Paweł Stankiewicz, Izabela Brozek, Zofia Hélias-Rodzewicz, Jolanta Wierzba, Jacek Pilch, Ewa Bocian, Anna Balcerska, Agnieszka Woźniak, Iwona Kardaś, Jutta Wirth, Tadeusz Mazurczak and Janusz Limon

    Article first published online : 11 JUN 2001, DOI: 10.1002/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-#

  3. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay

    American Journal of Medical Genetics

    Volume 113, Issue 1, 15 November 2002, Pages: 101–104, A. Baumer, M.L. Giovannucci Uzielli, S. Guarducci, E. Lapi, B. Röthlisberger and A. Schinzel

    Article first published online : 17 JUL 2002, DOI: 10.1002/ajmg.10700

  4. Formation of a familial ring chromosome 18 investigated by SNP-array analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1854–1856, Sevim Balci, Johannes Zschocke, Dieter Kotzot, Mehmet Ali Ergün and Ana Spreiz

    Article first published online : 26 MAR 2014, DOI: 10.1002/ajmg.a.36496

  5. Delineation of a ring chromosome 16 by the FISH-technique: a case report with review

    Clinical Genetics

    Volume 51, Issue 3, March 1997, Pages: 196–199, Robert A. Conte, Svetlana M. Kleyman, Chaula Kharode and Ram S. Verma

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02452.x

  6. Ring chromosome 18 in a fetus with only facial anomalies

    American Journal of Medical Genetics

    Volume 66, Issue 2, 11 December 1996, Pages: 216–220, Frans J. Los, Cardi van den Berg, Armando P.G. Braat, Firas K. Cha'ban, Johan M. Kros and Diane Van Opstal

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961211)66:2<216::AID-AJMG18>3.0.CO;2-W

  7. A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping

    Clinical Genetics

    Volume 26, Issue 2, August 1984, Pages: 156–160, Mariano Rocchi, Ileana Cigui, Nicoletta Archidiacono, Vanna Pecile, Giovanni Porcelli and Giorgio Filippi

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1984.tb00806.x

  8. Ring 18 molecular assessment and clinical consequences

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 54–63, Erika Carter, Patricia Heard, Minire Hasi, Bridgette Soileau, Courtney Sebold, Daniel E. Hale and Jannine D. Cody

    Article first published online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36822

  9. Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 234–235, Richard Kellermayer, Judit Gyarmati, Márta Czakó, Alexandra Tészás, György Masszi, Tibor Ertl and György Kosztolányi

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.a.31005

  10. Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2782–2787, Yasemin Soysal, Sevim Balcı, Kuyaş Hekimler, Thomas Liehr, Elisabeth Ewers, Jacqueline Schoumans, The-Hung Bui, Fadime Mutlu İçduygu, Nadezda Kosyakova and Necat İmirzalıoğlu

    Article first published online : 16 NOV 2009, DOI: 10.1002/ajmg.a.33069

  11. Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1858–1867, Ilse Feenstra, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman and Conny M.A. van Ravenswaaij-Arts

    Article first published online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31850

  12. 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

  13. Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 155, Issue 3, March 2011, Pages: 618–621, Thomas P. Slavin, Kevin Kuruvilla, Christine A. Curtis, Laurie A. Christ and Anna L. Mitchell

    Article first published online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33816

  14. Growth hormone neurosecretory dysfunction associated with ring chromosome 18

    Pediatrics International

    Volume 38, Issue 5, October 1996, Pages: 544–548, SEKOIYA ARITAKI, AKIRA TAKAGI, HAYASHI SOMEYA and LI JUN

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1996.tb03543.x

  15. Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 6, 15 March 2006, Pages: 628–632, Sevim Balcı, Özlem Engiz, Dilek Aktaş, Ibrahim Vargel, M.S. Beksaç, Kristin Mrasek, Joris Vermeesch and Thomas Liehr

    Article first published online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31131

  16. Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 25–28, L. Zahed, G. Oreibi, C. Azar and I. Salti

    Article first published online : 25 MAY 2004, DOI: 10.1002/ajmg.a.30099

  17. Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

    Journal of Paediatrics and Child Health

    Volume 34, Issue 1, February 1998, Pages: 92–94, J LITZMAN, V BRYS˘OVÁ, R GAILLYOVÁ, V THON, A PIJÁC˘KOVÁ, K MICHALOVÁ, Z ZEMANOVÁ and J LOKAJ

    Article first published online : 31 OCT 2003, DOI: 10.1046/j.1440-1754.1998.00162.x

  18. You have free access to this content
    Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

    Annals of Human Genetics

    Volume 68, Issue 4, July 2004, Pages: 353–361, A. Anil Timur, Azita Sadgephour, Michael Graf, Stuart Schwartz, Eric D. Libby, David J. Driscoll and Qing Wang

    Article first published online : 28 JUN 2004, DOI: 10.1046/j.1529-8817.2004.00095.x

  19. Characterization of a de novo 48,XX, + r(X), + r(17) by in situ hybridizatio in a patient with neurofibromatosis (NF1)

    American Journal of Medical Genetics

    Volume 45, Issue 1, 1 January 1993, Pages: 22–24, Anne Wiktor, Daniel L. Van Dyke and Lester Weiss

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320450108

  20. FISH characterization of a supernumerary r(1)(::cen[RIGHTWARDS ARROW]q22::q22[RIGHTWARDS ARROW]sq21::) chromosome associated with multiple anomalies and bilateral cataracts

    American Journal of Medical Genetics

    Volume 104, Issue 2, 22 November 2001, Pages: 157–164, Palma Finelli, Pietro Cavalli, Daniela Giardino, Giulietta Gottardi, Federica Natacci, Salvatore Savasta and Lidia Larizza

    Article first published online : 2 OCT 2001, DOI: 10.1002/ajmg.10019