Search Results

There are 23211 results for: content related to: Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

  1. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 100, Issue 12, December 2014, Pages: 985–990, Candace L. Campbell, R. Thomas Collins II and Yuri A. Zarate

    Version of Record online : 7 NOV 2014, DOI: 10.1002/bdra.23324

  2. The chromosome 9q subtelomere deletion syndrome

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

    Volume 145C, Issue 4, 15 November 2007, Pages: 383–392, Douglas R. Stewart and Tjitske Kleefstra

    Version of Record online : 1 OCT 2007, DOI: 10.1002/ajmg.c.30148

  3. Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma

    Pediatric Blood & Cancer

    Volume 58, Issue 5, May 2012, Pages: 801–805, Hannah C. Cheung, Svetlana A. Yatsenko, Meena Kadapakkam, Hélène Legay, Jack Su, James R. Lupski and Sharon E. Plon

    Version of Record online : 16 JUN 2011, DOI: 10.1002/pbc.23219

  4. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 6, 15 March 2006, Pages: 618–623, Tjitske Kleefstra, David A. Koolen, Willy M. Nillesen, Nicole de Leeuw, Ben C.J. Hamel, Joris A. Veltman, Erik A. Sistermans, Hans van Bokhoven, Conny van Ravenswaay and Bert B.A. de Vries

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31123

  5. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2274–2280, Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai and Nobuaki Wakamatsu

    Version of Record online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34160

  6. Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2409–2415, Willem M.A. Verhoeven, Jos I.M. Egger, Karlijn Vermeulen, Bart P.C. van de Warrenburg and Tjitske Kleefstra

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34186

  7. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

    Prenatal Diagnosis

    Volume 27, Issue 12, 15 December 2007, Pages: 1112–1117, Marcia J. Simovich, Svetlana A. Yatsenko, Sung-Hae L. Kang, Sau Wai Cheung, Martha E. Dudek, Amber Pursley, Patricia A. Ward, Ankita Patel and James R. Lupski

    Version of Record online : 12 SEP 2007, DOI: 10.1002/pd.1841

  8. Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1

    American Journal of Medical Genetics

    Volume 107, Issue 3, 22 January 2002, Pages: 190–196, Ian P. Blair, Roxanne R. Gibson, Craig L. Bennett and Phillip F. Chance

    Version of Record online : 4 DEC 2001, DOI: 10.1002/ajmg.10145

  9. A girl with duplication 9q34 syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 2019–2023, Katarzyna Gawlik-Kuklinska, Mariola Iliszko, Agnieszka Wozniak, Maria Debiec-Rychter, Iwona Kardas, Jolanta Wierzba and Janusz Limon

    Version of Record online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31847

  10. Prognostic relevance of 9q34 deletion and the suppressor of cytokine signalling-1 in CML patients

    International Journal of Laboratory Hematology

    Volume 32, Issue 1p2, February 2010, Pages: 103–112, F. GHAITH, S. ABDOU, A. EL-BENDARY, D. SHAHIN, M. EID, W. A. MEGEED, I. EL-SHEIKH, W. FARRAG and S. YOUSUF

    Version of Record online : 15 FEB 2009, DOI: 10.1111/j.1751-553X.2009.01143.x

  11. Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1515–1522, Eleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, Marios Ioannides, Maria Kalmanti and Philippos Patsalis

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33302

  12. 9q34.3 deletion syndrome in three unrelated children

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 278–283, Mie Iwakoshi, Nobuhiko Okamoto, Naoki Harada, Tsuyoshi Nakamura, Shunji Yamamori, Hiroko Fujita, Norio Niikawa and Dr. Naomichi Matsumoto

    Version of Record online : 5 FEB 2004, DOI: 10.1002/ajmg.a.20602

  13. Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 [RIGHTWARDS ARROW] 9pter and deletion of 9q34.3

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1981–1987, Montakarn Tansatit, Narisorn Kongruttanachok, Walaiwan Kongnak, Suparp Arunpan, Pikul Maneeshote, Vanida Buasorn, Verayuth Praphanphoj and Vorasuk Shotelersuk

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31424

  14. Abstracts

    Annals of Human Genetics

    Volume 58, Issue 3, July 1994, Pages: 201–250,

    Version of Record online : 28 SEP 2007, DOI: 10.1111/j.1469-1809.1994.tb01888.x

  15. Cryptic duplication and deletion of 9q34.3 [RIGHTWARDS ARROW] qter in a family with a t(9;22)(q34.3;p11.2)

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 51–55, Travis M. Sanger, Ann Haskins Olney, Dianna Zaleski, Diane Pickering, Marilu Nelson, Warren G. Sanger and Bhavana J. Dave

    Version of Record online : 15 AUG 2005, DOI: 10.1002/ajmg.a.30922

  16. You have free access to this content
    Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 853–859, Willy M. Nillesen, Helger G. Yntema, Marco Moscarda, Nienke E. Verbeek, Louise C. Wilson, Frances Cowan, Marga Schepens, Annick Raas-Rothschild, Orly Gafni-Weinstein, Marcella Zollino, Raymon Vijzelaar, Giovanni Neri, Marcel Nelen, Hans van Bokhoven, Jacques Giltay and Tjitske Kleefstra

    Version of Record online : 27 JUN 2011, DOI: 10.1002/humu.21523

  17. De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 2966–2974, Ina E. Amarillo, Shawn O'Connor, Caroline K. Lee, Marcia Willing and Jennifer A. Wambach

    Version of Record online : 19 AUG 2015, DOI: 10.1002/ajmg.a.37296

  18. Chronic myelogenous leukemia and genetic events at 9q34

    Hematological Oncology

    Volume 1, Issue 3, July/September 1983, Pages: 269–274, Jerry P. Lewis, E. John Watson-Williams, Jack Lazerson and Helen M. Jenks

    Version of Record online : 2 NOV 2007, DOI: 10.1002/hon.2900010309

  19. Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy

    American Journal of Medical Genetics

    Volume 93, Issue 4, 14 August 2000, Pages: 305–312, Herman E. Wyandt, Roger V. Lebo, Elif Yosunkaya Fenerci, Devaki N. Sadhu and Jeff M. Milunsky

    Version of Record online : 11 AUG 2000, DOI: 10.1002/1096-8628(20000814)93:4<305::AID-AJMG10>3.0.CO;2-K

  20. REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992

    Annals of Human Genetics

    Volume 56, Issue 3, July 1992, Pages: 167–182, S. POVEY, M. SMITH, J. HAINES, D. KWIATKOWSKI, J. FOUNTAIN, A. BALE, C. ABBOTT, I. JACKSON, M. LAWRIE and M. HULTÉN

    Version of Record online : 28 SEP 2007, DOI: 10.1111/j.1469-1809.1992.tb01145.x