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Items: 1 to 20 of 43

1.
Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome
Sanjay Premi, Jyoti Srivastava, Ganesan Panneer, Sher Ali
PLoS One. 2008; 3(11): e3796. Published online 2008 Nov 24. doi: 10.1371/journal.pone.0003796
PMCID:
PMC2582957
AbstractArticlePDF–1.0M
2.
Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Ana Paula Abreu, Andrew Dauber, Delanie B. Macedo, Sekoni D. Noel, Vinicius N. Brito, John C. Gill, Priscilla Cukier, Iain R. Thompson, Victor M. Navarro, Priscila C. Gagliardi, Tânia Rodrigues, Cristiane Kochi, Carlos Alberto Longui, Dominique Beckers, Francis de Zegher, Luciana R. Montenegro, Berenice B. Mendonca, Rona S. Carroll, Joel N. Hirschhorn, Ana Claudia Latronico, Ursula B. Kaiser
N Engl J Med. Author manuscript; available in PMC 2013 Dec 27.
Published in final edited form as: N Engl J Med. 2013 Jun 27; 368(26): 10.1056/NEJMoa1302160. Published online 2013 Jun 5. doi: 10.1056/NEJMoa1302160
PMCID:
PMC3808195
AbstractArticlePDF–264K
3.
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)
Rie Ohba, Kazumichi Furuyama, Kenichi Yoshida, Tohru Fujiwara, Noriko Fukuhara, Yasushi Onishi, Atsushi Manabe, Etsuro Ito, Keiya Ozawa, Seiji Kojima, Seishi Ogawa, Hideo Harigae
Ann Hematol. 2013; 92(1): 1–9. Published online 2012 Sep 16. doi: 10.1007/s00277-012-1564-5
PMCID:
PMC3536986
AbstractArticlePDF–239K
4.
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, Jacopo Azzollini, Anna Cereda, Giuseppe Zampino, Oskar Haas, Gioacchino Scarano, Maja Di Rocco, Palma Finelli, Romano Tenconi, Angelo Selicorni, Lidia Larizza
Eur J Hum Genet. 2012 Jul; 20(7): 734–741. Published online 2012 Feb 22. doi: 10.1038/ejhg.2012.7
PMCID:
PMC3376273
AbstractArticlePDF–664K
5.
Telomerase RNA biogenesis involves sequential binding by Sm and Lsm complexes
Wen Tang, Ram Kannan, Marco Blanchette, Peter Baumann
Nature. Author manuscript; available in PMC 2012 Oct 12.
Published in final edited form as: Nature. 2012 Apr 12; 484(7393): 260–264. Published online 2012 Mar 25. doi: 10.1038/nature10924
PMCID:
PMC3326189
AbstractArticlePDF–1.2M
6.
Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes
Rekha Chaubey, Sudha Sazawal, Rima Dada, Manoranjan Mahapatra, Renu Saxena
Indian J Med Res. 2011 Oct; 134(4): 452–457.
PMCID:
PMC3237242
AbstractArticlePDF–361K
7.
22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH
S.U. Dhar, D. del Gaudio, J.R. German, S.U. Peters, Z. Ou, P.I. Bader, J.S. Berg, M. Blazo, C.W. Brown, B.H. Graham, T.A. Grebe, S. Lalani, M. Irons, S. Sparagana, M. Williams, J.A. Phillips, III, A.L. Beaudet, P. Stankiewicz, A. Patel, S.W. Cheung, T. Sahoo
Am J Med Genet A. Author manuscript; available in PMC 2011 Jun 22.
Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 573–581. doi: 10.1002/ajmg.a.33253
PMCID:
PMC3119894
AbstractArticlePDF–1.0M
8.
Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
S. S. Kim, S. C. Jung, H. J. Kim, H. R. Moon, J. S. Lee
J Korean Med Sci. 1999 Aug; 14(4): 373–376. doi: 10.3346/jkms.1999.14.4.373
PMCID:
PMC3054395
SummaryPDF–417K
9.
Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies
Hideki Makishima, Heather Cazzolli, Hadrian Szpurka, Andrew Dunbar, Ramon Tiu, Jungwon Huh, Hideki Muramatsu, Christine O'Keefe, Eric Hsi, Ronald L. Paquette, Seiji Kojima, Alan F. List, Mikkael A. Sekeres, Michael A. McDevitt, Jaroslaw P. Maciejewski
J Clin Oncol. 2009 Dec 20; 27(36): 6109–6116. Published online 2009 Nov 9. doi: 10.1200/JCO.2009.23.7503
PMCID:
PMC3040009
AbstractArticlePDF–470K
10.
16p subtelomeric duplication: a clinically recognizable syndrome
Maria Cristina Digilio, Laura Bernardini, Anna Capalbo, Rossella Capolino, Maria Giulia Gagliardi, Bruno Marino, Antonio Novelli, Bruno Dallapiccola
Eur J Hum Genet. 2009 Sep; 17(9): 1135–1140. Published online 2009 Mar 18. doi: 10.1038/ejhg.2009.14
PMCID:
PMC2986590
AbstractArticlePDF–235K
11.
Tumor suppressor candidate TSSC5 is regulated by UbcH6and a novel ubiquitin ligase RING105
HY Yamada, GJ Gorbsky
Oncogene. Author manuscript; available in PMC 2009 Jul 21.
Published in final edited form as: Oncogene. 2006 Mar 2; 25(9): 1330–1339. doi: 10.1038/sj.onc.1209167
PMCID:
PMC2713668
AbstractArticlePDF–1.2M
12.
Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome
Siddharth Prakash, Dongchuan Guo, Cheryl L. Maslen, Michael Silberbach, GenTAC Investigators, Dianna Milewicz, Carolyn A. Bondy
Genet Med. Author manuscript; available in PMC 2014 Jan 8.
Published in final edited form as: Genet Med. 2014 Jan; 16(1): 10.1038/gim.2013.77. Published online 2013 Jun 6. doi: 10.1038/gim.2013.77
Correction in:
volume 16 on page 117
PMCID:
PMC3883919
AbstractArticlePDF–3.5M
13.
Neurological and neuropathological findings in ring chromosome 4.
R S Young, E L Zalneraitis
J Med Genet. 1980 Dec; 17(6): 487–490. doi: 10.1136/jmg.17.6.487
PMCID:
PMC1885932
SummaryPage BrowsePDF–799K
14.
The 52 000 MW Ro/SS-A autoantigen in Sjögren's syndrome/systemic lupus erythematosus (Ro52) is an interferon-γ inducible tripartite motif protein associated with membrane proximal structures
Davd A Rhodes, Gudrun Ihrke, Anna T Reinicke, Georg Malcherek, Michael Towey, David A Isenberg, John Trowsdale
Immunology. 2002 Jun; 106(2): 246–256. doi: 10.1046/j.1365-2567.2002.01417.x
PMCID:
PMC1782712
AbstractArticlePDF–497K
15.
Hypogammaglobulinaemia in a patient with ring chromosome 21
S. Ohga, F. Nakao, O. Narazaki, N. Fusazaki, T. Aoki, K. Kamesaki, T. Hara
Arch Dis Child. 1997 Sep; 77(3): 252–254. doi: 10.1136/adc.77.3.252
PMCID:
PMC1717297
SummaryPDF–72K
16.
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
P vanTuinen, W B Dobyns, D C Rich, K M Summers, T J Robinson, Y Nakamura, D H Ledbetter
Am J Hum Genet. 1988 Nov; 43(5): 587–596.
PMCID:
PMC1715542
SummaryPage BrowsePDF–1.6M
17.
The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.
V M Park, K M Gustashaw, T M Wathen
Am J Hum Genet. 1992 May; 50(5): 914–923.
PMCID:
PMC1682611
SummaryPage BrowsePDF–1.9M
18.
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
M. J. McGinniss, H. H. Kazazian, G. Stetten, M. B. Petersen, H. Boman, E. Engel, F. Greenberg, J. M. Hertz, A. Johnson, Z. Laca, M. Mikkelsen, S. R. Patil, A. A. Schinzel, L. Tranebjaerg, S. E. Antonarakis
Am J Hum Genet. 1992 Jan; 50(1): 15–28.
PMCID:
PMC1682523
SummaryPage BrowsePDF–2.5M
19.
Delineation of 14q32.3 deletion syndrome.
A P Ortigas, C K Stein, L L Thomson, J J Hoo
J Med Genet. 1997 Jun; 34(6): 515–517. doi: 10.1136/jmg.34.6.515
PMCID:
PMC1050980
SummaryPage BrowsePDF–707K
20.
Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.
M Nuutinen, K Kouvalainen, M Knip
J Med Genet. 1995 Jun; 32(6): 486–487. doi: 10.1136/jmg.32.6.486
PMCID:
PMC1050492
SummaryPage BrowsePDF–345K

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