PMC Articles for MedGen (Select 208643) - PMC

Alicia Delicado, Luis Fernández, María Luisa de Torres, Julián Nevado, Fe Amalia García-Santiago, Roberto Rodríguez, Elena Mansilla, María Palomares, Fernando Santos-Simarro, Elena Vallespín, María Ángeles Mori, Pablo Lapunzina

BMC Med Genet. 2014; 15: 116. Published online 2014 Oct 29. doi: 10.1186/s12881-014-0116-3

PMCID:: PMC4412105

Abstract Article PDF–1.0M

Select item 10497494.

Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.

C A Brandt, T Lyngbye, S Pedersen, L Bolund, U Friedrich

J Med Genet. 1994 Mar; 31(3): 234–237. doi: 10.1136/jmg.31.3.234

PMCID:: PMC1049749

Summary Page Browse PDF–1.1M

Select item 40235505.

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications

Denise M Christofolini, Flavia B Piazzon, Carolina Evo, Fernanda A Mafra, Stella R Cosenza, Alexandre T Dias, Caio P Barbosa, Bianca Bianco, Leslie D Kulikowski

Mol Cytogenet. 2014; 7: 29. Published online 2014 Apr 24. doi: 10.1186/1755-8166-7-29

PMCID:: PMC4023550

Abstract Article PDF–616K

Select item 39059206.

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

Eva Maria Christina Schwaibold, Iris Bartels, Helmut Küster, Michael Lorenz, Peter Burfeind, Ronja Adam, Barbara Zoll

Mol Cytogenet. 2014; 7: 7. Published online 2014 Jan 23. doi: 10.1186/1755-8166-7-7

PMCID:: PMC3905920

Abstract Article PDF–932K

Select item 28924497.

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

Ye Wu, Taoyun Ji, Jingmin Wang, Jing Xiao, Huifang Wang, Jie Li, Zhijie Gao, Yanling Yang, Bin Cai, Liwen Wang, Zhongshu Zhou, Lili Tian, Xiaozhu Wang, Nan Zhong, Jiong Qin, Xiru Wu, Yuwu Jiang

BMC Med Genet. 2010; 11: 72. Published online 2010 May 11. doi: 10.1186/1471-2350-11-72

PMCID:: PMC2892449

Abstract Article PDF–1000K

Select item 10509478.

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

K Devriendt, P Petit, G Matthijs, J R Vermeesch, M Holvoet, A De Muelenaere, P Marynen, J J Cassiman, J P Fryns

J Med Genet. 1997 May; 34(5): 395–399. doi: 10.1136/jmg.34.5.395

PMCID:: PMC1050947

Summary Page Browse PDF–1.3M

Select item 12883229.

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. Speicher, Patrick J. Willems, Thomas Meitinger, R. Frank Kooy

Am J Hum Genet. 2000 Jan; 66(1): 16–25. Published online 1999 Dec 27. doi: 10.1086/302703

PMCID:: PMC1288322

Abstract Article PDF–774K

Select item 137963410.

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain, Jeffrey A Toretsky

BMC Med Genet. 2006; 7: 2. Published online 2006 Jan 13. doi: 10.1186/1471-2350-7-2

PMCID:: PMC1379634

Abstract Article PDF–521K

Select item 173456511.

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

B. Eussen, G. Bartalini, L. Bakker, P. Balestri, L Di, J. O Van Hemel, H. Dauwerse, A. M W van den Ouweland, C. Ris-Stalpers, S. Verhoef, D. Halley, A. Fois

J Med Genet. 2000 Apr; 37(4): 287–291. doi: 10.1136/jmg.37.4.287

PMCID:: PMC1734565

Summary PDF–199K

Select item 173497812.

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

C Martin, D Waggoner, A Wong, S Uhrig, J Roseberry, J Hedrick, S Pack, K Russell, E Zackai, W Dobyns, D Ledbetter

J Med Genet. 2002 Oct; 39(10): 734–740. doi: 10.1136/jmg.39.10.734

PMCID:: PMC1734978

Summary PDF–153K

Select item 235887813.

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Ivon Cuscó, Miguel del Campo, Mireia Vilardell, Eva González, Blanca Gener, Enrique Galán, Laura Toledo, Luis A Pérez-Jurado

BMC Med Genet. 2008; 9: 27. Published online 2008 Apr 11. doi: 10.1186/1471-2350-9-27

PMCID:: PMC2358878

Abstract Article PDF–940K

Select item 256494614.

Chromosomal evolution of the PKD1 gene family in primates

Stefan Kirsch, Juanjo Pasantes, Andreas Wolf, Nadia Bogdanova, Claudia Münch, Petra Pennekamp, Michael Krawczak, Bernd Dworniczak, Werner Schempp

BMC Evol Biol. 2008; 8: 263. Published online 2008 Sep 26. doi: 10.1186/1471-2148-8-263

Correction in:: BMC Evol Biol. 2009; 9: 14.

PMCID:: PMC2564946

Abstract Article PDF–2.6M

Select item 805394215.

Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome

Jingling Li, Thomas Brickler, Allison Banuelos, Kristopher Marjon, Anna Shcherbina, Sravani Banerjee, Jing Bian, Cyndhavi Narayanan, Irving L. Weissman, Sundari Chetty

Proc Natl Acad Sci U S A. 2021 Apr 13; 118(15): e2005483118. Published online 2021 Apr 8. doi: 10.1073/pnas.2005483118

PMCID:: PMC8053942

Abstract Article PDF–2.2M

Select item 292841116.

EFFECTS OF LONG-TERM MEMANTINE ON MEMORY AND NEUROPATHOLOGY IN TS65DN MICE, A MODEL FOR DOWN SYNDROME

Jason Lockrow, Heather Boger, Heather Bimonte-Nelson, Ann-Charlotte Granholm

Behav Brain Res. Author manuscript; available in PMC 2012 Aug 10.

Published in final edited form as: Behav Brain Res. 2011 Aug 10; 221(2): 610–622. Published online 2010 Apr 2. doi: 10.1016/j.bbr.2010.03.036

PMCID:: PMC2928411

Abstract Article PDF–1.5M

Select item 298659017.

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

Abstract Article PDF–235K

Select item 309248218.

DA and Xiao—two giant and composite LTR–retrotransposon-like elements identified in the human genome

Xinglai Ji, Shaying Zhao

Genomics. Author manuscript; available in PMC 2011 May 11.

Published in final edited form as: Genomics. 2008 Mar; 91(3): 249–258. doi: 10.1016/j.ygeno.2007.10.014

PMCID:: PMC3092482

Abstract Article PDF–997K

Select item 316292119.

Genome evolution in the fish family salmonidae: generation of a brook charr genetic map and comparisons among charrs (Arctic charr and brook charr) with rainbow trout

Evan R Timusk, Moira M Ferguson, Hooman K Moghadam, Joseph D Norman, Chris C Wilson, Roy G Danzmann

BMC Genet. 2011; 12: 68. Published online 2011 Jul 28. doi: 10.1186/1471-2156-12-68

PMCID:: PMC3162921

Abstract Article PDF–351K

Select item 333022220.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloes, Brigitte Benzacken, Catalina Betancur

Eur J Hum Genet. 2012 May; 20(5): 540–546. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.244

Correction in:: Eur J Hum Genet. 2012 May; 20(5): 594.

PMCID:: PMC3330222

Abstract Article PDF–533K

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PMC Articles for MedGen (Select 208643) (22)
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Partial duplication of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 16

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C0795861[conceptid] (1)
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Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (...
Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA
gi|13376426|ref|NM_024945.1|

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