Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 17

1.

Tandem repeats and G-rich sequences are enriched at human CNV breakpoints.

Bose P, Hermetz KE, Conneely KN, Rudd MK.

PLoS One. 2014 Jul 1;9(7):e101607. doi: 10.1371/journal.pone.0101607. eCollection 2014.

PMID:
24983241
[PubMed - in process]
Free PMC Article
2.

Large inverted duplications in the human genome form via a fold-back mechanism.

Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK.

PLoS Genet. 2014 Jan 30;10(1):e1004139. doi: 10.1371/journal.pgen.1004139. eCollection 2014 Jan.

PMID:
24497845
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E.

PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14.

PMID:
23516377
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D.

Eur J Hum Genet. 2013 Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub 2012 Dec 12.

PMID:
23232695
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR.

Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14.

PMID:
22890305
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Update on Kleefstra Syndrome.

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T.

Mol Syndromol. 2012 Apr;2(3-5):202-212. Epub 2012 Jan 24.

PMID:
22670141
[PubMed]
Free PMC Article
7.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

PMID:
21964572
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W.

Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042.

PMID:
21925314
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM.

Hum Mutat. 2011 Oct;32(10):1075-99. doi: 10.1002/humu.21557. Epub 2011 Sep 2. Review.

PMID:
21853507
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14.

PMID:
21779178
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK.

Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4.

PMID:
21729882
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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

Cheung HC, Yatsenko SA, Kadapakkam M, Legay H, Su J, Lupski JR, Plon SE.

Pediatr Blood Cancer. 2012 May;58(5):801-5. doi: 10.1002/pbc.23219. Epub 2011 Jun 16.

PMID:
21681934
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC.

Mol Cytogenet. 2009 Dec 18;2:27. doi: 10.1186/1755-8166-2-27.

PMID:
20021661
[PubMed]
Free PMC Article
14.

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G.

J Clin Endocrinol Metab. 2010 Feb;95(2):765-71. doi: 10.1210/jc.2009-1581. Epub 2009 Dec 11.

PMID:
20008020
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA.

J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. Erratum in: J Allergy Clin Immunol. 2010 Mar;125(3):743. Kutuculer, Necil [corrected to Kutukculer, Necil].

PMID:
20004785
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mechanisms of change in gene copy number.

Hastings PJ, Lupski JR, Rosenberg SM, Ira G.

Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Review.

PMID:
19597530
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genomic disorders ten years on.

Lupski JR.

Genome Med. 2009 Apr 24;1(4):42. doi: 10.1186/gm42.

PMID:
19439022
[PubMed]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk