190 related articles for article (PubMed ID: 23897601)
1. Pure duplication of 19p13.3.
Ishikawa A; Enomoto K; Tominaga M; Saito T; Nagai J; Furuya N; Ueno K; Ueda H; Masuno M; Kurosawa K
Am J Med Genet A; 2013 Sep; 161A(9):2300-4. PubMed ID: 23897601
[TBL] [Abstract][Full Text] [Related]
2. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F
Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326
[TBL] [Abstract][Full Text] [Related]
3. Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Masri A; Gimelli S; Hamamy H; Sloan-Béna F
Am J Med Genet A; 2014 May; 164A(5):1254-61. PubMed ID: 24478242
[TBL] [Abstract][Full Text] [Related]
4. Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
Kehrer M; Liehr T; Benkert T; Singer S; Grasshoff U; Schaeferhoff K; Bonin M; Weichselbaum A; Tzschach A
Am J Med Genet A; 2015 Mar; 167A(3):653-6. PubMed ID: 25691419
[TBL] [Abstract][Full Text] [Related]
5. Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
Papadopoulou E; Sismani C; Christodoulou C; Ioannides M; Kalmanti M; Patsalis P
Am J Med Genet A; 2010 Jun; 152A(6):1515-22. PubMed ID: 20503328
[TBL] [Abstract][Full Text] [Related]
6. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
[TBL] [Abstract][Full Text] [Related]
7. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.
Preiksaitiene E; Benušienė E; Ciuladaite Z; Šliužas V; Mikštienė V; Kučinskas V
Taiwan J Obstet Gynecol; 2016 Jun; 55(3):410-4. PubMed ID: 27343325
[TBL] [Abstract][Full Text] [Related]
8. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
Novara F; Alfei E; D'Arrigo S; Pantaleoni C; Beri S; Achille V; Sciacca FL; Giorda R; Zuffardi O; Ciccone R
Eur J Med Genet; 2013 Jan; 56(1):54-8. PubMed ID: 23085304
[TBL] [Abstract][Full Text] [Related]
9. A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
Okamoto N; Fujii T; Tanaka J; Saito K; Matsui T; Harada N
Am J Med Genet A; 2014 Jan; 164A(1):213-9. PubMed ID: 24259393
[TBL] [Abstract][Full Text] [Related]
10. Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.
Brambila-Tapia AJ; Neira VA; Vásquez-Velásquez AI; Jimenez-Arredondo RE; Chávez-González EL; Picos-Cárdenas VJ; Fletes-Rayas AL; Figuera LE
Genet Couns; 2014; 25(3):289-97. PubMed ID: 25365851
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI; Santos AP; Molck MC; Simioni M; Nascimento DL; Andrade AK; Rosenberg C; Krepischi AC; Appenzeller S; Monlleó IL; Gil-da-Silva-Lopes VL
Am J Med Genet A; 2016 Mar; 170(3):766-72. PubMed ID: 26638882
[TBL] [Abstract][Full Text] [Related]
12. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
Mizuno S; Fukushi D; Kimura R; Yamada K; Yamada Y; Kumagai T; Wakamatsu N
Am J Med Genet A; 2011 Sep; 155A(9):2274-80. PubMed ID: 21834029
[TBL] [Abstract][Full Text] [Related]
13. Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.
Shuib S; Saaid NN; Zakaria Z; Ismail J; Abdul Latiff Z
Malays J Pathol; 2017 Apr; 39(1):77-81. PubMed ID: 28413209
[TBL] [Abstract][Full Text] [Related]
14. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
[TBL] [Abstract][Full Text] [Related]
15. Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
Paskulin GA; Riegel M; Cotter PD; Kiss A; Rosa RF; Zen PR; Mombach R; Graziadio C
Am J Med Genet A; 2009 Jun; 149A(6):1302-7. PubMed ID: 19449429
[TBL] [Abstract][Full Text] [Related]
16. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
Shieh JT; Aradhya S; Novelli A; Manning MA; Cherry AM; Brumblay J; Salpietro CD; Bernardini L; Dallapiccola B; Hoyme HE
Am J Med Genet A; 2006 Jun; 140(12):1267-73. PubMed ID: 16691576
[TBL] [Abstract][Full Text] [Related]
17. Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.
Chen CP; Lin SP; Chern SR; Kuo YL; Wu PS; Chen YT; Lee MS; Wang W
Gene; 2014 Feb; 535(1):88-92. PubMed ID: 24279999
[TBL] [Abstract][Full Text] [Related]
18. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Peeters H; Vermeesch J; Fryns JP
Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
[TBL] [Abstract][Full Text] [Related]
19. Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Vera-Carbonell A; López-González V; Bafalliu JA; Piñero-Fernández J; Susmozas J; Sorli M; López-Pérez R; Fernández A; Guillén-Navarro E; López-Expósito I
Am J Med Genet A; 2013 Sep; 161A(9):2369-75. PubMed ID: 23894102
[TBL] [Abstract][Full Text] [Related]
20. A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review.
Pavone P; Praticò AD; Falsaperla R; Ruggieri M; Neri G; Pavone V; Zollino M
Clin Dysmorphol; 2016 Jul; 25(3):121-7. PubMed ID: 26918294
[No Abstract] [Full Text] [Related]
[Next] [New Search]
