170 related articles for article (PubMed ID: 27137828)
1. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].
Przybylska-Kruszewska A; Kutkowska-Kaźmierczak A; Krzywdzińska A; Smyk M; Nowakowska B; Gryglicka H; Obersztyn E; Hozyasz KK
Pol Merkur Lekarski; 2016 Apr; 40(238):255-9. PubMed ID: 27137828
[TBL] [Abstract][Full Text] [Related]
2. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
[TBL] [Abstract][Full Text] [Related]
3. De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
Milani D; D'Arrigo S; Guerneri S; Selicorni A; Riva D; Pantaleoni C
J Child Neurol; 2006 Dec; 21(12):1084-5. PubMed ID: 17156706
[TBL] [Abstract][Full Text] [Related]
4. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
Roos L; Jønch AE; Kjaergaard S; Taudorf K; Simonsen H; Hamborg-Petersen B; Brøndum-Nielsen K; Kirchhoff M
J Med Genet; 2009 Oct; 46(10):703-10. PubMed ID: 19520700
[TBL] [Abstract][Full Text] [Related]
5. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Hyon C; Marlin S; Chantot-Bastaraud S; Mabboux P; Beaujard MP; Al Ageeli E; Vazquez MP; Picard A; Siffroi JP; Portnoï MF
Eur J Med Genet; 2011; 54(3):287-91. PubMed ID: 21195811
[TBL] [Abstract][Full Text] [Related]
6. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
Pebrel-Richard C; Kemeny S; Gouas L; Eymard-Pierre E; Blanc N; Francannet C; Tchirkov A; Goumy C; Vago P
Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
[TBL] [Abstract][Full Text] [Related]
7. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
Sismani C; Anastasiadou V; Kousoulidou L; Parkel S; Koumbaris G; Zilina O; Bashiardes S; Spanou E; Kurg A; Patsalis PC
Eur J Med Genet; 2011; 54(5):e510-5. PubMed ID: 21684358
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
[TBL] [Abstract][Full Text] [Related]
10. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
[TBL] [Abstract][Full Text] [Related]
11. A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
Caselli R; Ballarati L; Selicorni A; Milani D; Maitz S; Valtorta C; Larizza L; Giardino D
Eur J Med Genet; 2010; 53(5):325-8. PubMed ID: 20621612
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
[TBL] [Abstract][Full Text] [Related]
14. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
Grigori P; Panayiotou E; Sismani C; Koumbaris G; Ioannides M; Costalos C; Kosmaidou-Aravidou Z; Kousoulidou L; Patsalis PC
Eur J Med Genet; 2011; 54(3):365-8. PubMed ID: 21354346
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
17. [The Phelan-McDermid syndrome (22q13 microdeletion) - case report].
Slezak R; Laczmańska I
Med Wieku Rozwoj; 2011; 15(1):96-100. PubMed ID: 21786519
[TBL] [Abstract][Full Text] [Related]
18. A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?
Ho AC; Liu AP; Lun KS; Tang WF; Chan KY; Lau EY; Tang MH; Tan TY; Chung BH
Eur J Med Genet; 2012 Dec; 55(12):758-62. PubMed ID: 23063769
[TBL] [Abstract][Full Text] [Related]
19. A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
Vittas S; Bisba M; Christopoulou G; Apostolakopoulou L; Pons R; Constantoulakis P
Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510238
[TBL] [Abstract][Full Text] [Related]
20. Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.
Chen CP; Chang TY; Guo WY; Wu PC; Wang LK; Chern SR; Wu PS; Su JW; Chen YT; Chen LF; Wang W
Gene; 2013 Dec; 532(1):152-9. PubMed ID: 24055730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
