177 related articles for article (PubMed ID: 21595979)
1. Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.
Liao HM; Fang JS; Chen YJ; Wu KL; Lee KF; Chen CH
BMC Med Genet; 2011 May; 12():70. PubMed ID: 21595979
[TBL] [Abstract][Full Text] [Related]
2. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
Vervoort VS; Viljoen D; Smart R; Suthers G; DuPont BR; Abbott A; Schwartz CE
J Med Genet; 2002 Dec; 39(12):893-9. PubMed ID: 12471201
[TBL] [Abstract][Full Text] [Related]
3. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
Bonaglia MC; Giorda R; Borgatti R; Felisari G; Gagliardi C; Selicorni A; Zuffardi O
Am J Hum Genet; 2001 Aug; 69(2):261-8. PubMed ID: 11431708
[TBL] [Abstract][Full Text] [Related]
4. Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
Luukkonen TM; Mehrjouy MM; Pöyhönen M; Anttonen AK; Lahermo P; Ellonen P; Paulin L; Tommerup N; Palotie A; Varilo T
Mol Genet Genomic Med; 2018 Jan; 6(1):56-68. PubMed ID: 29168350
[TBL] [Abstract][Full Text] [Related]
5. [Identification of the breakpoint-flanking markers on chromosomes 1 and 17 of a constitutional translocation T(1;17)(P36;Q12-21) in a patient with neuroblastoma].
Laureys GG
Verh K Acad Geneeskd Belg; 1995; 57(5):389-422. PubMed ID: 8571670
[TBL] [Abstract][Full Text] [Related]
6. [The neuroblastoma, "enfant terrible" among pediatric tumors].
Laureys G
Verh K Acad Geneeskd Belg; 2003; 65(1):5-23; discussion 23-8. PubMed ID: 12802894
[TBL] [Abstract][Full Text] [Related]
7. Characterisation of the chromosome breakpoints in a patient with a constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12) and neuroblastoma.
Laureys G; Versteeg R; Speleman F; van der Drift P; Francke U; Opdenakker G; Van Roy N
Eur J Cancer; 1995; 31A(4):523-6. PubMed ID: 7576958
[TBL] [Abstract][Full Text] [Related]
8. Analysis of 1;17 translocation breakpoints in neuroblastoma: implications for mapping of neuroblastoma genes.
Van Roy N; Laureys G; Van Gele M; Opdenakker G; Miura R; van der Drift P; Chan A; Versteeg R; Speleman F
Eur J Cancer; 1997 Oct; 33(12):1974-8. PubMed ID: 9516836
[TBL] [Abstract][Full Text] [Related]
9. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
Pichon B; Vankerckhove S; Bourrouillou G; Duprez L; Abramowicz MJ
Eur J Hum Genet; 2004 May; 12(5):419-21. PubMed ID: 14997185
[TBL] [Abstract][Full Text] [Related]
10. A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.
Vecchio D; Salzano E; Vecchio A; Roccella M
Minerva Pediatr; 2012 Jun; 64(3):365-7. PubMed ID: 22555332
[TBL] [Abstract][Full Text] [Related]
11. Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers.
Laureys G; Speleman F; Versteeg R; van der Drift P; Chan A; Leroy J; Francke U; Opdenakker G; Van Roy N
Oncogene; 1995 Mar; 10(6):1087-93. PubMed ID: 7700633
[TBL] [Abstract][Full Text] [Related]
12. Non-syndromic mental retardation segregating with an apparently balanced t(1;17) reciprocal translocation through three generations.
Hussain SZ; Evans AL; Ahmed OA; Jones D; McDermot KD; Svennevik EC; Hastings RJ
Am J Med Genet; 2000 Nov; 95(2):99-104. PubMed ID: 11078557
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
14. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
Balci S; Aypar E; Beksaç MS; Bartsch O
Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
[TBL] [Abstract][Full Text] [Related]
15. Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.
Cox JJ; Holden ST; Dee S; Burbridge JI; Raymond FL
J Med Genet; 2003 Mar; 40(3):169-74. PubMed ID: 12624134
[TBL] [Abstract][Full Text] [Related]
16. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
Lai CS; Fisher SE; Hurst JA; Levy ER; Hodgson S; Fox M; Jeremiah S; Povey S; Jamison DC; Green ED; Vargha-Khadem F; Monaco AP
Am J Hum Genet; 2000 Aug; 67(2):357-68. PubMed ID: 10880297
[TBL] [Abstract][Full Text] [Related]
17. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
Lennon PA; Cooper ML; Curtis MA; Lim C; Ou Z; Patel A; Cheung SW; Bacino CA
Am J Med Genet A; 2006 Jun; 140(11):1156-63. PubMed ID: 16688748
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
Fanizza I; Bertuzzo S; Beri S; Scalera E; Massagli A; Sali ME; Giorda R; Bonaglia MC
Eur J Med Genet; 2014 Jul; 57(7):334-8. PubMed ID: 24780630
[TBL] [Abstract][Full Text] [Related]
19. A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
Assawamakin A; Wattanasirichaigoon D; Tocharoentanaphol C; Waeteekul S; Tansatit M; Thongnoppakhun W; Limwongse C
Am J Med Genet A; 2012 Apr; 158A(4):901-8. PubMed ID: 22419381
[TBL] [Abstract][Full Text] [Related]
20. Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.
Wieacker P; Apeshiotis N; Jakubiczka S; Volleth M; Wieland I
Sex Dev; 2007; 1(1):35-41. PubMed ID: 18391514
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
