181 related articles for article (PubMed ID: 20583184)
1. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
Tabet AC; Aboura A; Gérard M; Pilorge M; Dupont C; Gadisseux JF; Hervy N; Pipiras E; Delahaye A; Kanafani S; Verloes A; Benzacken B; Betancur C
Am J Med Genet A; 2010 Jul; 152A(7):1781-8. PubMed ID: 20583184
[TBL] [Abstract][Full Text] [Related]
2. A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.
Zweier C; Trautmann U; Ekici A; Rauch A
Eur J Med Genet; 2008; 51(4):358-61. PubMed ID: 18342594
[TBL] [Abstract][Full Text] [Related]
3. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.
Lukusa T; Fryns JP
Genet Couns; 2010; 21(1):25-34. PubMed ID: 20420026
[TBL] [Abstract][Full Text] [Related]
4. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation.
Cappon SL; Duncan AM; Khalifa MM
Med Sci Monit; 2000; 6(3):581-5. PubMed ID: 11208374
[TBL] [Abstract][Full Text] [Related]
5. Three cases with de novo 6q imbalance and variable prenatal phenotype.
Grati FR; Lalatta F; Turolla L; Cavallari U; Gentilin B; Rossella F; Cetin I; Antonazzo P; Bellotti M; Dulcetti F; Baldo D; Tenconi R; Simoni G; Miozzo M
Am J Med Genet A; 2005 Jul; 136(3):254-8. PubMed ID: 15957159
[TBL] [Abstract][Full Text] [Related]
6. Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
Doco-Fenzy M; Mauran P; Lebrun JM; Bock S; Bednarek N; Struski S; Albuisson J; Ardalan A; Collot N; Schneider A; Dastot-Le Moal F; Gaillard D; Goossens M
Am J Med Genet A; 2006 Feb; 140(3):212-21. PubMed ID: 16411218
[TBL] [Abstract][Full Text] [Related]
7. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
Qi Z; Jeng LJ; Slavotinek A; Yu J
BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
[TBL] [Abstract][Full Text] [Related]
8. Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.
Chase TR; Jalal SM; Martsolf JT; Wasdahl WA
Am J Med Genet; 1983 Feb; 14(2):347-51. PubMed ID: 6837629
[TBL] [Abstract][Full Text] [Related]
9. A de novo 6q11-q15 duplication investigated by chromosome painting.
Giardino D; Rizzi N; Briscioli V; Bettio D
Clin Genet; 1994 Nov; 46(5):377-9. PubMed ID: 7889650
[TBL] [Abstract][Full Text] [Related]
10. A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
Bonaglia MC; Giorda R; Tenconi R; Pessina M; Pramparo T; Borgatti R; Zuffardi O
Eur J Hum Genet; 2005 May; 13(5):586-91. PubMed ID: 15657611
[TBL] [Abstract][Full Text] [Related]
11. Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3).
Henegariu O; Heerema NA; Vance GH
Am J Med Genet; 1997 Feb; 68(4):450-4. PubMed ID: 9021020
[TBL] [Abstract][Full Text] [Related]
12. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.
Abu-Amero KK; Hellani AM; Salih MA; Seidahmed MZ; Elmalik TS; Zidan G; Bosley TM
BMC Med Genet; 2010 Sep; 11():135. PubMed ID: 20858261
[TBL] [Abstract][Full Text] [Related]
13. Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
Bartsch C; Aslan M; Köhler J; Miny P; Horst J; Holzgreve W; Rehder H; Fritz B
Fetal Diagn Ther; 2001; 16(5):265-73. PubMed ID: 11509847
[TBL] [Abstract][Full Text] [Related]
14. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.
Aboura A; Coulomb-L'Herminé A; Audibert F; Capron F; Frydman R; Tachdjian G
Am J Med Genet; 2002 Mar; 108(2):153-9. PubMed ID: 11857566
[TBL] [Abstract][Full Text] [Related]
15. Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.
Vlckova M; Trkova M; Zemanova Z; Hancarova M; Novotna D; Raskova D; Puchmajerova A; Drabova J; Zmitkova Z; Tan Y; Sedlacek Z
Cytogenet Genome Res; 2012; 136(1):15-20. PubMed ID: 22156400
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. De novo 1q32q44 duplication and distal 1q trisomy syndrome.
Nowaczyk MJ; Bayani J; Freeman V; Watts J; Squire J; Xu J
Am J Med Genet A; 2003 Jul; 120A(2):229-33. PubMed ID: 12833404
[TBL] [Abstract][Full Text] [Related]
18. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
Sukumar S; Wang S; Hoang K; Vanchiere CM; England K; Fick R; Pagon B; Reddy KS
Am J Med Genet; 1999 Nov; 87(1):17-22. PubMed ID: 10528241
[TBL] [Abstract][Full Text] [Related]
19. Pure familial 6q21q22.1 duplication in two generations.
Pazooki M; Lebbar A; Roubergues A; Baverel F; Letessier D; Dupont JM
Eur J Med Genet; 2007; 50(1):60-5. PubMed ID: 17071147
[TBL] [Abstract][Full Text] [Related]
20. De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.
Kitsiou-Tzeli S; Tzetis M; Sofocleous C; Vrettou C; Xaidara A; Giannikou K; Pampanos A; Mavrou A; Kanavakis E
Am J Med Genet A; 2010 Aug; 152A(8):1925-32. PubMed ID: 20575009
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]