456 related articles for article (PubMed ID: 16179226)
21. Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjöld M; Annerén G
Eur J Med Genet; 2007; 50(3):237-41. PubMed ID: 17387046
[TBL] [Abstract][Full Text] [Related]
22. Subtelomeric chromosome aberrations: still a lot to learn.
Moog U; Arens YH; van Lent-Albrechts JC; Huijts PE; Smeets EE; Schrander-Stumpel CT; Engelen JJ
Clin Genet; 2005 Nov; 68(5):397-407. PubMed ID: 16207207
[TBL] [Abstract][Full Text] [Related]
23. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Bartsch O; Vlcková Z; Erdogan F; Ullmann R; Novotná D; Spiegel M; Beyer V; Haaf T; Zechner U; Seemanová E
Cytogenet Genome Res; 2007; 119(1-2):158-64. PubMed ID: 18160797
[TBL] [Abstract][Full Text] [Related]
24. Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.
Davidsson J; Collin A; Oreberg M; Gisselsson D
Clin Genet; 2008 Jan; 73(1):44-9. PubMed ID: 18005181
[TBL] [Abstract][Full Text] [Related]
25. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
[TBL] [Abstract][Full Text] [Related]
26. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
Vermeesch JR; Melotte C; Salden I; Riegel M; Trifnov V; Polityko A; Rumyantseva N; Naumchik I; Starke H; Matthijs G; Schinzel A; Fryns JP; Liehr T
Eur J Med Genet; 2005; 48(3):319-27. PubMed ID: 16179227
[TBL] [Abstract][Full Text] [Related]
27. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
Le Caignec C; Swillen A; Van Asche E; Fryns JP; Vermeesch JR
Eur J Med Genet; 2005; 48(3):339-45. PubMed ID: 16179229
[TBL] [Abstract][Full Text] [Related]
28. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
[TBL] [Abstract][Full Text] [Related]
29. Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Béri-Deixheimer M; Gregoire MJ; Toutain A; Brochet K; Briault S; Schaff JL; Leheup B; Jonveaux P
Eur J Hum Genet; 2007 Apr; 15(4):446-52. PubMed ID: 17290276
[TBL] [Abstract][Full Text] [Related]
30. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
Shimojima K; Páez MT; Kurosawa K; Yamamoto T
Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
[TBL] [Abstract][Full Text] [Related]
31. [Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome].
Zhu XY; Zhao R; Ye ZC; Peng YG; Tan YQ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Dec; 22(6):682-3. PubMed ID: 16331572
[TBL] [Abstract][Full Text] [Related]
32. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.
Bonaglia MC; Giorda R; Poggi G; Raggi ME; Rossi E; Baroncini A; Giglio S; Borgatti R; Zuffardi O
Eur J Hum Genet; 2000 Aug; 8(8):597-603. PubMed ID: 10951522
[TBL] [Abstract][Full Text] [Related]
33. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
34. Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.
Jelin A; Perry H; Hogue J; Oberoi S; Cotter PD; Klein OD
J Craniofac Surg; 2010 Sep; 21(5):1376-9. PubMed ID: 20856024
[TBL] [Abstract][Full Text] [Related]
35. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
Le Caignec C; Boceno M; Saugier-Veber P; Jacquemont S; Joubert M; David A; Frebourg T; Rival JM
J Med Genet; 2005 Feb; 42(2):121-8. PubMed ID: 15689449
[TBL] [Abstract][Full Text] [Related]
36. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124
[TBL] [Abstract][Full Text] [Related]
37. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Koolen DA; Nillesen WM; Versteeg MH; Merkx GF; Knoers NV; Kets M; Vermeer S; van Ravenswaaij CM; de Kovel CG; Brunner HG; Smeets D; de Vries BB; Sistermans EA
J Med Genet; 2004 Dec; 41(12):892-9. PubMed ID: 15591274
[TBL] [Abstract][Full Text] [Related]
38. [Chromosomal causes that produce mental retardation: chromosome disorders that can be diagnosed in the patient].
Guitart-Feliubadaló M; Brunet-Vega A; Villatoro-Gómez S; Baena-Díez N; Gabau-Vila E
Rev Neurol; 2006 Jan; 42 Suppl 1():S21-6. PubMed ID: 16506128
[TBL] [Abstract][Full Text] [Related]
39. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E; Riegel M; Messa J; Gimelli S; Maraschio P; Ciccone R; Stroppi M; Riva P; Perrotta CS; Mattina T; Memo L; Baumer A; Kucinskas V; Castellan C; Schinzel A; Zuffardi O
J Med Genet; 2008 Mar; 45(3):147-54. PubMed ID: 18006671
[TBL] [Abstract][Full Text] [Related]
40. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]