293 related articles for article (PubMed ID: 17998173)
1. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
[TBL] [Abstract][Full Text] [Related]
2. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
3. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
[TBL] [Abstract][Full Text] [Related]
4. A case of interstitial 1q deletion [46,XY,del(q25q32.1)].
Hamano S; Fukushima Y; Yamada T; Shimizu H; Okuyama M; Ito F; Maekawa K
Ann Genet; 1987; 30(2):105-8. PubMed ID: 3314663
[TBL] [Abstract][Full Text] [Related]
5. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.
Lin AE; Garver KL; Diggans G; Clemens M; Wenger SL; Steele MW; Jones MC; Israel J
Am J Med Genet; 1988 Nov; 31(3):533-48. PubMed ID: 3067575
[TBL] [Abstract][Full Text] [Related]
6. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
de Ravel T; Aerssens P; Vermeesch JR; Fryns JP
Eur J Med Genet; 2005; 48(3):355-9. PubMed ID: 16179232
[TBL] [Abstract][Full Text] [Related]
7. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
[TBL] [Abstract][Full Text] [Related]
8. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
Qumsiyeh MB; Stevens CA
Am J Med Genet; 1993 Sep; 47(3):387-91. PubMed ID: 8135287
[TBL] [Abstract][Full Text] [Related]
13. Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
Piovani G; Borsani G; Bertini V; Kalscheuer VM; Viertel P; Bellotti D; Valseriati D; Barlati S
Eur J Med Genet; 2006; 49(3):215-23. PubMed ID: 16762823
[TBL] [Abstract][Full Text] [Related]
14. Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
Mdzin R; Ko C; Abdul Latif Z; Zakaria Z
Singapore Med J; 2008 Nov; 49(11):e336-9. PubMed ID: 19037546
[TBL] [Abstract][Full Text] [Related]
15. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Wieczorek D; Krause M; Majewski F; Albrecht B; Horn D; Riess O; Gillessen-Kaesbach G
Eur J Hum Genet; 2000 Jul; 8(7):519-26. PubMed ID: 10909852
[TBL] [Abstract][Full Text] [Related]
16. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
Cai T; Yu P; Tagle DA; Xia J
Am J Med Genet; 1999 Oct; 86(4):305-11. PubMed ID: 10494083
[TBL] [Abstract][Full Text] [Related]
17. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
South ST; Whitby H; Battaglia A; Carey JC; Brothman AR
Eur J Hum Genet; 2008 Jan; 16(1):45-52. PubMed ID: 17726485
[TBL] [Abstract][Full Text] [Related]
18. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
[TBL] [Abstract][Full Text] [Related]
19. "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
Zollino M; Wright TJ; Di Stefano C; Tosolini A; Battaglia A; Altherr MR; Neri G
Am J Med Genet; 1999 Feb; 82(5):371-5. PubMed ID: 10069706
[TBL] [Abstract][Full Text] [Related]
20. Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
Courtens W; Speleman F; Messiaen L; Bormans J; Van Roy N; Vamos E
Am J Med Genet; 1997 Sep; 71(4):479-85. PubMed ID: 9286460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]