267 related articles for article (PubMed ID: 21211576)
1. De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
Magri C; Piovani G; Pilotta A; Michele T; Buzi F; Barlati S
Eur J Med Genet; 2011; 54(3):361-4. PubMed ID: 21211576
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
Gorski JL; Cox BA; Kyine M; Uhlmann W; Glover TW
Am J Med Genet; 1989 Mar; 32(3):350-2. PubMed ID: 2729355
[TBL] [Abstract][Full Text] [Related]
5. A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.
van Diepen MM; Gijsbers AC; Bosch CA; Oudesluys-Murphy AM; Ruivenkamp CA; Bijlsma EK
Eur J Med Genet; 2011; 54(1):86-8. PubMed ID: 20870045
[TBL] [Abstract][Full Text] [Related]
6. Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
de Ravel TJ; Balikova I; Thiry P; Vermeesch JR; Frijns JP
Eur J Med Genet; 2009; 52(2-3):120-2. PubMed ID: 19284984
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.
Lo-Castro A; El-Malhany N; Galasso C; Verrotti A; Nardone AM; Postorivo D; Palmieri C; Curatolo P
Eur J Med Genet; 2011; 54(3):329-32. PubMed ID: 21333764
[TBL] [Abstract][Full Text] [Related]
9. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
Rocca MS; Faletra F; Devescovi R; Gasparini P; Pecile V
Eur J Med Genet; 2013 Jan; 56(1):62-5. PubMed ID: 23142270
[TBL] [Abstract][Full Text] [Related]
10. Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.
de Almeida JC; Reis DF; Martins RR
Ann Genet; 1989; 32(3):184-6. PubMed ID: 2817780
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
[TBL] [Abstract][Full Text] [Related]
15. Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.
Saal HM; King LJ; Zimmerman D; Johnson RC; Carr AG; Samango-Sprouse CA; Stanley W
Am J Med Genet; 1996 Dec; 66(4):373-7. PubMed ID: 8989454
[TBL] [Abstract][Full Text] [Related]
16. [The (18)(q 22----qter) deletion in patients with complete clinical features of the De Grouchy syndrome].
Vranjesević D; Dukić S; Jović N; Branković S; Kosanović M
Neurol Croat; 1991; 40(1):39-47. PubMed ID: 2070033
[TBL] [Abstract][Full Text] [Related]
17. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Lukusa T; Vermeesch JR; Holvoet M; Fryns JP; Devriendt K
Genet Couns; 2004; 15(3):293-301. PubMed ID: 15517821
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.
Wohlleber E; Kirchhoff M; Zink AM; Kreiss-Nachtsheim M; Küchler A; Jepsen B; Kjaergaard S; Engels H
Eur J Med Genet; 2011; 54(1):67-72. PubMed ID: 20950717
[TBL] [Abstract][Full Text] [Related]
19. Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
Quack B; Van Roy N; Verschraegen-Spae MR; Klein F
Ann Genet; 1992; 35(4):241-4. PubMed ID: 1296524
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
Ballarati L; Cereda A; Caselli R; Selicorni A; Recalcati MP; Maitz S; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2011; 54(1):55-9. PubMed ID: 20969981
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
