289 related articles for article (PubMed ID: 21343628)
1. Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
Balasubramanian M; Smith K; Basel-Vanagaite L; Feingold MF; Brock P; Gowans GC; Vasudevan PC; Cresswell L; Taylor EJ; Harris CJ; Friedman N; Moran R; Feret H; Zackai EH; Theisen A; Rosenfeld JA; Parker MJ
J Med Genet; 2011 May; 48(5):290-8. PubMed ID: 21343628
[TBL] [Abstract][Full Text] [Related]
2. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Rosenfeld JA; Ballif BC; Lucas A; Spence EJ; Powell C; Aylsworth AS; Torchia BA; Shaffer LG
PLoS One; 2009 Aug; 4(8):e6568. PubMed ID: 19668335
[TBL] [Abstract][Full Text] [Related]
5. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
Urquhart J; Black GC; Clayton-Smith J
Eur J Med Genet; 2009; 52(6):454-7. PubMed ID: 19576302
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Dimitrov B; Balikova I; de Ravel T; Van Esch H; De Smedt M; Baten E; Vermeesch JR; Bradinova I; Simeonov E; Devriendt K; Fryns JP; Debeer P
J Med Genet; 2011 Feb; 48(2):98-104. PubMed ID: 21068127
[TBL] [Abstract][Full Text] [Related]
8. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.
von der Lippe C; Rustad C; Heimdal K; Rødningen OK
Eur J Med Genet; 2011; 54(3):357-60. PubMed ID: 21187176
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion].
Jin C; Lei Y; Liu J; Shan Q; Qian B; Zheng F; Chen P; Bai J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):628-631. PubMed ID: 31055823
[TBL] [Abstract][Full Text] [Related]
13. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
[TBL] [Abstract][Full Text] [Related]
14. Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.
Gregoric Kumperscak H; Krgovic D; Vokac NK
J Int Med Res; 2016 Apr; 44(2):395-402. PubMed ID: 26811410
[TBL] [Abstract][Full Text] [Related]
15. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
Balasubramanian M; Smith K; Mordekar SR; Parker MJ
Eur J Med Genet; 2011; 54(3):314-8. PubMed ID: 21315189
[TBL] [Abstract][Full Text] [Related]
16. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.
Ronzoni L; Novelli A; Brisighelli G; Peron A; Triulzi F; Bianchi V; Leva E; Bedeschi MF
Cytogenet Genome Res; 2016; 150(1):23-28. PubMed ID: 27915340
[TBL] [Abstract][Full Text] [Related]
19. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
[TBL] [Abstract][Full Text] [Related]
20. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.
Liang JS; Shimojima K; Ohno K; Sugiura C; Une Y; Ohno K; Yamamoto T
J Med Genet; 2009 Sep; 46(9):645-7. PubMed ID: 19724011
[No Abstract] [Full Text] [Related]
[Next] [New Search]