76 related articles for article (PubMed ID: 20670697)
1. De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
Stark Z; Bruno DL; Mountford H; Lockhart PJ; Amor DJ
Eur J Med Genet; 2010; 53(5):337-9. PubMed ID: 20670697
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
Cobb W; Anderson A; Turner C; Hoffman RD; Schonberg S; Levin SW
Eur J Med Genet; 2010; 53(6):415-8. PubMed ID: 20832509
[TBL] [Abstract][Full Text] [Related]
4. A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.
Mohrmann I; Gillessen-Kaesbach G; Siebert R; Caliebe A; Hellenbroich Y
Eur J Med Genet; 2011; 54(4):e461-4. PubMed ID: 21600320
[TBL] [Abstract][Full Text] [Related]
5. Recurrent 16p11.2 microdeletions in autism.
Kumar RA; KaraMohamed S; Sudi J; Conrad DF; Brune C; Badner JA; Gilliam TC; Nowak NJ; Cook EH; Dobyns WB; Christian SL
Hum Mol Genet; 2008 Feb; 17(4):628-38. PubMed ID: 18156158
[TBL] [Abstract][Full Text] [Related]
6. Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
Makrythanasis P; Gimelli S; Béna F; Dahoun S; Morris MA; Antonarakis SE; Bottani A
Eur J Med Genet; 2012 Jan; 55(1):63-6. PubMed ID: 22080113
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
Verri A; Maraschio P; Devriendt K; Uggetti C; Spadoni E; Haeusler E; Federico A
Ann Genet; 2004; 47(3):281-7. PubMed ID: 15337474
[TBL] [Abstract][Full Text] [Related]
9. Association between microdeletion and microduplication at 16p11.2 and autism.
Weiss LA; Shen Y; Korn JM; Arking DE; Miller DT; Fossdal R; Saemundsen E; Stefansson H; Ferreira MA; Green T; Platt OS; Ruderfer DM; Walsh CA; Altshuler D; Chakravarti A; Tanzi RE; Stefansson K; Santangelo SL; Gusella JF; Sklar P; Wu BL; Daly MJ;
N Engl J Med; 2008 Feb; 358(7):667-75. PubMed ID: 18184952
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
Lo-Castro A; Giana G; Fichera M; Castiglia L; Grillo L; Musumeci SA; Galasso C; Curatolo P
Eur J Med Genet; 2009; 52(1):67-70. PubMed ID: 18992374
[TBL] [Abstract][Full Text] [Related]
12. Genetic analysis of attractin homologs.
Walker WP; Aradhya S; Hu CL; Shen S; Zhang W; Azarani A; Lu X; Barsh GS; Gunn TM
Genesis; 2007 Dec; 45(12):744-56. PubMed ID: 18064672
[TBL] [Abstract][Full Text] [Related]
13. A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
Barøy T; Misceo D; Braaten O; Helle JR; Fannemel M; Strømme P; Frengen E
Eur J Med Genet; 2010; 53(4):221-4. PubMed ID: 20382277
[TBL] [Abstract][Full Text] [Related]
14. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Delineation of 15q13.3 microdeletions.
Masurel-Paulet A; Andrieux J; Callier P; Cuisset JM; Le Caignec C; Holder M; Thauvin-Robinet C; Doray B; Flori E; Alex-Cordier MP; Beri M; Boute O; Delobel B; Dieux A; Vallee L; Jaillard S; Odent S; Isidor B; Beneteau C; Vigneron J; Bilan F; Gilbert-Dussardier B; Dubourg C; Labalme A; Bidon C; Gautier A; Pernes P; Pinoit JM; Huet F; Mugneret F; Aral B; Jonveaux P; Sanlaville D; Faivre L
Clin Genet; 2010 Aug; 78(2):149-61. PubMed ID: 20236110
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Fernandez BA; Roberts W; Chung B; Weksberg R; Meyn S; Szatmari P; Joseph-George AM; Mackay S; Whitten K; Noble B; Vardy C; Crosbie V; Luscombe S; Tucker E; Turner L; Marshall CR; Scherer SW
J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429
[TBL] [Abstract][Full Text] [Related]
18. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
[TBL] [Abstract][Full Text] [Related]
19. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
[TBL] [Abstract][Full Text] [Related]
20. FISH-mapping of a 100-kb terminal 22q13 deletion.
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
