440 related articles for article (PubMed ID: 26663057)
1. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
Wu D; Wang H; Zhang H; Hou Q; Qin L; Wang T; Xiao H; Liao S; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
[TBL] [Abstract][Full Text] [Related]
2. [Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion].
Wang H; Wu D; Qin L; Wang T; Zhang H; Xing M; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):361-4. PubMed ID: 27264822
[TBL] [Abstract][Full Text] [Related]
3. [Genetic diagnosis of a child with aortic stenosis and thumb aplasia].
Wu D; Hou Q; Li T; Wang X; Huo X; Gao Y; Zhang M; Ding X; Yang Y; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):531-534. PubMed ID: 30098250
[TBL] [Abstract][Full Text] [Related]
4. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
[TBL] [Abstract][Full Text] [Related]
5. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
Wu D; Li T; Wang H; Shi W; Hou Q; Zhang H; Wang T; Yang Y; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec; 34(6):849-852. PubMed ID: 29188614
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
[TBL] [Abstract][Full Text] [Related]
8. [Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation].
Zhou J; Hu P; Liu A; Li L; Ji X; Hui W; Wang Y; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):52-5. PubMed ID: 24510563
[TBL] [Abstract][Full Text] [Related]
9. Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.
Shimojima K; Okamoto N; Yamamoto T
Congenit Anom (Kyoto); 2015 Aug; 55(3):125-32. PubMed ID: 25900130
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z
Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801
[TBL] [Abstract][Full Text] [Related]
12. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[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. [Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion].
Wu D; Hou Q; Wang H; Li T; Wang X; Kang B; Zhang C; Yang Y; Liu H; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):711-714. PubMed ID: 30298502
[TBL] [Abstract][Full Text] [Related]
15. A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.
Valdes-Miranda JM; Soto-Alvarez JR; Toral-Lopez J; González-Huerta L; Perez-Cabrera A; Gonzalez-Monfil G; Messina-Bass O; Cuevas-Covarrubias S
Eur J Med Genet; 2014 Feb; 57(2-3):60-4. PubMed ID: 24503149
[TBL] [Abstract][Full Text] [Related]
16. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
[TBL] [Abstract][Full Text] [Related]
17. A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.
Wang T; Mao J; Liu MJ; Choy KW; Li HB; Cram DS; Li H; Chen Y
Clin Chim Acta; 2014 Mar; 430():129-33. PubMed ID: 24412318
[TBL] [Abstract][Full Text] [Related]
18. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
[TBL] [Abstract][Full Text] [Related]
19. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
Jonsson DI; Ludvigsson P; Aradhya S; Sigurdardottir S; Steinarsdottir M; Hauksdottir H; Jonsson JJ
Eur J Med Genet; 2012 Jun; 55(6-7):437-40. PubMed ID: 22534424
[TBL] [Abstract][Full Text] [Related]
20. Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.
Kontodiou M; Daskalakis G; Vetro A; Paspaliaris V; Papaioannou G; Dagklis T; Tsakiridis I; Ziegler M; Liehr T; Thomaidis L; Papoulidis I; Manolakos E
Cytogenet Genome Res; 2015; 147(2-3):118-23. PubMed ID: 26681178
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]