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Literature DB >> 20086308

Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement.

Yanliang Zhang¹, Yong Dai, Zhiguang Tu, Qiyun Li, Li Zhang, Linqian Wang.

Abstract

Mesh：

Year: 2009 PMID： 20086308 DOI： 10.1007/s12041-009-0056-4

Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166

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17 in total

1. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Authors: Tom Hearn; Glenn L Renforth; Cosma Spalluto; Neil A Hanley; Karen Piper; Sarah Brickwood; Chris White; Vincent Connolly; James F N Taylor; Isabelle Russell-Eggitt; Dominque Bonneau; Mark Walker; David I Wilson
Journal: Nat Genet Date: 2002-04-08 Impact factor: 38.330

2. A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p.

Authors: L Zwaigenbaum; L K Sonnenberg; T Heshka; S Eastwood; J Xu
Journal: J Autism Dev Disord Date: 2005-06

Review 3. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.

Authors: Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Chyi-Chyang Lin; Yueh-Chun Li; Lie-Jiau Hsieh; Wen-Lin Chen; Wayseen Wang
Journal: Prenat Diagn Date: 2006-02 Impact factor: 3.050

4. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.

Authors: Gro Oddveig Ness; Helle Lybaek; Gunnar Houge
Journal: Am J Med Genet Date: 2002-11-22

5. Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors: S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal: J Med Genet Date: 1990-07 Impact factor: 6.318

6. Complex chromosome rearrangements. Report of a new case and literature review.

Authors: G S Pai; G H Thomas; W Mahoney; B R Migeon
Journal: Clin Genet Date: 1980-12 Impact factor: 4.438

7. Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Authors: Sau W Cheung; Chad A Shaw; Wei Yu; Jiangzham Li; Zhishuo Ou; Ankita Patel; Svetlana A Yatsenko; Mitchell L Cooper; Patti Furman; Pawel Stankiewicz; Pawal Stankiewicz; James R Lupski; A Craig Chinault; Arthur L Beaudet
Journal: Genet Med Date: 2005 Jul-Aug Impact factor: 8.822

8. Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.

Authors: B G Kousseff; P Papenhausen; Y P Essig; M P Torres
Journal: J Med Genet Date: 1993-02 Impact factor: 6.318

9. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

Authors: Katarzyna Borg; Beata Nowakowska; Ewa Obersztyn; Sau Wai Cheung; Joanna Brycz-Witkowska; Lech Korniszewski; Tadeusz Mazurczak; Paweł Stankiewicz; Ewa Bocian
Journal: Am J Med Genet A Date: 2007-11-15 Impact factor: 2.802