Literature DB >> 15805160

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.

S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski.   

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Year:  2005        PMID： 15805160      PMCID： PMC1736036          DOI： 10.1136/jmg.2004.028258

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.

Authors:  Alexander N Yatsenko; Svetlana A Yatsenko; John W Weedin; Amy E Lawrence; Ankita Patel; Sandra Peacock; Martin M Matzuk; Dolores J Lamb; Sau Wai Cheung; Larry I Lipshultz
Journal:  J Urol       Date:  2010-02-20       Impact factor: 7.450

2.  Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Authors:  Svetlana A Yatsenko; Ellen K Brundage; Erin K Roney; Sau Wai Cheung; A Craig Chinault; James R Lupski
Journal:  Hum Mol Genet       Date:  2009-03-17       Impact factor: 6.150

3.  Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.

Authors:  Hannah C Cheung; Svetlana A Yatsenko; Meena Kadapakkam; Hélène Legay; Jack Su; James R Lupski; Sharon E Plon
Journal:  Pediatr Blood Cancer       Date:  2011-06-16       Impact factor: 3.167

4.  9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Authors:  Maria Teresa Bonati; Chiara Castronovo; Alessandra Sironi; Dario Zimbalatti; Ilaria Bestetti; Milena Crippa; Antonio Novelli; Sara Loddo; Maria Lisa Dentici; Juliet Taylor; Françoise Devillard; Lidia Larizza; Palma Finelli
Journal:  Neurogenetics       Date:  2019-06-17       Impact factor: 2.660

5.  Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Authors:  Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2006-06-13       Impact factor: 11.025

6.  Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Authors:  T Kleefstra; M Smidt; M J G Banning; A R Oudakker; H Van Esch; A P M de Brouwer; W Nillesen; E A Sistermans; B C J Hamel; D de Bruijn; J-P Fryns; H G Yntema; H G Brunner; B B A de Vries; H van Bokhoven
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318

7.  Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Authors:  Svetlana A Yatsenko; Patricia Hixson; Erin K Roney; Daryl A Scott; Christian P Schaaf; Yu-tze Ng; Robbin Palmer; Richard B Fisher; Ankita Patel; Sau Wai Cheung; James R Lupski
Journal:  Hum Genet       Date:  2012-08-14       Impact factor: 4.132

Review 8.  Genetic architecture of reciprocal CNVs.

Authors:  Christelle Golzio; Nicholas Katsanis
Journal:  Curr Opin Genet Dev       Date:  2013-06-05       Impact factor: 5.578

9.  Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Authors:  David J Wu; Nicholas J Wang; Jennette Driscoll; Naghmeh Dorrani; Dahai Liu; Marian Sigman; N Carolyn Schanen
Journal:  Mol Cytogenet       Date:  2009-12-18       Impact factor: 2.009

10.  Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Authors:  Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Journal:  Prenat Diagn       Date:  2009-01       Impact factor: 3.050
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