Literature DB >> 14757861

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation.

N Harada, E Hatchwell, N Okamoto, M Tsukahara, K Kurosawa, H Kawame, T Kondoh, H Ohashi, R Tsukino, Y Kondoh, O Shimokawa, T Ida, T Nagai, Y Fukushima, K Yoshiura, N Niikawa, N Matsumoto.   

Abstract

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Year:  2004        PMID： 14757861      PMCID： PMC1735677          DOI： 10.1136/jmg.2003.014639

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


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  8 in total

1.  Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.

Authors:  Shoko Miura; Kiyonori Miura; Hideaki Masuzaki; Noriko Miyake; Koh-Ichiro Yoshiura; Nadiya Sosonkina; Naoki Harada; Osamu Shimokawa; Daisuke Nakayama; Shuichiro Yoshimura; Naomichi Matsumoto; Norio Niikawa; Tadayuki Ishimaru
Journal:  J Hum Genet       Date:  2006-04-19       Impact factor: 3.172

Review 2.  Long-read sequencing for rare human genetic diseases.

Authors:  Satomi Mitsuhashi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2019-09-27       Impact factor: 3.172

3.  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

4.  Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Authors:  C Le Caignec; M Boceno; P Saugier-Veber; S Jacquemont; M Joubert; A David; T Frebourg; J M Rival
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 5.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

6.  Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Authors:  Lina Shao; Chad A Shaw; Xin-Yan Lu; Trilochan Sahoo; Carlos A Bacino; Seema R Lalani; Pawel Stankiewicz; Svetlana A Yatsenko; Yinfeng Li; Sarah Neill; Amber N Pursley; A Craig Chinault; Ankita Patel; Arthur L Beaudet; James R Lupski; Sau W Cheung
Journal:  Am J Med Genet A       Date:  2008-09-01       Impact factor: 2.802

7.  A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.

Authors:  Naoki Harada; Remco Visser; Angie Dawson; Makoto Fukamachi; Mie Iwakoshi; Nobuhiko Okamoto; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2004-07-16       Impact factor: 3.172

8.  A pipeline for complete characterization of complex germline rearrangements from long DNA reads.

Authors:  Satomi Mitsuhashi; Sachiko Ohori; Kazutaka Katoh; Martin C Frith; Naomichi Matsumoto
Journal:  Genome Med       Date:  2020-07-31       Impact factor: 11.117
  8 in total

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