Literature DB >> 9326925

Sex-dependent rearrangements resulting in CMT1A and HNPP.

J Lopes, A Vandenberghe, S Tardieu, V Ionasescu, N Lévy, N Wood, N Tachi, P Bouche, P Latour, A Brice, E LeGuern.   

Abstract

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Year:  1997        PMID： 9326925     DOI： 10.1038/ng1097-136

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  17 in total

1.  Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Authors:  Christine J Shaw; Weimin Bi; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-10-09       Impact factor: 11.025

2.  De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.

Authors:  Charlene Sibbons; Joan K Morris; John A Crolla; Patricia A Jacobs; N Simon Thomas
Journal:  Eur J Hum Genet       Date:  2011-09-28       Impact factor: 4.246

3.  Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Authors:  Byung-Ok Choi; Nam Keun Kim; Sun Wha Park; Young Se Hyun; Hyeon Jeong Jeon; Jung Hee Hwang; Ki Wha Chung
Journal:  Neurogenetics       Date:  2010-12-31       Impact factor: 2.660

4.  Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Authors:  Lisa Neuhäusler; Anna Summerer; David N Cooper; Victor-F Mautner; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2018-05-05       Impact factor: 4.132

5.  Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Authors:  D Beysen; J Raes; B P Leroy; A Lucassen; J R W Yates; J Clayton-Smith; H Ilyina; S Sklower Brooks; S Christin-Maitre; M Fellous; J P Fryns; J R Kim; P Lapunzina; E Lemyre; F Meire; L M Messiaen; C Oley; M Splitt; J Thomson; Y Van de Peer; R A Veitia; A De Paepe; E De Baere
Journal:  Am J Hum Genet       Date:  2005-06-16       Impact factor: 11.025

6.  The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

Authors:  P Stankiewicz; S S Park; K Inoue; J R Lupski
Journal:  Genome Res       Date:  2001-07       Impact factor: 9.043

7.  Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

Authors:  C López Correa; H Brems; C Lázaro; P Marynen; E Legius
Journal:  Am J Hum Genet       Date:  2000-04-20       Impact factor: 11.025

8.  Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Authors:  Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Ko-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2003-04-09       Impact factor: 11.025

9.  Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Authors:  K Devriendt; G Matthijs; R Van Dael; M Gewillig; B Eyskens; H Hjalgrim; B Dolmer; J McGaughran; K Bröndum-Nielsen; P Marynen; J P Fryns; J R Vermeesch
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

10.  Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Authors:  L Edelmann; R K Pandita; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025
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