Literature DB >> 9246004

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

R Carrozzo, E Rossi, S L Christian, K Kittikamron, C Livieri, A Corrias, L Pucci, A Fois, P Simi, L Bosio, L Beccaria, O Zuffardi, D H Ledbetter.   

Abstract

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Year:  1997        PMID： 9246004      PMCID： PMC1715856          DOI： 10.1086/513907

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  17 in total

1.  Molecular genetics of inherited variation in human color vision.

Authors:  J Nathans; T P Piantanida; R L Eddy; T B Shows; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728

2.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

3.  Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.

Authors:  B Huang; J A Crolla; S L Christian; M E Wolf-Ledbetter; M E Macha; P N Papenhausen; D H Ledbetter
Journal:  Hum Genet       Date:  1997-01       Impact factor: 4.132

Review 4.  Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Authors:  J Clayton-Smith; T Webb; X J Cheng; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.

Authors:  D Lakich; H H Kazazian; S E Antonarakis; J Gitschier
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

6.  Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.

Authors:  S Marcus; D Hellgren; B Lambert; S P Fällström; J Wahlström
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

Review 7.  Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview.

Authors:  J H Knoll; J Wagstaff; M Lalande
Journal:  Am J Med Genet       Date:  1993-04-01

8.  Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Authors:  L Pentao; C A Wise; A C Chinault; P I Patel; J R Lupski
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

9.  Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Authors:  A Kuwano; A Mutirangura; B Dittrich; K Buiting; B Horsthemke; S Saitoh; N Niikawa; S A Ledbetter; F Greenberg; A C Chinault
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150

10.  Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Authors:  P F Chance; N Abbas; M W Lensch; L Pentao; B B Roa; P I Patel; J R Lupski
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  13 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.  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Authors:  Przemyslaw Szafranski; Christian P Schaaf; Richard E Person; Ian B Gibson; Zhilian Xia; Sangeetha Mahadevan; Joanna Wiszniewska; Carlos A Bacino; Seema Lalani; Lorraine Potocki; Sung-Hae Kang; Ankita Patel; Sau Wai Cheung; Frank J Probst; Brett H Graham; Marwan Shinawi; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

3.  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

4.  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

5.  GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology.

Authors:  A Corrias; J Bellone; L Beccaria; L Bosio; G Trifirò; C Livieri; L Ragusa; A Salvatoni; M Andreo; P Ciampalini; G Tonini; A Crinò
Journal:  J Endocrinol Invest       Date:  2000-02       Impact factor: 4.256

6.  Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

Authors:  J M Amos-Landgraf; Y Ji; W Gottlieb; T Depinet; A E Wandstrat; S B Cassidy; D J Driscoll; P K Rogan; S Schwartz; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

Review 7.  Genome destabilization by homologous recombination in the germ line.

Authors:  Mariko Sasaki; Julian Lange; Scott Keeney
Journal:  Nat Rev Mol Cell Biol       Date:  2010-02-18       Impact factor: 94.444

8.  Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Authors:  Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2003-12-17       Impact factor: 6.150

Review 9.  Angelman syndrome - insights into a rare neurogenetic disorder.

Authors:  Karin Buiting; Charles Williams; Bernhard Horsthemke
Journal:  Nat Rev Neurol       Date:  2016-09-12       Impact factor: 42.937

Review 10.  Duplication hotspots, rare genomic disorders, and common disease.

Authors:  Heather C Mefford; Evan E Eichler
Journal:  Curr Opin Genet Dev       Date:  2009-05-22       Impact factor: 5.578
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