Literature DB >> 18854863

Common inversion polymorphisms and rare microdeletions at 15q13.3.

Andrew Makoff, Rachel Flomen.   

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Year:  2008        PMID： 18854863      PMCID： PMC2986055          DOI： 10.1038/ejhg.2008.189

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  7 in total

Review 1.  Genome architecture, rearrangements and genomic disorders.

Authors:  Paweł Stankiewicz; James R Lupski
Journal:  Trends Genet       Date:  2002-02       Impact factor: 11.639

2.  High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

Authors:  Nicholas J Wang; Dahai Liu; Alexander S Parokonny; N Carolyn Schanen
Journal:  Am J Hum Genet       Date:  2004-06-11       Impact factor: 11.025

3.  Rare chromosomal deletions and duplications increase risk of schizophrenia.

Authors: 
Journal:  Nature       Date:  2008-07-30       Impact factor: 49.962

4.  The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion.

Authors:  Rachel H Flomen; Angela F Davies; Marta Di Forti; Caterina La Cascia; Caroline Mackie-Ogilvie; Robin Murray; Andrew J Makoff
Journal:  Eur J Hum Genet       Date:  2008-06-11       Impact factor: 4.246

5.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Authors:  Andrew J Sharp; Heather C Mefford; Kelly Li; Carl Baker; Cindy Skinner; Roger E Stevenson; Richard J Schroer; Francesca Novara; Manuela De Gregori; Roberto Ciccone; Adam Broomer; Iris Casuga; Yu Wang; Chunlin Xiao; Catalin Barbacioru; Giorgio Gimelli; Bernardo Dalla Bernardina; Claudia Torniero; Roberto Giorda; Regina Regan; Victoria Murday; Sahar Mansour; Marco Fichera; Lucia Castiglia; Pinella Failla; Mario Ventura; Zhaoshi Jiang; Gregory M Cooper; Samantha J L Knight; Corrado Romano; Orsetta Zuffardi; Caifu Chen; Charles E Schwartz; Evan E Eichler
Journal:  Nat Genet       Date:  2008-02-17       Impact factor: 38.330

6.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

7.  Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.

Authors:  Andrew J Makoff; Rachel H Flomen
Journal:  Genome Biol       Date:  2007       Impact factor: 13.583
  7 in total
  6 in total

1.  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

2.  Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

Authors:  Agata Rozycka; Jolanta Dorszewska; Barbara Steinborn; Margarita Lianeri; Anna Winczewska-Wiktor; Aleksandra Sniezawska; Kamila Wisniewska; Pawel P Jagodzinski
Journal:  DNA Cell Biol       Date:  2013-09-11       Impact factor: 3.311

3.  Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.

Authors:  Jill A Rosenfeld; Lindsey E Stephens; Justine Coppinger; Blake C Ballif; Joe J Hoo; Beatrice N French; Valerie C Banks; Wendy E Smith; David Manchester; Anne Chun-Hui Tsai; Katrina Merrion; Roberto Mendoza-Londono; Lucie Dupuis; Roger Schultz; Beth Torchia; Trilochan Sahoo; Bassem Bejjani; David D Weaver; Lisa G Shaffer
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

4.  Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Authors:  Maria Tropeano; Joris Andrieux; Evangelos Vassos; David A Collier
Journal:  Eur J Hum Genet       Date:  2014-05-14       Impact factor: 4.246

5.  Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.

Authors:  Rachel H Flomen; Madiha Shaikh; Muriel Walshe; Katja Schulze; Mei-Hua Hall; Marco Picchioni; Fruhling Rijsdijk; Timothea Toulopoulou; Eugenia Kravariti; Robin M Murray; Philip Asherson; Andrew J Makoff; Elvira Bramon
Journal:  Eur J Hum Genet       Date:  2012-05-16       Impact factor: 4.246

6.  De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

Authors:  Elena Rossi; Roberto Giorda; Maria Clara Bonaglia; Stefania Di Candia; Elena Grechi; Adriana Franzese; Fiorenza Soli; Francesca Rivieri; Maria Grazia Patricelli; Donatella Saccilotto; Aldo Bonfante; Sabrina Giglio; Silvana Beri; Mariano Rocchi; Orsetta Zuffardi
Journal:  PLoS One       Date:  2012-06-14       Impact factor: 3.240
  6 in total

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