GENETICS Fish heads and human disease

被引：2

作者：

Malhotra, Dheeraj ^{[1
,2
]}

Sebat, Jonathan ^{[1
,2
,3
,4
]}

机构：

[1] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA

[2] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA

[3] Univ Calif San Diego, Inst Genom Med, San Diego, CA 92103 USA

[4] Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, San Diego, CA 92103 USA

来源：

NATURE | 2012年 / 485卷 / 7398期

关键词：

CHROMOSOME; 16P11.2; PHENOTYPES; DELETIONS; PROTEIN; OBESITY; AUTISM; DOSAGE;

D O I：

10.1038/485318a

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

[No abstract available]

引用

页码：318 / 319

页数：2

共 16 条

[1] Large, rare chromosomal deletions associated with severe early-onset obesity [J].

Bochukova, Elena G. ;

Huang, Ni ;

Keogh, Julia ;

Henning, Elana ;

Purmann, Carolin ;

Blaszczyk, Kasia ;

Saeed, Sadia ;

Hamilton-Shield, Julian ;

Clayton-Smith, Jill ;

O'Rahilly, Stephen ;

Hurles, Matthew E. ;

Farooqi, I. Sadaf .

NATURE, 2010, 463 (7281) :666-670

[2] Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes [J].

Cohen, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 117C (01) :49-56

[3] A copy number variation morbidity map of developmental delay [J].

Cooper, Gregory M. ;

Coe, Bradley P. ;

Girirajan, Santhosh ;

Rosenfeld, Jill A. ;

Vu, Tiffany H. ;

Baker, Carl ;

Williams, Charles ;

Stalker, Heather ;

Hamid, Rizwan ;

Hannig, Vickie ;

Abdel-Hamid, Hoda ;

Bader, Patricia ;

McCracken, Elizabeth ;

Niyazov, Dmitriy ;

Leppig, Kathleen ;

Thiese, Heidi ;

Hummel, Marybeth ;

Alexander, Nora ;

Gorski, Jerome ;

Kussmann, Jennifer ;

Shashi, Vandana ;

Johnson, Krys ;

Rehder, Catherine ;

Ballif, Blake C. ;

Shaffer, Lisa G. ;

Eichler, Evan E. .

NATURE GENETICS, 2011, 43 (09) :838-U44

[4] Narrowing the Critical Deletion Region for Autism Spectrum Disorders on 16p11.2 [J].

Crepel, An ;

Steyaert, Jean ;

De la Marche, Wouter ;

De Wolf, Veerle ;

Fryns, Jean-Pierre ;

Noens, Ilse ;

Devriendt, Koen ;

Peeters, Hilde .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (02) :243-245

[5] KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant [J].

Golzio, Christelle ;

Willer, Jason ;

Talkowski, Michael E. ;

Oh, Edwin C. ;

Taniguchi, Yu ;

Jacquemont, Sebastien ;

Reymond, Alexandre ;

Sun, Mei ;

Sawa, Akira ;

Gusella, James F. ;

Kamiya, Atsushi ;

Beckmann, Jacques S. ;

Katsanis, Nicholas .

NATURE, 2012, 485 (7398) :363-U111

[6] A tumor necrosis factor α- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase δ and proliferating cell nuclear antigen [J].

He, H ;

Tan, CK ;

Downey, KM ;

So, AG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (21) :11979-11984

[7] Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism [J].

Horev, Guy ;

Ellegood, Jacob ;

Lerch, Jason P. ;

Son, Young-Eun E. ;

Muthuswamy, Lakshmi ;

Vogel, Hannes ;

Krieger, Abba M. ;

Buja, Andreas ;

Henkelman, R. Mark ;

Wigler, Michael ;

Mills, Alea A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (41) :17076-17081

[8] Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus [J].

Jacquemont, Sebastien ;

Reymond, Alexandre ;

Zufferey, Flore ;

Harewood, Louise ;

Walters, Robin G. ;

Kutalik, Zoltan ;

Martinet, Danielle ;

Shen, Yiping ;

Valsesia, Armand ;

Beckmann, Noam D. ;

Thorleifsson, Gudmar ;

Belfiore, Marco ;

Bouquillon, Sonia ;

Campion, Dominique ;

de Leeuw, Nicole ;

de Vries, Bert B. A. ;

Esko, Tonu ;

Fernandez, Bridget A. ;

Fernandez-Aranda, Fernando ;

Manuel Fernandez-Real, Jose ;

Gratacos, Monica ;

Guilmatre, Audrey ;

Hoyer, Juliane ;

Jarvelin, Marjo-Riitta ;

Kooy, R. Frank ;

Kurg, Ants ;

Le Caignec, Cedric ;

Maennik, Katrin ;

Platt, Orah S. ;

Sanlaville, Damien ;

Van Haelst, Mieke M. ;

Villatoro Gomez, Sergi ;

Walha, Faida ;

Wu, Bai-lin ;

Yu, Yongguo ;

Aboura, Azzedine ;

Addor, Marie-Claude ;

Alembik, Yves ;

Antonarakis, Stylianos E. ;

Arveiler, Benoit ;

Barth, Magalie ;

Bednarek, Nathalie ;

Bena, Frederique ;

Bergmann, Sven ;

Beri, Mylene ;

Bernardini, Laura ;

Blaumeiser, Bettina ;

Bonneau, Dominique ;

Bottani, Armand ;

Boute, Odile .

NATURE, 2011, 478 (7367) :97-U111

[9] An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities [J].

Kaminsky, Erin B. ;

Kaul, Vineith ;

Paschall, Justin ;

Church, Deanna M. ;

Bunke, Brian ;

Kunig, Dawn ;

Moreno-De-Luca, Daniel ;

Moreno-De-Luca, Andres ;

Mulle, Jennifer G. ;

Warren, Stephen T. ;

Richard, Gabriele ;

Compton, John G. ;

Fuller, Amy E. ;

Gliem, Troy J. ;

Huang, Shuwen ;

Collinson, Morag N. ;

Beal, Sarah J. ;

Ackley, Todd ;

Pickering, Diane L. ;

Golden, Denae M. ;

Aston, Emily ;

Whitby, Heidi ;

Shetty, Shashirekha ;

Rossi, Michael R. ;

Rudd, M. Katharine ;

South, Sarah T. ;

Brothman, Arthur R. ;

Sanger, Warren G. ;

Iyer, Ramaswamy K. ;

Crolla, John A. ;

Thorland, Erik C. ;

Aradhya, Swaroop ;

Ledbetter, David H. ;

Martin, Christa L. .

GENETICS IN MEDICINE, 2011, 13 (09) :777-784

[10] CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics [J].

Malhotra, Dheeraj ;

Sebat, Jonathan .

CELL, 2012, 148 (06) :1223-1241

← 1 2 →