Пожертвування 15 вересня 2024 – 1 жовтня 2024 Про збір коштів

Volume 90; Issue 2

The American Journal of Human Genetics

Volume 90; Issue 2

1

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J.

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.10 MB

english, 2012

2

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen-Snuijf, Sarina G.

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 256 KB

english, 2012

3

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Jennifer J. Johnston, Andrea L. Gropman, Julie C. Sapp, Jamie K. Teer, Jodie M. Martin, Cyndi F. Liu, Xuan Yuan, Zhaohui Ye, Linzhao Cheng, Robert A. Brodsky, Leslie G. Biesecker

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 637 KB

english, 2012

4

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lac

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 440 KB

english, 2012

5

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne, Delphine Bouteiller, Aurélie Méneret, Ségolène Billot, Sergiu Groppa, Stephan Klebe, Fanny Charbonnier-Beaupel, Jean-Christophe Corvol, Jean-Paul Saraiva, Norbert Brueggemann, Kaila

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.09 MB

english, 2012

6

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber,

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.34 MB

english, 2012

7

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf, Franz A. Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti-Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner, Isabella

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 444 KB

english, 2012

8

GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

Neal S. Peachey, Thomas A. Ray, Ralph Florijn, Lucy B. Rowe, Trijntje Sjoerdsma, Susana Contreras-Alcantara, Kenkichi Baba, Gianluca Tosini, Nikita Pozdeyev, P. Michael Iuvone, Pasano Bojang Jr., Jill

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 978 KB

english, 2012

9

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Al

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 828 KB

english, 2012

10

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

Diana C. Blaydon, Sarah L. Etheridge, Janet M. Risk, Hans-Christian Hennies, Laura J. Gay, Rebecca Carroll, Vincent Plagnol, Fiona E. McRonald, Howard P. Stevens, Nigel K. Spurr, D. Timothy Bishop, An

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.38 MB

english, 2012

11

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells

Lars A. Forsberg, Chiara Rasi, Hamid R. Razzaghian, Geeta Pakalapati, Lindsay Waite, Krista Stanton Thilbeault, Anna Ronowicz, Nathan E. Wineinger, Hemant K. Tiwari, Dorret Boomsma, Maxwell P. Westerm

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.99 MB

english, 2012

12

The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa

Verónica Fernandes, Farida Alshamali, Marco Alves, Marta D. Costa, Joana B. Pereira, Nuno M. Silva, Lotfi Cherni, Nourdin Harich, Viktor Cerny, Pedro Soares, Martin B. Richards, Luísa Pereira

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 598 KB

english, 2012

13

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians

Matthew C. Dulik, Sergey I. Zhadanov, Ludmila P. Osipova, Ayken Askapuli, Lydia Gau, Omer Gokcumen, Samara Rubinstein, Theodore G. Schurr

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 463 KB

english, 2012

14

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

Anne Goriely, Andrew O.M. Wilkie

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.30 MB

english, 2012

15

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martin

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 362 KB

english, 2012

16

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Tom R. Webb, Mar Matarin, Jessica C. Gardner, Dan Kelberman, Hala Hassan, Wei Ang, Michel Michaelides, Jonathan B. Ruddle, Craig E. Pennell, Seyhan Yazar, Chiea C. Khor, Tin Aung, Mahinda Yogarajah, A

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.25 MB

english, 2012

17

DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex

Shusuke Numata, Tianzhang Ye, Thomas M. Hyde, Xavier Guitart-Navarro, Ran Tao, Michael Wininger, Carlo Colantuoni, Daniel R. Weinberger, Joel E. Kleinman, Barbara K. Lipska

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.16 MB

english, 2012

18

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L. Douglas, Danielle C. Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-K

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 883 KB

english, 2012

19

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Melanie A. Jones, Bobby G. Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie-Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard Berry, Hudson H. Freeze, Madhuri R. Hegde

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 802 KB

english, 2012

20

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

Mait Metspalu, Irene Gallego Romero, Bayazit Yunusbayev, Gyaneshwer Chaubey, Chandana Basu Mallick, Georgi Hudjashov, Mari Nelis, Reedik Mägi, Ene Metspalu, Maido Remm, Ramasamy Pitchappan, Lalji Sing

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 33 KB

english, 2012

21

Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility

Dara G. Torgerson, Daniel Capurso, Rasika A. Mathias, Penelope E. Graves, Ryan D. Hernandez, Terri H. Beaty, Eugene R. Bleecker, Benjamin A. Raby, Deborah A. Meyers, Kathleen C. Barnes, Scott T. Weiss

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 202 KB

english, 2012

22

This Month in The Journal

Sara B. Cullinan

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 41 KB

english, 2012

23

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr,

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 30 KB

english, 2012

24

This Month in Genetics

Kathryn B. Garber

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 46 KB

english, 2012