Results : 1-25/113
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 1-2
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Geneticsl, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 3-5
Authors:
Duffy, David L.
Iles, Mark M.
Glass, Dan
Zhu, Gu
Montgomery, Grant W.
Citation: L. Duffy, David et al., IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 6-16
Authors:
Hunter-Zinck, Haley
Musharoff, Shaila
Salit, Jacqueline
Al-Ali, Khalid A
Clark, Andrew G.
Citation: Hunter-zinck, Haley et al., Population Genetic Structure of the People of Qatar, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 17-25
Authors:
Gardner, Jessica C.
Webb, Tom R.
Kanuga, Naheed
Robson, Anthony G.
Hardcastle, Alison J.
Citation: C. Gardner, Jessica et al., X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 26-39
Authors:
Guernsey, Duane L.
Jiang, Haiyan
Hussin, Julie
Arnold, Marc
Samuels, Mark E.
Citation: L. Guernsey, Duane et al., Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 40-51
Authors:
Riley, Lisa G.
Cooper, Sandra
Hickey, Peter
Rudinger-Thirion, Joëlle
Christodoulou, John
Citation: G. Riley, Lisa et al., Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia.MLASA Syndrome, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 52-59
Authors:
Emison, Eileen Sproat
Garcia-Barcelo, Merce
Grice, Elizabeth A.
Lantieri, Francesca
Chakravarti, Aravinda
Citation: Emison, Eileen Sproat et al., Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 60-74
Authors:
Mitsui, Jun
Takahashi, Yuji
Goto, Jun
Tomiyama, Hiroyuki
Tsuji, Shoji
Citation: Mitsui, Jun et al., Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 75-89
Authors:
Walsh, Tom
Shahin, Hashem
Elkan-Miller, Tal
Lee, Ming K.
Kanaan, Moien
Citation: Walsh, Tom et al., Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 90-94
Authors:
Isidor, Bertrand
Pichon, Olivier
Redon, Richard
Day-Salvatore, Debra
Le Caignec, Cédric
Citation: Isidor, Bertrand et al., Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 95-100
Authors:
Walsh, Tom
Pierce, Sarah B.
Lenz, Danielle R.
Brownstein, Zippora
Avraham, Karen B.
Citation: Walsh, Tom et al., Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 101-109
Authors:
Lapunzina, Pablo
Aglan, Mona
Temtamy, Samia
Caparrós-Martín, José A.
Ruiz-Perez, Victor L.
Citation: Lapunzina, Pablo et al., Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 110-114
Authors:
Antonicka, Hana
Østergaard, Elsebet
Sasarman, Florin
Weraarpachai, Woranontee
Shoubridge, Eric A.
Citation: Antonicka, Hana et al., Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 115-122
Authors:
Pluzhnikov, Anna
Below, Jennifer E.
Konkashbaev, Anuar
Tikhomirov, Anna
Cox, Nancy J.
Citation: Pluzhnikov, Anna et al., Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 123-128
Authors:
Rodríguez-Santiago, Benjamín
Malats, Núria
Rothman, Nathaniel
Armengol, Lluís
Pérez-Jurado, Luis A
Citation: Rodríguez-santiago, Benjamín et al., Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 129-138
Authors:
Liu, Jimmy Z.
Mcrae, Allan F.
Nyholt, Dale R
Medland, Sarah E.
Macgregor, Stuart
Citation: Z. Liu, Jimmy et al., A Versatile Gene-Based Test for Genome-wide Association Studies, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 139-145
Authors:
Sun, Yu
Almomani, Rowida
Aten, Emmelien
Celli, Jacopo
Breuning, Martijn H.
Citation: Sun, Yu et al., Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 146-153
Authors:
Alvarado, David M
Aferol, Hyuliya
McCall, Kevin
Huang, Jason B
Gurnett, Christina A.
Citation: M. Alvarado, David et al., Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 154-160
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 163-164
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 165-167
Authors:
Vander Weele, Tyler
Citation: Vander Weele, Tyler, Genetic Self Knowledge and the Future of Epidemiologic Confounding Tyler Vander Weele Pages 168-172 View PDF Articles, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 168-172
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Authors:
Whibley, Annabel C
Plagnol, Vincent
Tarpey, Patrick S.
Abidi, Fatima
Raymond, F. Lucy
Citation: C. Whibley, Annabel et al., Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 173-188
Authors:
Malan, Valérie
Rajan, Diana
Thomas, Sophie
Shaw, Adam C.
Cormier-Daire, Valérie
Citation: Malan, Valérie et al., Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 189-198
Authors:
Bandah-Rozenfeld, Dikla
Collin, Rob W.J.
Banin, Eyal
Ingeborgh van den Born, L.
den Hollander, Anneke I.
Citation: Bandah-rozenfeld, Dikla et al., Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 199-208