Volume 2; Issue 4

Molecular Genetics & Genomic Medicine

Volume 2; Issue 4

1

Re-definin G A ddi C CH3 T ion: genomics and epigenomics on substance use disorders

Rutter, Joni L., Volkow, Nora D.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 434 KB

english, 2014

2

Genetics and genomics in Brazil: a promising future

Passos-Bueno, Maria Rita, Bertola, Debora, Horovitz, Dafne Dain Gandelman, de Faria Ferraz, Victor Evangelista, Brito, Luciano Abreu

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 756 KB

english, 2014

3

A-T Winnipeg : Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

Nakamura, Kotoka, Fike, Francesca, Haghayegh, Sara, Saunders-Pullman, Rachel, Dawson, Angelika J., Dörk, Thilo, Gatti, Richard A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

4

Issue Information

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 3.19 MB

english, 2014

5

Haploinsufficiency of insulin gene enhancer protein 1 ( ISL1 ) is associated with d-transposition of the great arteries

Osoegawa, Kazutoyo, Schultz, Kathleen, Yun, Kenneth, Mohammed, Nebil, Shaw, Gary M., Lammer, Edward J.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 896 KB

english, 2014

6

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

Saposnik, Béatrice, Binard, Sylvie, Fenneteau, Odile, Nurden, Alan, Nurden, Paquita, Hurtaud-Roux, Marie-Françoise, Schlegel, Nicole

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.77 MB

english, 2014

7

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5 α -reductase type-2 ( SRD5A2 ) gene

Chávez, Bertha, Ramos, Luis, Gómez, Rita, Vilchis, Felipe

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 168 KB

english, 2014

8

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Dominguez-Valentin, Mev, Drost, Mark, Therkildsen, Christina, Rambech, Eva, Ehrencrona, Hans, Angleys, Maria, Lau Hansen, Thomas, de Wind, Niels, Nilbert, Mef, Juel Rasmussen, Lene

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 417 KB

english, 2014

9

Association of the c.385C>A (p.Pro129Thr) polymorphism of the fatty acid amide hydrolase gene with anorexia nervosa in the Japanese population

Ando, Tetsuya, Tamura, Naho, Mera, Takashi, Morita, Chihiro, Takei, Michiko, Nakamoto, Chiemi, Koide, Masanori, Hotta, Mari, Naruo, Tetsuro, Kawai, Keisuke, Nakahara, Toshihiro, Yamaguchi, Chikara, Na

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

10

Telomere length, family history, and paternal age in schizophrenia

Malaspina, Dolores, Dracxler, Roberta, Walsh-Messinger, Julie, Harlap, Susan, Goetz, Raymond R., Keefe, David, Perrin, Mary C.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 468 KB

english, 2014

11

Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions

Bowles, Neil E., Arrington, Cammon B., Hirono, Keiichi, Nakamura, Tsuneyuki, Ngo, Long, Wee, Yin Shen, Ichida, Fukiko, Weis, John H.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 476 KB

english, 2014

12

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Handley, Mark T., Mégarbané, André, Meynert, Alison M., Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S., Jackson, Ian J., Aligianis, Irene A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 824 KB

english, 2014