Works in Annals of the New York Academy of Sciences, 2010, Vol 1214, Issue 1

Results: 18

Genetics and epigenetics of the X chromosome.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. E18, doi. 10.1111/j.1749-6632.2010.05943.x

By:

Morey, Céline;
Avner, Philip

Publication type:

Article

Mendelian genetics of male infertility.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. E1, doi. 10.1111/j.1749-6632.2010.05917.x

By:

Hwang, Kathleen;
Yatsenko, Alexander N.;
Jorgez, Carolina J.;
Mukherjee, Sarmistha;
Nalam, Roopa Lata;
Matzuk, Martin M.;
Lamb, Dolores J.

Publication type:

Article

Retraction.

Published in:: Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 213, doi. 10.1111/j.1749-6632.2010.05916.x
Publication type:: Article

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 99, doi. 10.1111/j.1749-6632.2010.05790.x

By:

Tartaglia, Marco;
Gelb, Bruce D.

Publication type:

Article

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 83, doi. 10.1111/j.1749-6632.2010.05817.x

By:

Benoit, Geneviève;
Machuca, Eduardo;
Heidet, Laurence;
Antignac, Corinne

Publication type:

Article

Hearing loss: a common disorder caused by many rare alleles.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 168, doi. 10.1111/j.1749-6632.2010.05868.x

By:

Raviv, Dorith;
Dror, Amiel A.;
Avraham, Karen B.

Publication type:

Article

Modifier genes in Mendelian disorders: the example of cystic fibrosis.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 57, doi. 10.1111/j.1749-6632.2010.05879.x

By:

Cutting, Garry R.

Publication type:

Article

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 18, doi. 10.1111/j.1749-6632.2010.05834.x

By:

Alcaïs, Alexandre;
Quintana‐Murci, Lluis;
Thaler, David S.;
Schurr, Erwin;
Abel, Laurent;
Casanova, Jean‐Laurent

Publication type:

Article

The role played by natural selection on Mendelian traits in humans.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 1, doi. 10.1111/j.1749-6632.2010.05856.x

By:

Quintana‐Murci, Lluis;
Barreiro, Luis B.

Publication type:

Article

Disruption of long-distance highly conserved noncoding elements in neurocristopathies.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 34, doi. 10.1111/j.1749-6632.2010.05878.x

By:

Amiel, Jeanne;
Benko, Sabina;
Gordon, Christopher T.;
Lyonnet, Stanislas

Publication type:

Article

Congenital disorders of glycosylation.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 190, doi. 10.1111/j.1749-6632.2010.05840.x

By:

Jaeken, Jaak

Publication type:

Article

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 180, doi. 10.1111/j.1749-6632.2010.05880.x

By:

Blakemore, Alexandra I. F.;
Froguel, Philippe

Publication type:

Article

Genetic regulation of human brain development: lessons from Mendelian diseases.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 156, doi. 10.1111/j.1749-6632.2010.05819.x

By:

Dixon‐Salazar, Tracy J.;
Gleeson, Joseph G.

Publication type:

Article

Mendelian genetics of rare-and not so rare-cancers.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 70, doi. 10.1111/j.1749-6632.2010.05789.x

By:

Eng, Charis

Publication type:

Article

Modifier genes in Mendelian disorders: the example of hemoglobin disorders.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 47, doi. 10.1111/j.1749-6632.2010.05821.x

By:

Sankaran, Vijay G.;
Lettre, Guillaume;
Orkin, Stuart H.;
Hirschhorn, Joel N.

Publication type:

Article

Impact of Mendelian inheritance in cardiovascular disease.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 122, doi. 10.1111/j.1749-6632.2010.05791.x

By:

McBride, Kim L.;
Garg, Vidu

Publication type:

Article

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 199, doi. 10.1111/j.1749-6632.2010.05836.x

By:

Aartsma‐Rus, Annemieke;
den Dunnen, Johan T.;
van Ommen, Gert‐Jan B

Publication type:

Article

Clues to immune tolerance: the monogenic autoimmune syndromes.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 138, doi. 10.1111/j.1749-6632.2010.05818.x

By:

Waterfield, Michael;
Anderson, Mark S.

Publication type:

Article