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Haploinsufficiency

Probing the Production of Amidated Peptides following Genetic and Dietary Copper Manipulations

Ping Yin, Danielle Bousquet-Moore, [ ... ], Jonathan V. Sweedler

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux, Carla Ciccone, [ ... ], Marjan Huizing

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Jérôme Bouligand, Brigitte Delemer, [ ... ], Marc Lombès

NPM1 Deletion Is Associated with Gross Chromosomal Rearrangements in Leukemia

Roberta La Starza, Caterina Matteucci, [ ... ], Cristina Mecucci

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Jill A. Rosenfeld, Blake C. Ballif, [ ... ], Lisa G. Shaffer

Dll1 Haploinsufficiency in Adult Mice Leads to a Complex Phenotype Affecting Metabolic and Immunological Processes

Isabel Rubio-Aliaga, Gerhard K. H. Przemeck, [ ... ], Martin Hrabé de Angelis

Lef1 Haploinsufficient Mice Display a Low Turnover and Low Bone Mass Phenotype in a Gender- and Age-Specific Manner

Tommy Noh, Yankel Gabet, [ ... ], Baruch Frenkel

Integrated Genomic Analysis Implicates Haploinsufficiency of Multiple Chromosome 5q31.2 Genes in De Novo Myelodysplastic Syndromes Pathogenesis

Timothy A. Graubert, Michelle A. Payton, [ ... ], Matthew J. Walter

Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells

Achia Urbach, Nissim Benvenisty

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