BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

Stephan A. Hahn, B. Greenhalf, I. Ellis, +13

JNCI Journal of the National Cancer Institute

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch, +23

Nature Genetics

Protein Quality ControlAutoimmune DiseaseGeneticsPathologyJohanson-blizzard Syndrome +5

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

Vera M. Kalscheuer, Edwin C.M. Mariman, Marga Schepens, +2

Nature Genetics

Signal TransductionGrowth HormoneHuman GrowthGeneticsDiabetes +6

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

Bárbara Fritz, Christian Hallermann, J. Olert, +7

European Journal of Human Genetics

AbortionCytogeneticsGeneticsComparative Genomic HybridisationGynecology +9

Down's syndrome in the male. Reproductive pathology and meiotic studies

R. Johannisson, A. Gropp, Heinz Winking, +3

Human Genetics

Down SyndromeInfertilityAndrologyFertilityGenetics +10

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, +61

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderBrain DevelopmentGenetic DisorderGenetics +9

Prenatal diagnosis of the Pallister‐Killian mosaic aneuploidy syndrome by CVS

Jürgen Bernert, Iris Bartels, Gudrun Gatz, +6

American Journal of Medical Genetics

Microdeletion 22q11 in complex cardiovascular malformations

Yasmin Mehraein, C.-F. Wippermann, Ina Michel‐Behnke, +7

Human Genetics

Cardiovascular DiseasePathologyVascular BiologyCongenital Heart DefectMedicine +4

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

Bárbara Fritz, Mücevher Aslan, Vera M. Kalscheuer, +4

European Journal of Human Genetics

FertilityAbortion5Th Gestational WeekMaternal ComplicationReproductive Health +13

Quantitative Histology of Human Fetal Testes in Chromosomal Disease

Wiltrud Coerdt, Helga Rehder, Irene Gausmann, +2

Pediatric Pathology