Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features

Erich Roessler, Yangzhu Du, José L. Mullor, +7

Proceedings of the National Academy of Sciences

GeneticsMolecular GeneticsDisease Gene IdentificationPituitary AnomaliesMendelian Disorder +16

The Tabby phenotype is caused by mutation in a mouse homologue of the<i>EDA</i>gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Anand K. Srivastava, Johanna Pispa, Andrew J. Hartung, +10

Proceedings of the National Academy of Sciences

Variation in Resistin Gene Promoter Not Associated With Polycystic Ovary Syndrome

Margrit Urbanek, Yangzhu Du, Kaisa Silander, +6

Diabetes

GeneticsHuman PolymorphismGynecologyPolycystic Ovary SyndromeResistin Gene +18

A longitudinal analysis of SLE patients treated with rituximab (anti-CD20): Factors associated with B lymphocyte recovery

Jennifer A. Sutter, Jennifer Kwan‐Morley, Jon Dunham, +5

Clinical Immunology

Clinical ImmunologyHematological MalignancyLongitudinal AnalysisAutoimmune DiseaseSle Patients +9

The concentration of fetal red blood cells in first-trimester pregnant women undergoing uterine aspiration is below the calculated threshold for Rh sensitization

Sarah Horvath, Patricia Tsao, Zhen-Yu Huang, +5

Contraception

MedicinePhysiologyFetal MedicineGynecologyPregnancy +9

Regional Localization of 725 Human Chromosome 7-Specific Yeast Artificial Chromosome Clones

Jürgen Kunz, Stephen W. Scherer, Ingrid Klawitz, +7

Genomics

ChromatinRegional LocalizationChromosome DynamicsGeneticsYeast +7

Circulating B cells in type 1 diabetics exhibit fewer maturation-associated phenotypes

Patrick C. Hanley, Jennifer A. Sutter, Noah Goodman, +6

Clinical Immunology

The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly

Erich Roessler, Yangzhu Du, Andrei Glinka, +3

Cytogenetic and Genome Research

Exogenous and Endogenous TLR Ligands Activate Anti-Chromatin and Polyreactive B Cells

Michele L. Fields, Michele H. Metzgar, Brian D. Hondowicz, +8

The Journal of Immunology

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Guy Helman, Asako Takanohashi, Tracy L. Hagemann, +15

Human Mutation

Alexander Disease ResultsTranscriptional RegulationUncharacterized Gfap IsoformAberrant OverexpressionGenetic Disorder +12