Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

David Sillence, K. K. Barlow, William G. Cole, +5

American Journal of Medical Genetics

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

David Sillence, K. K. Barlow, Ann Garber, +2

American Journal of Medical Genetics

GeneticsOsteogenesisType IiOsteoporosisOrthopaedic Surgery +17

Sleep and Estivation (Shallow Torpor): Continuous Processes of Energy Conservation

James M. Walker, Ann Garber, Ralph J. Berger, +1

Science

Mammalian PhysiologySocial SciencesSleep-related Breathing DisorderSleep MedicineMammalogy +19

Preaxial ray reduction defects as part of valproic acid embryofetopathy

Reuven Sharony, Ann Garber, David Viskochil, +5

Prenatal Diagnosis

Vpa ExposureFetal MedicineOrthopaedic SurgeryEmbryologyEmbryo Culture +15

Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19

Michael D. Briggs, I. Merete Rasmussen, James L. Weber, +5

Genomics

CytogeneticsGenetic DisorderGeneticsMolecular BiologyGenetic Linkage +7

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22

Deborah Krakow, Kent A. Reinker, Berkley R. Powell, +6

The American Journal of Human Genetics

Autoimmune DiseaseGenetic DisorderGeneticsPathologyDegenerative Disease +4

Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases

Wei-Tong Hsu, Dmitriy A. Shchepin, Rong Mao, +17

American Journal of Medical Genetics

Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank

Catherine A. McCarty, Ann Garber, Jonathan C. Reeser, +1

American Journal of Medical Genetics Part A

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, +11

Human Genetics

Musculoskeletal ResearchBone Morphogenic ProteinGeneticsLarge FamilyCandidate Gene Loci +11

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene

Michael D. Briggs, Hyejeong Choi, Matthew L. Warman, +13

Matrix Biology

Developmental BiologyGenetic DisorderMedicineGeneticsEdm 2 +6