Edna E. Mancilla - Concepedia

Author

Edna E. Mancilla

University of Pennsylvania

Also Known As

E. E. Mancilla, E.E. Mancilla, Edna E Mancilla, Edna E Mancilla V, Edna E. Mancilla, Edna Mancilla

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

University of Pennsylvania Children's Hospital of Philadelphia National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development University of Chile

About

Edna E. Mancilla is an author at University of Pennsylvania specializing in medicine, osteoporosis, and orthopaedics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	1.3K
2	Health Sciences	2	2	119
3	Natural Sciences	1	1	74
4	Public Health	1	1	32
5	Social Sciences	1	1	26

Edna E. Mancilla

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation Edith C. H. Friesema, Annette Grueters, Heike Biebermann, The Lancet Mendelian DisorderGenetic DisorderGeneticsThyroid DiseaseFragile X Spectrum	2004	697
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, The Lancet Diabetes & Endocrinology Disease CharacteristicsDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis	2020	107
Sporadic Hypoparathyroidism Caused by<i>de Novo</i>Gain- of-Function Mutations of the Ca<sup>2+</sup>-Sensing Receptor<sup>1</sup> Francesco De Luca, Kausik K. Ray, Edna E. Mancilla, The Journal of Clinical Endocrinology & Metabolism	1997	94
Retinoic Acid Is a Potent Regulator of Growth Plate Chondrogenesis Francesco De Luca, Jennifer A. Uyeda, Verónica Mericq, Endocrinology Retinoic Acid ReceptorVitamin A DeficiencyRetinoic AcidCell ProliferationCell Growth	2000	87
Effects of Fibroblast Growth Factor-2 on Longitudinal Bone Growth* Edna E. Mancilla, Francesco De Luca, Jennifer A. Uyeda, Endocrinology Fgf Receptor 3Cellular HypertrophyOsteoporosisOrthopaedic SurgeryRegenerative Medicine	1998	80
Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine Jurgen Jansen, Edith C. H. Friesema, Monique H. A. Kester, The Journal of Clinical Endocrinology & Metabolism	2007	77
Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11β-Hydroxylase Deficiency Deborah P. Merke, Toshihiro Tajima, Adhuna Chhabra, The Journal of Clinical Endocrinology & Metabolism	1998	75
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations W. Edward Visser, Jurgen Jansen, Edith C. H. Friesema, Human Mutation Molecular BiologyPathologyGene CharacterizationMolecular GeneticsDisease Gene Identification	2008	74
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Laura Adang, Omar Sherbini, Laura J. Ball, Molecular Genetics and Metabolism MedicineRheumatologySymptomatic CareConsensus Statement	2017	71
Impaired cell cycle regulation of the osteoblast‐related heterodimeric transcription factor Runx2‐Cbfβ in osteosarcoma cells Inga A. San Martin, Nelson Varela, Marcia Gaete, Journal of Cellular Physiology	2009	63

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