Esther Geán

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

José A. Caparrós‐Martín, Edel Reytor, María Pacheco et al. · Human Molecular Genetics · 2012 · 109 citations · Full text

Cellular Physiology, Hh Pathway, Signaling Pathway +17

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Víctor Martínez‐Glez, Valeria Romanelli, María Ángeles Mori et al. · American Journal of Medical Genetics Part A · 2010 · 66 citations

Oral manifestations in Ellis-van Creveld syndrome: report of five cases.

A. Cahuana, Camila Palma, Wilber Gonzáles et al. · PubMed · 2004 · 65 citations

Cleft Lip, Oral Cavity, Ellis-van Creveld Syndrome +4

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

Carlos Padrós i Reig, Alicia Serra, Esther Geán et al. · Ophthalmic Genetics · 1995 · 57 citations

A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family

Carlos Padrós i Reig, N. Liecha, Jaume Antich et al. · Human Molecular Genetics · 1994 · 48 citations

Immunohematology, Genetics, Immunodeficiencies +20