Results 141 to 150 of about 11,312 (165)

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. [PDF]

Nat Commun
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte JD, Cole J, Shriver M, Marazita ML, Weinberg SM, Walsh S, Richmond S, Klein OD, Spritz RA, Peeters H, Hallgrímsson B, Claes P.   +16 more
europepmc   +1 more source

Bilateral humeral lengthening and deformity correction with hexapod external fixator in an achondroplastic patient: A case report. [PDF]

Int J Surg Case Rep
García López JM, García de la Blanca JC, Martí Ciruelos R, Núñez Ligero G.   +3 more
europepmc   +1 more source

Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias

, 2007
Cristina A. de Frutos, Sonia Vega, Miguel Manzanares, Juana M Flores, Hector Huertas, María Luisa Martínez‐Frías, M. Ángela Nieto   +6 more
openalex   +1 more source

Quantitative Measurements of Receptor Interactions in Mammalian Cells: Implications for Human Pathologies [PDF]

, 2010
Hristova, Kalina, Sarabipour, Sarvenaz
core   +1 more source

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia. [PDF]

JCEM Case Rep
Cebeci AN, Hebert S, Reutter H, Rompel O, Woelfle J.   +4 more
europepmc   +1 more source

Molecular studies of achondroplasia

, 2009
I. C. Verma, Risha Nahar, Renu Saxena, Sudha Kohli, Ratna Dua Puri   +4 more
openalex   +2 more sources

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. [PDF]

J Bone Miner Res
Rico-Llanos G, Spoutil F, Blahova E, Koudelka A, Prochazkova M, Czyrek A, Fafilek B, Prochazka J, Gonzalez Lopez M, Krivanek J, Sedlacek R, Krakow D, Nonaka Y, Nakamura Y, Krejci P.   +14 more
europepmc   +1 more source

Unusual Histopathological Challenges in Diagnosis of Giant Cell Tumor Cases Treated with Neoadjuvant Denosumab Chemotherapy: A Rare Case Report. [PDF]

J Orthop Case Rep
Mohapatro M, Rana R, Priyadarshini P, Sabyasachi S, Gouda K, Mohanty L.   +5 more
europepmc   +1 more source

Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution. [PDF]

Quant Imaging Med Surg
Waratani M, Hasegawa T, Shimura K, Tanaka Y, Ito F, Takahata A, Mori T.   +6 more
europepmc   +1 more source

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities. [PDF]

Eur J Pediatr
Soğukpınar M, Demir GÜ, Utine GE, Gönç EN, Özön ZA, Şimşek-Kiper PÖ.   +5 more
europepmc   +1 more source