Results 51 to 60 of about 1,854 (192)

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea

Revista Chilena de Obstetricia y Ginecología, 2012
El síndrome otopalatodigital tipo 2 (OPD2), es una rara entidad con herencia recesiva ligada al cromosoma X, letal, caracterizada por facies anormales con hipoplasia centrofacial, hipertelorismo ocular, paladar hendido, talla baja, huesos largos curvos ...
Wilmar Saldarriaga, Albaro José Nieto Calvache, Juan Carlos Quintero, Harry Pachajoa, Carolina Isaza   +4 more
doaj  

Surgical treatment of hand deformities in multiple enchondromatosis: a case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Multiple enchondromatosis (Ollier’s disease) is a rare disease characterized by widespread enchondromas. In general, the short tubular bones of the hand are involved, with progressive lesions resulting in cosmetic problems and functional deformities ...
Bulent Erol, Cihangir Tetik, Evrim Sirin, Baris Kocaoglu, Murat Bezer   +4 more
doaj  

The Functions of the Multiproduct and Rapidly Evolving \u3cem\u3edec-1\u3c/em\u3e Eggshell Gene Are Conserved Between Evolutionarily Distant Species of Drosophila [PDF]

, 2001
The Drosophila dec-1 gene encodes multiple proteins that are required for female fertility and proper eggshell morphogenesis. Genetic and immunolocalization data suggest that the different DEC-1 proteins are functionally distinct.
Badciong, James Charles, Otto, Jeffrey Michael, Waring, Gail L.   +2 more
core   +1 more source

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.
Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen   +6 more
wiley   +1 more source

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Yassmine Akkari   +13 more
wiley   +1 more source

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia

Revista de la Facultad de Medicina, 2013
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands,
Tatiana Pineda, Antonio Rossi, Luisa Bonafe, Andrea Superti-Furga, Harvy M. Velasco   +4 more
doaj  

Correlation between prenatal ultrasound and postmortem findings in 1029 fetuses following termination of pregnancy [PDF]

, 2016
Objective: A prenatal ultrasound examination and a postmortem examination provide the basis for correct diagnosis in fetuses terminated due to congenital anomalies. The aim of this study was to correlate fetal anomalies detected by ultrasound examination
Blaas, Harm-Gerd Karl, Eik-Nes, Sturla, Struksnæs, Camilla, Vogt, Christina   +3 more
core   +1 more source

The fibroblast growth factor receptors in breast cancer: From oncogenesis to better treatments [PDF]

, 2020
Breast cancer (BC) is the most frequent form of malignancy and second only to lung cancer as cause of deaths in women. Notwithstanding many progresses made in the field, metastatic BC has a very poor prognosis. As therapies are becoming more personalized
Fan C., Flores-Villanueva P. O., Generali D., Li Yong, Sobhani N.   +4 more
core   +1 more source

The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia

Prenatal Diagnosis, Volume 45, Issue 1, Page 77-88, January 2025.
ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Katri Rajala, Sanna Toiviainen‐Salo, Outi Mäkitie, Vedran Stefanovic, Laura Tanner   +4 more
wiley   +1 more source