Results 21 to 30 of about 385,840 (284)

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

Human Genomics, 2021
Introduction Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection
Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii, Mohammad Reza Moradi, Reza Pazhoomand, Shima Farrokhi, Masoumeh Heidari Feizabadi, Farzaneh Alizadeh, Majid Mojarrad   +8 more
doaj   +1 more source

Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

, 2023
Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems.
Packer, Nicolle H, Moh, Edward SX, Andreas Zankl, Edward S. X. Moh, Nicolle H. Packer, Zankl, Andreas   +5 more
core   +1 more source

Correlation of Femoral Trochlear Dysplasia With Anterior Cruciate Ligament Injury in Skeletally Immature Patients

Orthopaedic Journal of Sports Medicine, 2021
Background: Reports of anterior cruciate ligament (ACL) injury in patients with skeletal immaturity have been increasing. Variations in knee joint anatomy have been linked to ACL injury risk factors.
Yoon Hae Kwak MD, PhD, Ji-Hoon Nam MS, Yong-Gon Koh MD, Kyoung-Tak Kang PhD   +3 more
doaj   +1 more source

Is Plasma C-Type Natriuretic Peptide Level Suitable for Diagnosing and Typing Skeletal Dysplasia?

Trends in Pediatrics, 2022
Objective: Skeletal dysplasia is a heterogeneous group of diseases that lead to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been
Sirmen Kızılcan Çetin, Damla Gökşen, Samim Özen, Hüdaver Alper, Esra Işık, Su Özgür, Şükran Darcan   +6 more
doaj   +1 more source

HEMIMELIC SKELETAL DYSPLASIA [PDF]

The Journal of Bone and Joint Surgery. British volume, 1964
1. A case is reported of a Jamaican boy of fifteen months with typical and florid manifestations of dysplasia epiphysialis hemimelica associated with a number of atypical features not previously recorded. 2. The progress of the disorder over a limited period of two years is described and the development of the atypical features is discussed.
H M, SAXTON, J A, WILKINSON
openaire   +2 more sources

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia

Frontiers in Genetics, 2021
Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly.
Hui Tang, Hui Tang, Qin Zhang, Qin Zhang, Jingjing Xiang, Jingjing Xiang, Linliang Yin, Linliang Yin, Jing Wang, Ting Wang, Ting Wang   +10 more
doaj   +1 more source

Dermatoglyphs in skeletal dysplasias [PDF]

Postgraduate Medical Journal, 1977
Summary Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis.
David, Timothy, David, T. J.
openaire   +2 more sources

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

BMC Pregnancy and Childbirth, 2021
Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia.
Paolo Toscano, Lavinia Di Meglio, Fortunato Lonardo, Letizia Di Meglio, Laura Letizia Mazzarelli, Carmine Sica, Aniello Di Meglio   +6 more
doaj   +1 more source

Diagnostic use of skeletal survey in suspected skeletal dysplasia [PDF]

, 2009
<p><b>Objective:</b> To review the practice of skeletal surveys in cases of suspected skeletal dysplasia.</p> <p><b>Methods:</b> Retrospective review of records of patients with suspected skeletal dysplasia ...
Higgins, P., Ahmed, S.F., Butler, S., Dougan, E., Donaldson, M.D.C., Duncan, R., Murday, V., Veeramani, A.K.L.   +7 more
core   +1 more source

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical ...
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo   +12 more
doaj   +1 more source