Results 61 to 70 of about 21,112 (225)

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family [PDF]

, 2010
Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos   +7 more
core   +1 more source

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report [PDF]

, 2009
Udgivelsesdato: 2009-nullABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region ...
Gitte J Almind, Karen Brøndum-Nielsen, Karen Grønskov, Peter Baekgaard, Regitze Bangsgaard   +4 more
core   +3 more sources

Arthroscopic Anterior Cruciate Ligament Reconstruction in a 17-Year-Old Female Athlete with Multiple Hereditary Exostoses Using a Peroneus Longus Autograft: A Rare Case Report

Journal of Orthopaedic Case Reports
Introduction: Hereditary multiple exostoses, also known as multiple osteochondromas, is a rare genetic disorder marked by the formation of osteocartilaginous outgrowths predominantly near the metaphysis of long bones.
Sanjay Singh Chauhan, Harshita Udiwal, Narendra Singh Butola   +2 more
doaj   +1 more source

Glycan Engineering for Cell and Developmental Biology [PDF]

, 2016
Cell-surface glycans are a diverse class of macromolecules that participate in many key biological processes, including cell-cell communication, development, and disease progression.
Griffin, Matthew E., Hsieh-Wilson, Linda C.   +1 more
core   +1 more source

Overcoming the Technical Challenges of Total Knee Arthroplasty in Patients Affected by Hereditary Multiple Exostoses: a Case Report and Literature Review

SN Comprehensive Clinical Medicine, 2022
Hereditary multiple exostoses (HME), also known as familiar osteochondromatosis or diaphyseal aclasis, are an autosomal dominant inherited genetic pathology that is characterized by the presence of multiple benign osteochondromas.
E. Cammisa, D. Alesi, A. Meena, G. Lullini, S. Zaffagnini, G. M. Marcheggiani Muccioli   +5 more
semanticscholar   +1 more source

Tooth row allometry in domestic rabbits and nondomestic lagomorphs: Evidence for a decoupling of body and tooth row size changes in evolutionary time

The Anatomical Record, EarlyView.
Domestic rabbits of different body sizes differ disproportionately in the length of their tooth row or the length of their diastema. Abstract In various domestic mammals, smaller breeds tend to have proportionally larger teeth, whereas this is not a universal trend across mammals.
Ursina L. Fasciati, Christine Böhmer, Stefanie Ohlerth, Marcus Clauss   +3 more
wiley   +1 more source

A Quantitative Approach to Record Skeletal Manifestations of Leprosy and Its Application to St Mary Magdalen Leprosarium, Winchester

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT This paper presents and tests a new method for publishing and diagnosing leprosy‐related skeletal lesions while making available the leprosy‐related demographic data and pathology for St Mary Magdalen, Winchester (MMW). This method can facilitate interstudy comparisons of leprosy prevalence and severity by improving data comparability.
A. A. Blom, H. Dawson‐Hobbis, S. Gross, K. White‐Iribhogbe, V. J. Schuenemann, S. A. Inskip   +5 more
wiley   +1 more source

Congenital multiple exostoses with congenital heart disease

Medical Journal of Dr. D.Y. Patil University, 2017
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
doaj   +1 more source

Small sharp exostosis tip in solitary osteochondroma causing intermittent knee pain due to pseudoaneurysm

, 2014
Background: Complications of solitary or multiple osteochondromas are rare but have been reported in recent literature. Most reported complications arose in patients with multiple and/or sizable osteochondromas.
Bachhuber, D. (Dagmar), Gosheger, G. (Georg), Guder, W. (Wiebke), Hardes, J. (Jendrik), Henrichs, M. (Marcel-Philipp), Köhler, M. (Michael), Streitbürger, A. (Arne)   +6 more
core   +1 more source

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +1 more source