Results 101 to 110 of about 10,063 (203)
Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia
Journal of Nepal Medical Association, 2018 Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism.
Shyam Bahadur Khanal +4 more
doaj +1 more source
, 2001 This paper draws on an international literature to consider ways in which children work as researchers. Children’s and teenagers’ activities at various stages of research projects, their levels of participation, and their use of a range of research ...
Alderson, Priscilla
core +3 more sources
Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia
Global Spine JournalStudy Design Retrospective cohort study Objectives To describe the common types of complications and their risk factors during spine surgery in patients with achondroplasia.
Julie L. Chan MD, PhD +8 more
doaj +1 more source
Journal of ImagingThis retrospective study assessed anatomical characteristics of cervicomedullary compression in children with achondroplasia. Twelve anatomical parameters were analyzed (foramen magnum diameter and area; myelon area; clivus length; tentorium and ...
Isabella Trautwein +4 more
doaj +1 more source
Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
Case Reports in Obstetrics and Gynecology, 2015 Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration.
Esther Perez-Carbajo +5 more
doaj +1 more source
Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]
, 2005 This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M. +2 more
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Biothérapie pour l'achondroplasie [PDF]
, 2014 L'achondroplasie est une maladie génétique rare caractérisée par un développement osseux anormal et une obésité précoce. Cette pathologie est due à une mutation dans le gène codant le FGFR3 conduisant à son activation prolongée dans le cartilage de ...
Garcia, Stéphanie
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Distraction osteogenesis of the lower extremity with use of monolateral external fixation [PDF]
, 1998 We reviewed the results of distraction osteogenesis of 114 femora and 147 tibiae that had been lengthened to treat a variety of diagnoses. The femora had been lengthened an average of eleven centimeters (range, 3.5 to 17.0 centimeters), or 48 per cent ...
Cañadell, J.M. (J. M.) +3 more
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Cell-free fetal DNA: the new tool in fetal medicine. [PDF]
, 2014 Chitty, LS, Everett, TR
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Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans [PDF]
, 2017 Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias.
Blanche, Martine +11 more
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