Results 21 to 30 of about 3,158 (217)

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

Cervical vertebrae fusion in elbow knee synostosis (Eks)-mutant mice with fibroblast growth factor 9 N143T mutation. [PDF]

Congenit Anom (Kyoto)
Abstract Proper vertebral column development requires precise segmentation and regulated chondrogenesis during embryogenesis. Mutations affecting fibroblast growth factor 9 (FGF9) signaling disrupt these processes, resulting in abnormal vertebral column development.
Djameh G, Harada M, Akita K.
europepmc   +2 more sources

Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis. [PDF]

PLoS ONE, 2011
Craniosynostosis is a disease defined by premature fusion of one or more cranial sutures. The mechanistic pathology of single-suture craniosynostosis is complex and while a number of genetic biomarkers and environmental predispositions have been ...
Brendan D Stamper, Sarah S Park, Richard P Beyer, Theo K Bammler, Frederico M Farin, Brig Mecham, Michael L Cunningham   +6 more
doaj   +1 more source

Fluctuating dental asymmetry in rabbits with familial nonsyndromic coronal suture synostosis

Dentistry 3000, 2017
Fluctuating dental asymmetry has been linked to conditions of unstable pre- and peri-natal development. Familial, nonsyndromic craniosynostosis disrupts early craniofacial development through localized excessive calvarial ossification leading to the ...
Mae A. Hyre, Seth M. Weinberg, Gregory M. Cooper, James Gilbert, Michael I. Siegel, Mark P. Mooney   +5 more
doaj   +1 more source

CRISPR/Cas9 mediated FGFR2 down-regulation alleviatespremature closure of cranial suture in an Apert syndromemouse model

生物医学转化, 2021
Apert syndrome (AS) is characterized by synostosis of coronal sutures, midfacial hypoplasia,abnormity of brain, syndactyly of hands and feet. Majority of AS is caused by gain-of-function mutation of fibro‐blast growth factor receptor 2 (FGFR2).
Luo Fengtao, Xie Yangli, Li Can, Tan Qiaoyan, Du Xiaolan, Chen Lin   +5 more
doaj   +1 more source

A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

Translational Research in Anatomy, 2016
Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can ...
Madison Budinich, Brittni Burgess, Christian Fisahn, Rod J. Oskouian, R. Shane Tubbs, Elias Rizk   +5 more
doaj   +1 more source

A child with Roberts syndrome presenting severe craniofacial anomaly

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Roberts syndrome is a rare congenital anomaly which was described by John Roberts in 1919, also known as pseudothalidomidic or phocomelia. Characterized by skeletal deformities, in particular symmetric reduction of the extremities and craniofacial ...
Nicolas Solano, Maria Sierralta, Salomon Ramos, Betsabe Sarcos   +3 more
doaj   +1 more source

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +5 more sources

Crouzon syndrome

Medical Journal of Dr. D.Y. Patil University, 2013
Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder.
Neha Rajappa, Sadananda Patra, Abha Gahlot, Snehal Bhalsing   +3 more
doaj   +1 more source