Results 91 to 100 of about 20,731 (178)

Clinical Manifestations And Oral Findings In Fraser Syndrome

, 2015
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient.
De Paula A.B., Dos Santos-Pinto L., Diniz M.B., Lima L.M., Sacono N.T.   +4 more
core  

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

, 2003
Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although ...
Hopkins, Jason, Elizabeth Bentley, McGregor, L, Hopkins, J, Scambler, PJ, Kerr, Bronwyn, Alison Shaw, Shalini Jadeja, Wainwright, B, Lesley McGregor, Kerr, B, Winter, Robin M, Natalie Prescott, Emma Roberts, Susan M Darling, Vrontou, Sofia, Smart, N, Shaw, Alison, Darling, Susan M, Catherine Roberts, Paul Rutland, Bronwyn Kerr, Megarbane, Andre, Prescott, Natalie, Sofia Vrontou, Shaw, A, Chalepakis, Georges, Philip, Nicole, Perez-Aytes, A, Mueller, R, Bentley, Elizabeth, Perez-Aytes, Antonio, Scambler, Peter J, John Nelson, Rutland, P, Wainwright, Brandon, Vrontou, S, Francannet, C, Roberts, Catherine, Mueller, Robert, Prescott, N, Nelson, John, Roberts, C, Roberts, Emma, Peter J Scambler, Brandon Wainwright, Makela, Ville, Bentley, E, Ville Makela, McGregor, Lesley, Smart, Nicola, Georges Chalepakis, Jadeja, S, Darling, SM, Robin M Winter, Robert Mueller, Rutland, Paul, Winter, RM, Woolf, Adrian S, Andre Megarbane, Nicola Smart, Jason Hopkins, Woolf, AS, Christine Francannet, Nelson, J, Makela, V, Antonio Perez-Aytes, Chalepakis, G, Philip, N, Adrian S Woolf, Jadeja, Shalini, Francannet, Christine, Megarbane, A, Roberts, E, Nicole Philip   +74 more
core   +1 more source

Fraser Syndrome: Case Report

Pakistan is a low resource country where the literacy rate is poor. Women scarcely receive antenatal care .We present a case of Fraser syndrome. The patient in question was referred by a lady health worker to the tertiary care hospital for workup at 7 ...
Nosheela Javed, Usman , Sara, Usman, Zeenat   +2 more
core   +2 more sources

Comprehensive analysis of Fraser syndrome 1 as a potential biomarker and therapeutic target in hepatocellular carcinoma

Journal of Radiation Research and Applied Sciences
Background: Fraser syndrome 1 (FRAS1) is an extracellular matrix (ECM) protein that plays a vital role in epidermal basement membrane adhesion and organ development. FRAS1 also plays a crucial role in cancer development.
Zeyu Sun, Chaoxin Jin, Xuanchen Tao, Pengge Wang, Baiying Liu, Xinyu Xing, Tiewei Sun   +6 more
doaj   +1 more source

A Rare Case of Fraser Syndrome with Partial Vaginal Agenesis and Its Successful Reconstructive Cosmetic Management: A Case Report. [PDF]

J Obstet Gynaecol India, 2022
Panigrahi S, Mohapatra K, Pradhan M, Mishra S, Samal S.   +4 more
europepmc   +1 more source

Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome–associated proteins [PDF]

©2012 Kiyozumi et al. Originally published in the Journal of Cell Biology. https://doi.org/10.1083/jcb.201203065Dysfunction of the basement membrane protein QBRICK provokes Fraser syndrome, which results in renal dysmorphogenesis, cryptophthalmos ...
Fukuda, Tomohiko, Kiyozumi, Daiji, Sekiguchi, Kiyotoshi, Sato, Yuya, Nakano, Itsuko, Takeichi, Makiko   +5 more
core   +1 more source

A novel mutation in the FRAS1 gene in a patient with fraser syndrome

, 2015
A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the
Görukmez, O., Türe, M., Schanze, D., Yakut, T., Sağ, S. Özemri, Şahintürk, S., Zenker, M., Gülten, T., Topak, A.   +8 more
core   +1 more source

Fraser syndrome [PDF]

, 2020
openaire   +3 more sources

Fraser syndrome: case report

, 2008
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Pinheiro, Regina Helena Rathsam, Saraceno, Janaína [UNIFESP], Lopes, Tâmara, Lima, Humberto Castro, Chaves, Alessandra Pinheiro [UNIFESP]   +4 more
core   +1 more source

FRASER SYNDROME [PDF]

, 2018
Methodius G. Tuuli, Anthony O. Odibo
openaire   +2 more sources