Results 141 to 150 of about 20,731 (178)

Identification of N-debenzisothiazole-lurasidone as an enzymatic degradation product of lurasidone. [PDF]

J Anal Toxicol
Farrell K, Fraser T, Butzbach D, Castle J, Kirkbride KP.   +4 more
europepmc   +1 more source

Access to primary care for people with chronic pain: a lived/living experience-informed mixed-methods study protocol. [PDF]

BMJ Open
Gooderham E, Lavergne MR, McCracken RK, Holtorf-Ma E, Hedden L.   +4 more
europepmc   +1 more source

Effective spectrum-based antibiotic resistance index for monitoring resistance in Gram-negative bacilli. [PDF]

Antimicrob Steward Healthc Epidemiol
Vazquez Guillamet MC, Bewley A, Tarlton NJ, Goodman R, Durkin MJ, Bernauer M, Brett M, Hsueh K, Bologa C, Turabelidze G, Atkinson A, Fraser VJ.   +11 more
europepmc   +1 more source

Fraser Syndrome: Epidemiological Study in a European Population

American Journal of Medical Genetics, Part A, 2013
AbstractFraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population‐based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries.
Maria Loane, Helen Dolk, Larraitz Arriola   +2 more
exaly   +9 more sources

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Intrafamilial variability in Fraser syndrome

Prenatal Diagnosis, 2007
AbstractFraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. There is marked interfamilial clinical heterogeneity.
Pankaj Prasun, Mandakini Pradhan
exaly   +3 more sources

Oral healthcare in Fraser syndrome

Special Care in Dentistry, 2017
ABSTRACTFraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive ...
Yazan Hassona
exaly   +3 more sources

Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

American Journal of Medical Genetics Part A, 1994
AbstractWe report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia.
Cathy A Stevens, , John C Carey
exaly   +3 more sources

Fraser-cryptophthalmos syndrome with colonic atresia

Indian Journal of Pediatrics, 2008
Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.
Dheeraj Shāh, Narang Manish, Shāh Dheeraj   +2 more
exaly   +3 more sources

Mutations in GRIP1 cause Fraser syndrome

Journal of Medical Genetics, 2012
Background Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS. Both FRAS1 and FREM2 encode extracellular matrix
Vogel, Maartje J., van Zon, Patrick, Brueton, Louise, Gijzen, Marleen, van Tuil, Marc, Cox, Philip, Schanze, Denny, Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Blair, Edward, Zenker, Martin, Scambler, Peter J., Ploos van Amstel, Hans Kristian, van Haelst, MM   +13 more
openaire   +5 more sources

Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period

Resuscitation, 2005
Long segment laryngo-tracheal atresia is rare, and is usually incompatible with life in neonates. We report a case of an infant with Fraser syndrome that had not been diagnosed in the prenatal period who presented with impossible intubation due to severe
E Esra Onal, Aydan Biri, Ipek Isik Gönül   +2 more
exaly   +2 more sources