Results 141 to 150 of about 1,431,497 (181)
Impact of Continuous Positive Airway Pressure Treatment on Retinal Vasculature in Obstructive Sleep Apnea: A 7-Year Follow-Up. [PDF]
Rodrigues D +7 more
europepmc +1 more source
ADAR-GPT: Learning the language of the epitranscriptome. [PDF]
Wang S, Fraser A, Xiao X.
europepmc +1 more source
Fraser Syndrome: A Stumbling Block for the Anaesthesiologist [PDF]
Fraser syndrome is a rare autosomal recessive disorder with spectrum of malformations. Gamut of abnormal airway includes high arched palate, laryngeal atresia, hypoplasia, laryngeal stenosis etc. Laryngeal intubation difficulties have often been reported in literature.
Sapna, Bathla +3 more
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Intrafamilial Variability in Fraser Syndrome
Prenatal Diagnosis, 2007AbstractFraser 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.
Mandakini Pradhan
exaly +3 more sources
Pulmonary Hyperplasia in the Fraser Cryptophthalmos Syndrome
American Journal of Medical Genetics, Part A, 1994AbstractWe 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.
John Carey, Cathy A Stevens, C A Stevens
exaly +3 more sources
Fraser Syndrome: Epidemiological Study in a European Population
American Journal of Medical Genetics, Part A, 2013AbstractFraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a populationābased epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries.
Judith Rankin +2 more
exaly +9 more sources
Fraser-Cryptophthalmos Syndrome With Colonic Atresia
Indian Journal of Pediatrics, 2008Fraser 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.
Manish Narang, Dheeraj Shah
exaly +3 more sources

