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]

open access: yesInvest Ophthalmol Vis Sci
Rodrigues D   +7 more
europepmc   +1 more source

ADAR-GPT: Learning the language of the epitranscriptome. [PDF]

open access: yesProc Natl Acad Sci U S A
Wang S, Fraser A, Xiao X.
europepmc   +1 more source

Fraser Syndrome: A Stumbling Block for the Anaesthesiologist [PDF]

open access: yesIndian Journal of Otolaryngology and Head & Neck Surgery, 2020
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
openaire   +3 more sources
Some of the next articles are maybe not open access.

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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.
Mandakini Pradhan
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.
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, 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.
Judith Rankin   +2 more
exaly   +9 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.
Manish Narang, Dheeraj Shah
exaly   +3 more sources

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