Results 91 to 100 of about 748 (171)

Cryptophthalmos-Syndactyly (Fraser) Syndrome [PDF]

, 2018
Ben Janson
core   +1 more source

Síndrome de FRASER: primer caso reportado en Nicaragua [PDF]

Fraser síndrome is a genetic syndrome with autosomal recessive inheritance. It present with many congenital anomalies, but predominantly includes the presence of uni or bilateral cryptophthalmos, cutaneous syndactyly and genitourinary anomalies. A number
Talavera, Nubia, Mejía-Baltodano, Gerardo, Vallejos, María Lisseth, Jirón , Alejandra, Alemán, Violeta, Montenegro, Alba Nubia   +5 more
core  

Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management. [PDF]

J Surg Case Rep
Al Khathami A, Al Subaie RS, Al Subaie M, Alsalouli FAA, Khan K.   +4 more
europepmc   +1 more source

Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges. [PDF]

Oxf Med Case Reports
Hallak M, Emran B, Milhem F, Badran A, Mallak A, Hajjeh O, Nabresi N.   +6 more
europepmc   +1 more source

Massive Retinal Gliosis in an Infant Microphthalmic Globe: A Case Report. [PDF]

Am J Case Rep, 2021
Al-Essa RS, Alkatan HM, Arafah MA, Al-Faky YH.   +3 more
europepmc   +1 more source

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2. [PDF]

Hum Genome Var, 2020
Ikeda S, Akamatsu C, Ijuin A, Nagashima A, Sasaki M, Mochizuki A, Nagase H, Enomoto Y, Kuroda Y, Kurosawa K, Ishikawa H.   +10 more
europepmc   +1 more source

Global Research Landscape of Artificial Intelligence in Urology: A Systematic Analysis of Emerging Trends, Clinical Impact, and Collaborative Networks (1971-2024). [PDF]

Med J Islam Repub Iran
Hatampour K, Baghi Keshtan S, Mohammadi G, Akbarniakhaky H, Faryabi A, Aazami H, Fattahi MR, Seif F, Dehghanbanadaki H.   +8 more
europepmc   +1 more source

1315 SYNDROMIC AND ISOLATED CRYPTOPHTHALMOS [PDF]

, 1985
L Sanchez de Leon, J L Frias, M C Jones, I T Thomas, V Felix, R A Hernandez   +5 more
core   +1 more source

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M. [PDF]

BMC Med Genomics
Yan L, Liu Y, Zhang Y, Han C, Cao J, Zou J, Luo H, Li H.   +7 more
europepmc   +1 more source

Interplay of ECM organization, ROCK signaling, and cell polarity drives mesothelium formation and lung growth. [PDF]

Nat Commun
Liu X, Lin B, Li P, Cai Z, Cao W, Yang W, Zeng J, Li L, Zhou Y, Huang D, Stainier DYR, Ran P, Yin W.   +12 more
europepmc   +1 more source