Results 31 to 40 of about 812 (180)
Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021 Whole‐exome sequencing was applied to hunt for possible etiologic variants in six individuals that presented with orofacial clefts and clubfoot. Our genomics and bioinformatics analyses revealed many genetic syndromes in four out of the six probands, with multiple variants in genes associated with certain genetic syndromes being observed in some ...
Lord J. J. Gowans +17 more
wiley +1 more source
Circular RNA profiling identifies circ102049 as a key regulator of colorectal liver metastasis
Molecular Oncology, Volume 15, Issue 2, Page 623-641, February 2021., 2021 Here, we identify circ102049 as a regulator of metastatic colorectal cancer (CRC). High circ102049 levels were correlated with poor clinical outcomes in patients with CRC and promoted liver metastasis in an FRAS1‐dependent manner. Circ102049 regulated the levels of the FRAS1‐targeting miR‐761 and miR‐192‐3p both directly (acting as a miRNA sponge) and ...
Qiaoming Zhi +9 more
wiley +1 more source
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
American Journal of Medical Genetics Part A, Volume 182, Issue 7, Page 1681-1689, July 2020., 2020 Abstract Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates ...
Felix Kunz +10 more
wiley +1 more source
Fraser syndrome without cryptophthalmos: A rare case report
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015 Fraser syndrome is a rare autosomal recessive multisystem disorder characterized by features such as cryptophthalmos, syndactyly, congenital malformations, and abnormal genitalia.
Jimmy Kishan Sangtani +3 more
doaj +1 more source
Case Reports in Radiology, Volume 2020, Issue 1, 2020., 2020 Congenital high airway obstruction syndrome (CHAOS) is complete or partial obstruction of the fetal upper airway. CHAOS is a rare and fatal condition if no perinatal intervention is done. Antenatal sonographic imaging has typical findings that can help in an early diagnosis, which is important in deciding elective termination of the pregnancy or ...
Ammar Ashraf +4 more
wiley +1 more source
Indian Journal of Ophthalmology, 2022 Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous.
Deepsekhar Das +5 more
doaj +1 more source
Reconstruction strategy in isolated complete Cryptophthalmos: a case series
BMC Ophthalmology, 2019 Background The present study sought to introduce clinical characteristics and stepwise surgical strategies of isolated complete cryptophthalmos, a rare, congenital ocular anomaly. Case presentation Retrospective, noncomparative, clinical study.
Zhaochuan Liu +4 more
doaj +1 more source
Case Reports in Ophthalmological Medicine, Volume 2019, Issue 1, 2019., 2019 Purpose. Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial
Nasser G. Alsaedi +2 more
wiley +1 more source
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. [PDF]
PLoS ONE, 2013 The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems.
Tyler F Beck +10 more
doaj +1 more source