Results 51 to 60 of about 64,652,082 (128)
Updated EUROCAT guidelines for classification of cases with congenital anomalies
Birth Defects Research, Volume 116, Issue 2, February 2024.Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman +7 more
wiley +1 more source
The FASEB Journal, 2019 Haploinsufficiency of EFTUD2 is associated with MFDM (mandibulofacial dysostosis with microcephaly), but the etiology of this syndrome remains unknown. Our goal is to determine the tissue and temporal specific expression and requirement for Eftud2 ...
Marie‐Claude Beauchamp +5 more
openaire +1 more source
Defects of the spliceosomal gene SNRPB affect osteo‐ and chondro‐differentiation
The FEBS Journal, Volume 291, Issue 2, Page 272-291, January 2024.A spliceosomal defect syndrome, Cerebro‐Costo‐Mandibular syndrome, is a congenital skeletal dysplasia, caused by loss‐of‐function mutations of SNRPB which encodes a spliceosomal protein SmB/B’. We found that SNRPB deficiency leads to suppressed osteodifferentiation and promoted chondrogenesis.
Chris Knill +6 more
wiley +1 more source
, 2020 We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate.
Maria Leine Guion-Almeida +3 more
core
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia [PDF]
, 2016 Dear Editor, The acrofacial dysostosis syndromes (AFDs) involve a group of disorders characterized by mandibulofacial dysostosis and limb anomalies [1,2]. They are classified into two major groups according to the type of limb defects; Nager type and
Ulku Mete Ural +3 more
core +1 more source
, 2020 Additional file 2: Table S1. Number of prioritized variants during the WES data filtering analysis.
Jacob, Arthur +10 more
openaire +1 more source
The Continuity of Mandibular Form in Mandibulofacial Dysostosis
, 1982 It is reported in studies of patients with Mandibulofacial Dysostosis (Treacher Collins Syndrome, MFD) that the lower border of the mandible exhibits a consistent form.
R.G. Behrents
core +1 more source
, 2020 Additional file 1: Supplementary Fig. 1. mRNA sequence of the WT allele versus the mutant allele. The exon 9 skipping in mutant allele is predicted to cause a frameshift, leading to a premature codon stop. The exon 8 is in red, exon 9 in green and exon 10 in blue.
Jacob, Arthur +10 more
openaire +1 more source
Mandibulofacial dysostosis : a case report [PDF]
, 1973 A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Griscti-Soler, A. +1 more
core