Results 51 to 60 of about 500 (134)
Síndrome de Treacher Collins en una familia cubana. Presentación de caso [PDF]
, 2016 Introducción: El Síndrome de Treacher Collins es un desorden genético del desarrollo craneofacial caracterizado por una displasia otomandibular simétrica y bilateral, asociado a diversas anomalías de cabeza y cuello, pero sin afectación de las ...
Ileana Agramonte Centelles +1 more
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Spotlight on the Replisome: Aetiology of DNA Replication-Associated Genetic Diseases. [PDF]
, 2020 Human development and tissue homeostasis depend on the regulated control of cellular proliferation and differentiation. DNA replication is essential to couple genome duplication and cell division with the establishment and maintenance of cellular ...
Bellelli, R, Boulton, SJ
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American Journal of Medical Genetics Part A, Volume 194, Issue 3, March 2024.Abstract Neurodevelopmental disorders exhibit recurrent facial features that can suggest the genetic diagnosis at a glance, but recognizing subtle dysmorphisms is a specialized skill that requires very long training. Face2Gene (FDNA Inc) is an innovative computer‐aided phenotyping tool that analyses patient's portraits and suggests 30 candidate ...
Alessia Carrer +5 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
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
Clinical and genetic particularities in Franceschetti syndrome: presentation of clinical case [PDF]
, 2020 State University of Medicine and Pharmacy “Nicolae Testemitanu”, Department of Molecular Biology and Human Genetics, PMI Institute of Mother and Child, Chisinau, Republic of Moldova, Congresul consacrat aniversării a 75-a de la fondarea Universității de ...
Zmuncila, Loredana
core
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
Mandibulofacial Dysostosis with Microcephaly: A Case Report and a Review of the Literature
Genetic ClinicsMandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome with characteristic craniofacial and external ear abnormalities and microcephaly. It is inherited in an autosomal dominant mode of inheritance with high penetrance and variable expressivity.
Naik Adarsha, Haseena Sait
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The Neonate with Minor Dysmorphisms [PDF]
, 2017 Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are ...
Berceanu, Costin +4 more
core +2 more sources
Teratogens and craniofacial malformations: relationships to cell death [PDF]
, 1988 Environmental agents including ethanol, 13-cis retinoic acid (RA, Accutane), the antimetabolite methotrexate, periods of hypoxia, ionizing radiation or hyperthermic stress, when administered acutely to pregnant experimental animals, induce stage ...
core +2 more sources