Results 51 to 60 of about 53,280 (283)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
wiley +1 more source
The face, beauty, and symmetry: Perceiving asymmetry in beautiful faces [PDF]
, 2005 The relationship between bilateral facial symmetry and beauty remains to be clarified. Here, straight head-on photographs of “beautiful” faces from the collections of professional modeling agencies were selected.
Cohen, Jennifer A. +1 more
core +1 more source
Developmental Effects of Nicotine Exposure in Drosophila Melanogaster [PDF]
, 2017 Approximately 12%-20% of pregnant women smoke at some point during pregnancy, and 10% of pregnant women are reported to have smoked during the last 3 months of pregnancy.
Wong, Lisa Janet
core +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
An integrated genomic approach for the study of mandibular prognathism in the European seabass (Dicentrarchus labrax) [PDF]
, 2016 Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and causing significant economic losses. Here, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide ...
Babbucci, Massimiliano +7 more
core +2 more sources
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice
Frontiers in Physiology, 2017 The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities.
Xiaoxi Wei +5 more
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Frontiers in Physiology, 2012 Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities.
Lotta eVeistinen +5 more
doaj +1 more source