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Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto‐onychial subgroup
(1986-01-01)
A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ...
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)
(Wiley-lissNew YorkEUA, 2002)
AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias
(Blackwell Science Inc, 2000-05-01)
Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal ...
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis
(WILEY-BLACKWELLMALDEN, 2012)
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental ...
Combinatorial Fgf and Bmp signalling patterns the gastrula ectoderm into prospective neural and epidermal domains
(2004)
Studies in fish and amphibia have shown that graded Bmp signalling activity regulates dorsal-to-ventral (DV) patterning of the gastrula embryo. In the ectoderm, it is thought that high levels of Bmp activity promote epidermal ...
RE-1 silencer of transcription/neural restrictive silencer factor modulates ectodermal patterning during Xenopus development
(SOC NEUROSCIENCE, 2006-03-08)
RE-1 silencer of transcription/neural restrictive silencer factor (REST/NRSF), a transcriptional repressor, binds to the RE-1 element present in many vertebrate genes. In vitro studies indicate that REST/NRSF plays important ...
A genome-wide association study identifies multiple loci for variation in human ear morphology
(Nature Publishing, 2015)
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, ...
Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci
(PLoS, 2023)
Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ...
Inmunohistoquímica como método de diagnóstico en neoplasias cutáneas de origen epitelial en caninos
(Universidad Nacional Mayor de San MarcosPE, 2006)
El objetivo del presente trabajo fue el de recopilar la mayor información posible sobre el diagnóstico inmunohistoquímico de las neoplasias cutáneas epiteliales caninas, con el fin de que en un futuro, en nuestro medio ...