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ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
No full textCleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
No full textAcro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a
rare condition belonging to the group of ectodermal dysplasias
caused by TP63 mutations. Its clinical phenotype is similar to
ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and
limb-mammary syndrome (LMS), and differs from these disordersmainlyby
the absence of cleft lipand/or palate.We reportona
39-year-old patient who was found to be heterozygous for a
c.401G>T (p.Gly134Val) de novomutation of TP63. This patient
had the ADULT phenotype associated with cleft palate. Our
findings, rather than extend the clinical spectrum of ADULT
syndrome, suggest that cleft palate can no longer be considered
an element for differential diagnosis for ADULT, EEC, and LMS.
Our data, added to other reports on overlapping phenotypes,
support the combining of these three phenotypes into a unique
entity that we propose to call ‘‘ELA syndrome,’’ which is an
acronymof ectrodactyly-ectodermal dysplasia-cleft lip and palate,
limb-mammary, andADULT syndromes
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