Publications by authors named "Emma Fowler"

Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.

Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.

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Article Synopsis
  • Prenatal detection of copy number variants (CNVs) aids in diagnosing fetal genetic abnormalities and enhances early intervention in prenatal care.
  • * Various techniques such as SNP arrays, CGH arrays, NIPT, WES, and WGS are used for CNV detection, each with unique advantages and limitations.
  • * Accurate classification and interpretation of CNVs are critical for effective clinical management and addressing genetic counseling challenges, especially for variants with uncertain clinical significance.
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Limited throughput is a shortcoming of the Scanning Tunneling Microscope (STM), particularly when used for atomically precise lithography. To address this issue, we have developed an on-chip STM based on Microelectromechanical-Systems (MEMS) technology. The device reported here has one degree of freedom, replacing the Z axis in a conventional STM.

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When speaking to infants, adults often produce speech that differs systematically from that directed to other adults. To quantify the acoustic properties of this speech style across a wide variety of languages and cultures, we extracted results from empirical studies on the acoustic features of infant-directed speech. We analysed data from 88 unique studies (734 effect sizes) on the following five acoustic parameters that have been systematically examined in the literature: fundamental frequency (f), f variability, vowel space area, articulation rate and vowel duration.

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The major obstacle in successfully treating triple-negative breast cancer (TNBC) is resistance to cytotoxic chemotherapy, the mainstay of treatment in this disease. Previous preclinical models of chemoresistance in TNBC have suffered from a lack of clinical relevance. Using a single high dose chemotherapy treatment, we developed a novel MDA-MB-436 cell-based model of chemoresistance characterized by a unique and complex morphologic phenotype, which consists of polyploid giant cancer cells giving rise to neuron-like mononuclear daughter cells filled with smaller but functional mitochondria and numerous lipid droplets.

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Titanosaurian sauropod dinosaurs were the most diverse and abundant large-bodied herbivores in the southern continents during the final 30 million years of the Mesozoic Era. Several titanosaur species are regarded as the most massive land-living animals yet discovered; nevertheless, nearly all of these giant titanosaurs are known only from very incomplete fossils, hindering a detailed understanding of their anatomy. Here we describe a new and gigantic titanosaur, Dreadnoughtus schrani, from Upper Cretaceous sediments in southern Patagonia, Argentina.

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