Search Results - "Espinós, C"
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Gastrointestinal Physiological Changes and Their Relationship to Weight Loss Following the POSE Procedure
Published in Obesity surgery (01-05-2016)“…Background Primary Obesity Surgery Endolumenal (POSE) is a novel bariatric endoscopic procedure that has been shown to reduce weight safely through 12 months…”
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Endoscopic treatment with self-expanding metal stents for Crohn's disease strictures
Published in Alimentary pharmacology & therapeutics (01-11-2012)“…Balloon dilation (with or without steroid injection) is the endoscopic treatment of choice for short strictures in Crohn's disease (CD). The placement of a…”
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Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex
Published in European journal of neurology (01-12-2020)“…Mutations in the EGR2 cause demyelinating, but also axonal neuropathies and, except for one family, all reported cases have autosomal dominant inheritance with…”
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
Published in Journal of medical genetics (01-04-2005)Get full text
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A century with the Magill forceps
Published in Revista española de anestesiología y reanimación (English ed.) (01-06-2020)Get full text
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Letter: the role of stent in the treatment of Crohn's disease strictures – authors’ reply
Published in Alimentary pharmacology & therapeutics (01-02-2013)Get full text
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Clinical, radiological and genetic characterization of PLA2G6-associated neurodegeneration
Published in European journal of paediatric neurology (01-06-2017)Get full text
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Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria
Published in Clinical genetics (01-12-2010)“…Espinós C, García‐Cazorla A, Martínez‐Rubio D, Martínez‐Martínez E, Vilaseca MA, Pérez‐Dueñas B, Kožich V, Palau F, Artuch R. Ancient origin of the CTH alelle…”
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Usefulness of endoscopic ultrasonography (EUS) for selecting carcinoid tumors as candidates to endoscopic resection
Published in Revista española de enfermedades digestivas (01-10-2010)“…Carcinoid tumors (CTs) represent the most common type of neuroendocrine tumors (NETs). Digestive CTs in the gastroduodenal and colorectal tracts may be…”
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OP61 – 2294: Pantotenate kinase associated neurodegeneration: Clinical assessment and genetic characterization by means of a Spanish multi-centre research network
Published in European journal of paediatric neurology (01-05-2015)“…Objective We aimed to design and validate a quantitative method for clinical assessment of pantothenate kinase associated neurodegeneration (PKAN). Methods…”
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Clip Closure After Resection of Large Colorectal Lesions With Substantial Risk of Bleeding
Published in Gastroenterology (New York, N.Y. 1943) (01-11-2019)“…It is not clear whether closure of mucosal defects with clips after colonic endoscopic mucosal resection (EMR) prevents delayed bleeding, although it seems to…”
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On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
Published in Clinical genetics (01-04-2018)“…Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with…”
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Early Experience with the Incisionless Operating Platform™ (IOP) for the Treatment of Obesity: The Primary Obesity Surgery Endolumenal (POSE) Procedure
Published in Obesity surgery (01-09-2013)“…Background We report our initial experience and 6-month outcomes in a single center using the per-oral Incisionless Operating Platform™ (IOP) (USGI Medical) to…”
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Gastric carcinoid tumors: an analysis of 24 cases
Published in Revista española de enfermedades digestivas (01-11-2013)Get full text
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Drug Consumption and the Risk of Microscopic Colitis
Published in The American journal of gastroenterology (01-02-2007)“…Microscopic colitis is a rare disease of unknown etiology. It has been described that some drugs could cause or worsen the disease; however, the scientific…”
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The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease
Published in European journal of neurology (01-12-2015)“…Background and purpose A three‐generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic…”
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Clinical spectrum of BICD2 mutations
Published in European journal of neurology (01-07-2020)“…Background and purpose Mutations in the BICD2 gene cause autosomal dominant lower extremity‐predominant spinal muscular atrophy 2A (SMALED2A), a condition that…”
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Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
Published in Clinical genetics (01-06-2013)“…Four private mutations responsible for three forms demyelinating of Charcot‐Marie‐Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been…”
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Twin‐sisters with PLA2G6‐associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization
Published in Clinical genetics (01-07-2017)Get full text
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Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation
Published in Journal of neurology, neurosurgery and psychiatry (01-11-2016)Get full text
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