Výsledky vyhledávání - "Geraldine Malone"

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Autor: William G. Newman, Siddharth Banka, Víctor Faundes, Geraldine Malone

Publikováno v: Faundes, V, Malone, G, Newman, W G & Banka, S 2019, ' A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population ', Journal of Human Genetics, vol. 64, no. 2, pp. 161-170 . https://doi.org/10.1038/s10038-018-0536-6

Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in controls (Control-MVs), 584 som

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dac5a2a2553b8a43dd73aabf69397db
https://www.research.manchester.ac.uk/portal/en/publications/a-comparative-analysis-of-kmt2d-missense-variants-in-kabuki-syndrome-cancers-and-the-general-population(5a32efa7-781d-4061-b860-b54c00df8792).html

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The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania

Autor: Martin Schwarz, Livia Budişan, Emma Brownsell, Liviu Pop, I. Popa, M Bulman, Gheorghe Benga, Simona Mosescu, Lucian Frenţescu, Geraldine Malone, Joanna Hinks, Emil Tomescu, Mirela Filip, Helen Shaw

Publikováno v: Journal of Cystic Fibrosis. 7(5):423-428

Background Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene. Methods One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3657829bfbebc4ae7ce87da9542e00f4

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Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

Autor: John Painter, Geraldine Malone, Andrea Howarth, Joan Braganza, Nicholas H. Sharer, Martin Schwarz, Maurice Super

Publikováno v: New England Journal of Medicine. 339:645-652

The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more common than ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d591bbfdeb7406ec342d1b7d16863d4
https://doi.org/10.1056/nejm199809033391001

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Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

Autor: Martin Schwarz, Geraldine Malone, Andrea Haworth, Harry Cuppens, Maurice Super

Publikováno v: Human Mutation. 11:152-157

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfd828be1d4a218b50bf0a2c2ae8eae
https://doi.org/10.1002/(sici)1098-1004(1998)11:2<152::aid-humu8>3.0.co

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Active cascade testing for carriers of cystic fibrosis gene

Autor: Andrea Haworth, Martin Schwarz, Geraldine Malone, T. Roberts, Maurice Super, G. Dermody

Publikováno v: BMJ. 308:1462-1467

Objective : To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (cascade screening). Design : Paediatr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf7a5c80b5a2a314c51957412c71269
https://doi.org/10.1136/bmj.308.6942.1462

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Methods for Screening in Cystic Fibrosis

Autor: Geraldine Malone, Martin Schwarz

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Whites, with an incidence of approx 1 m 2500 live births and a carrier frequency of approx 1 in 25. Since the discovery of the cystic fibrosis transmembrane conductance re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6f230421b0e7c0d295f0b73dca17650
https://doi.org/10.1385/0-89603-346-5:99

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Cystic fibrosis mutations in Romania

Autor: Maurice Super, Z. Popa, G. Hambleton, Andrea Haworth, Martin Schwarz, I. Popa, Geraldine Malone, Liviu Pop

Publikováno v: European journal of pediatrics. 156(3)

We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method.Genetic an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6a82bae3d8fc0db45ed5314b4ada8b
https://pubmed.ncbi.nlm.nih.gov/9083763

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