Uptake of genetic counselling services by patients with cystic fibrosis and their families

Uptake of genetic counselling services by patients with cystic fibrosis and their families

Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the im...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	S. Macaulay, N. Gregersen, A. Krause
Formatua:	Artikulua
Hizkuntza:	English
Argitaratua:	AOSIS 2012-06-01
Saila:	South African Family Practice
Gaiak:	cystic fibrosis genetic counselling doctor referrals at-risk relatives carrier testing
Sarrera elektronikoa:	https://safpj.co.za/index.php/safpj/article/view/1791

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Cystic Fibrosis Polymorphic Variants in a Russian Population
nork: Kiseleva A, et al.
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Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era
nork: Julie McGlynn, et al.
Argitaratua: (2023-07-01)

Defects of secretion in cystic fibrosis /
nork: Schultz, Carsten
Argitaratua: (2005)

Cystic fibrosis : everything you need to know /
nork: 192669 Kepron, Wayne
Argitaratua: (2003)

Atypical cystic fibrosis diagnosed in a14-year-old boy
nork: Iwona Stelmach, et al.
Argitaratua: (2016-06-01)

Genetic pattern of cystic fibrosis patients in Azeri Turkish population
nork: Morteza Jabarpoor-Bonyadi, et al.
Argitaratua: (2017-03-01)

Genetic screening in cystic fibrosis
nork: Chmiel James F, et al.
Argitaratua: (2001-03-01)

Cystic fibrosis treatment; small molecule modulators vs genetic therapy
nork: Salma Aly Elmallah, et al.
Argitaratua: (2022-10-01)

Comparative microbiome analysis in cystic fibrosis and non-cystic fibrosis bronchiectasis.
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Argitaratua: (2024-05-01)

Telemedicine in cystic fibrosis
nork: Marisa E. Desimone, et al.
Argitaratua: (2021-12-01)

Genetic similarity of Burkholderia cenocepacia from cystic fibrosis patients
nork: Luana Pretto, et al.
Argitaratua: (2013-02-01)

Genetic similarity of Burkholderia cenocepacia from cystic fibrosis patients
nork: Luana Pretto, et al.

Genetic Examination of Children Suffering from Cystic Fibrosis
nork: Ediba Saračević, et al.
Argitaratua: (2005-02-01)

COVID-19 in a pregnant cystic fibrosis carrier with myasthenia gravis: A case report
nork: John J. Coté, et al.
Argitaratua: (2022-04-01)

A case of cystic fibrosis
nork: Maria Alice Monti, et al.
Argitaratua: (2009-09-01)

How are the ancient cystic fibrosis patients? Cystic fibrosis diagnosed over 60 years-old
nork: C. Prados, et al.
Argitaratua: (2017-01-01)

Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment
nork: Malinda Wu, et al.
Argitaratua: (2024-06-01)

Cystic fibrosis-related diabetes: optimizing care with a multidisciplinary approach
nork: Frost F, et al.
Argitaratua: (2019-04-01)

Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province
nork: Leili Delfi Fallah, et al.
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Obesity in cystic fibrosis
nork: Katherine A. Kutney, et al.
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Case Report: The importance of genetic counseling for families with hyperinsulinism
nork: Victoria R. Sanders, et al.
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Preimplantation genetic diagnosis for cystic fibrosis: a case report
nork: Maria Cristina Santoro Biazotti, et al.

Psychometric Properties of the Persian Version of Cystic Fibrosis Questionnaire: Revised in Children with Cystic Fibrosis
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nork: Qiyu Li, et al.
Argitaratua: (2022-06-01)

Satisfaction and Concerns with Telemedicine Endocrine Care of Patients with Cystic Fibrosis
nork: Rahat Ahmed, et al.
Argitaratua: (2022-03-01)

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Argitaratua: (2023-11-01)

An Update in Cystic Fibrosis-Related Diabetes in Children and Adolescents
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Argitaratua: (2023-11-01)

Cystic Fibrosis in Egyptian Children: Achievements and Future Directions
nork: Mona M. El Falaki, et al.
Argitaratua: (2021-01-01)

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India
nork: Parmarth Chandane, et al.
Argitaratua: (2025-03-01)

Cystic Fibrosis and Oxidative Stress: The Role of CFTR
nork: Evelina Moliteo, et al.
Argitaratua: (2022-08-01)

Factors Influencing Lung Function in Patients with Cystic Fibrosis in Western Romania
nork: Dediu M, et al.
Argitaratua: (2021-06-01)

Managing Cystic Fibrosis related diabetes via telehealth during COVID-19 pandemic
nork: Sana Hasan, et al.
Argitaratua: (2021-03-01)

Postural stability in patients with cystic fibrosis
nork: Jarosław Prusak, et al.
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Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
nork: Meltem Akgül Erdal, et al.
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Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors
nork: Fernanda Iafusco, et al.
Argitaratua: (2021-03-01)

GENETIC MARKERS OF LOW BONE MINERAL DENSITY IN PATIENTS WITH CYSTIC FIBROSIS.
nork: Tatjana Jakovska, et al.
Argitaratua: (2015-03-01)

INSIGHTS INTO CLINICO-MORPHOLOGICAL FEATURES AND MANAGEMENT OF CYSTIC FIBROSIS
nork: Mioara-Florentina Trandafirescu, et al.
Argitaratua: (2017-07-01)

Supplemental Oxygen Alters the Airway Microbiome in Cystic Fibrosis
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Italian national survey on molecular epidemiology of Pseudomonas aeruginosa from pulmonary infection of Cystic Fibrosis patients
nork: Graziana Manno, et al.
Argitaratua: (2011-06-01)

Lung Microbiome in Cystic Fibrosis
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