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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	S. Macaulay, N. Gregersen, A. Krause
स्वरूप:	लेख
भाषा:	English
प्रकाशित:	AOSIS 2012-06-01
श्रृंखला:	South African Family Practice
विषय:	cystic fibrosis genetic counselling doctor referrals at-risk relatives carrier testing
ऑनलाइन पहुंच:	https://safpj.co.za/index.php/safpj/article/view/1791

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Cystic Fibrosis Polymorphic Variants in a Russian Population
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Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era
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Defects of secretion in cystic fibrosis /
द्वारा: Schultz, Carsten
प्रकाशित: (2005)

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

Atypical cystic fibrosis diagnosed in a14-year-old boy
द्वारा: Iwona Stelmach, और अन्य
प्रकाशित: (2016-06-01)

Genetic pattern of cystic fibrosis patients in Azeri Turkish population
द्वारा: Morteza Jabarpoor-Bonyadi, और अन्य
प्रकाशित: (2017-03-01)

Genetic screening in cystic fibrosis
द्वारा: Chmiel James F, और अन्य
प्रकाशित: (2001-03-01)

Cystic fibrosis treatment; small molecule modulators vs genetic therapy
द्वारा: Salma Aly Elmallah, और अन्य
प्रकाशित: (2022-10-01)

Comparative microbiome analysis in cystic fibrosis and non-cystic fibrosis bronchiectasis.
द्वारा: Heryk Motta, और अन्य
प्रकाशित: (2024-05-01)

Genetic similarity of Burkholderia cenocepacia from cystic fibrosis patients
द्वारा: Luana Pretto, और अन्य
प्रकाशित: (2013-02-01)

Genetic similarity of Burkholderia cenocepacia from cystic fibrosis patients
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Genetic Examination of Children Suffering from Cystic Fibrosis
द्वारा: Ediba Saračević, और अन्य
प्रकाशित: (2005-02-01)

COVID-19 in a pregnant cystic fibrosis carrier with myasthenia gravis: A case report
द्वारा: John J. Coté, और अन्य
प्रकाशित: (2022-04-01)

A case of cystic fibrosis
द्वारा: Maria Alice Monti, और अन्य
प्रकाशित: (2009-09-01)

How are the ancient cystic fibrosis patients? Cystic fibrosis diagnosed over 60 years-old
द्वारा: C. Prados, और अन्य
प्रकाशित: (2017-01-01)

Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment
द्वारा: Malinda Wu, और अन्य
प्रकाशित: (2024-06-01)

Cystic fibrosis-related diabetes: optimizing care with a multidisciplinary approach
द्वारा: Frost F, और अन्य
प्रकाशित: (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
द्वारा: Leili Delfi Fallah, और अन्य
प्रकाशित: (2023-01-01)

Preimplantation genetic diagnosis for cystic fibrosis: a case report
द्वारा: Maria Cristina Santoro Biazotti, और अन्य

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द्वारा: Victoria R. Sanders, और अन्य
प्रकाशित: (2025-01-01)

Psychometric Properties of the Persian Version of Cystic Fibrosis Questionnaire: Revised in Children with Cystic Fibrosis
द्वारा: Naser Havaei, और अन्य
प्रकाशित: (2023-06-01)

Effectiveness and Safety of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Children With Cystic Fibrosis: A Meta-Analysis
द्वारा: Qiyu Li, और अन्य
प्रकाशित: (2022-06-01)

Satisfaction and Concerns with Telemedicine Endocrine Care of Patients with Cystic Fibrosis
द्वारा: Rahat Ahmed, और अन्य
प्रकाशित: (2022-03-01)

Pancreas and islet morphology in cystic fibrosis: clues to the etiology of cystic fibrosis-related diabetes
द्वारा: Sarah S. Malik, और अन्य
प्रकाशित: (2023-11-01)

An Update in Cystic Fibrosis-Related Diabetes in Children and Adolescents
द्वारा: Dana-Teodora Anton-Păduraru, और अन्य
प्रकाशित: (2023-11-01)

Cystic Fibrosis in Egyptian Children: Achievements and Future Directions
द्वारा: Mona M. El Falaki, और अन्य
प्रकाशित: (2021-01-01)

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India
द्वारा: Parmarth Chandane, और अन्य
प्रकाशित: (2025-03-01)

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द्वारा: Evelina Moliteo, और अन्य
प्रकाशित: (2022-08-01)

Factors Influencing Lung Function in Patients with Cystic Fibrosis in Western Romania
द्वारा: Dediu M, और अन्य
प्रकाशित: (2021-06-01)

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द्वारा: Sana Hasan, और अन्य
प्रकाशित: (2021-03-01)

Postural stability in patients with cystic fibrosis
द्वारा: Jarosław Prusak, और अन्य
प्रकाशित: (2018-09-01)

Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
द्वारा: Meltem Akgül Erdal, और अन्य
प्रकाशित: (2025-02-01)

GENETIC MARKERS OF LOW BONE MINERAL DENSITY IN PATIENTS WITH CYSTIC FIBROSIS.
द्वारा: Tatjana Jakovska, और अन्य
प्रकाशित: (2015-03-01)

Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors
द्वारा: Fernanda Iafusco, और अन्य
प्रकाशित: (2021-03-01)

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द्वारा: Jacob Vieira, और अन्य
प्रकाशित: (2022-10-01)

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द्वारा: Filippo Scialo, और अन्य
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द्वारा: Hacer Yeter, और अन्य
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द्वारा: Iwona Czerwińska Pawluk, और अन्य
प्रकाशित: (2019-03-01)