Výsledky vyhledávání - "Candice Feben"

Akademický článek

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

Autor: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in t

Externí odkaz: https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6

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Akademický článek

Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

Autor: Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium

Publikováno v: Clinical Case Reports, Vol 9, Iss 4, Pp 2144-2148 (2021)

Abstract First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

Externí odkaz: https://doaj.org/article/7ec379912cc04cc5a5d8f731fde59cfa

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Akademický článek

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

Autor: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje vanRij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Abstract Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the unde

Externí odkaz: https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418

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Akademický článek

Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation

Autor: Bronwyn Dillon, Candice Feben, David Segal, Johannes duPlessis, David Reynders, Rosalind Wainwright, Janet Poole, Amanda Krause

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Abstract Background Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifest

Externí odkaz: https://doaj.org/article/4ed44326b2f8437bbbf21b5e88f7f082

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A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained Environments

Autor: Robyn Kerr, Zané Lombard, Patracia Nevondwe, Careni Spencer, Amanda Krause, Candice Feben, Nadia Carstens, Maria Mabyalwa Mudau, Heather Seymour

BackgroundThe timeous and accurate diagnosis of rare genetic disorders is critical, as it enables a better understanding of patient management, prognosis and more personalized treatment. A confirmed genetic diagnosis also enables accurate genetic cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3f062c4a90aa114f487457710b9dd7d
https://doi.org/10.21203/rs.3.rs-857929/v1

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Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy

Autor: Maartje van Rij, Aline Verstraeten, Bart Loeys, Candice Feben, Maaike Alaerts, Marlies Kempers, Willy Hendson, Koenraad Devriendt, Josephina A.N. Meester, Luc De Catte, Mallory Woiski, Marcella Baldewijns, Jotte Rodrigues Bento

Publikováno v: Molecular Genetics & Genomic Medicine, 9
Molecular Genetics & Genomic Medicine, 9, 10
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the underlying pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8af079d4398e043c3f96d8180b389ec
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244116

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Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation

Autor: David Segal, Rosalind Wainwright, Johannes du Plessis, Janet Poole, David Reynders, Amanda Krause, Candice Feben, Bronwyn Dillon

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Background Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd1b99a53740dec2cf91f7e16f80b82
http://europepmc.org/articles/PMC7434606

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Fanconi anaemia in South Africa: Past present and future

Autor: Fahmida B. Essop, Tasha Wainstein, Amanda Krause, J. G. R. Kromberg, Candice Feben

Publikováno v: South African Medical Journal, Vol 108, Iss 5, Pp 393-398 (2018)
SAMJ: South African Medical Journal, Volume: 108, Issue: 5, Pages: 393-398, Published: MAY 2018
South African Medical Journal; Vol 108, No 5 (2018); 393-398

Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2c4391f9800bd8d0b46c633c1b6507
http://www.samj.org.za/index.php/samj/article/download/12285/8471

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Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling

Autor: J. G. R. Kromberg, Amanda Krause, Candice Feben, Andrew McDonald

Publikováno v: South African Journal of Surgery; Vol 56, No 3 (2018); 30-33
South African Journal of Surgery, Volume: 56, Issue: 3, Pages: 30-33, Published: SEP 2018

Summary: We present a case of a young female patient diagnosed clinically and molecularly with V-EDS and briefly review the published literature on this severe condition. Additionally, the case is used to highlight the need for early confirmation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee89337fbd7138770ed60cb76b2ec91a
https://www.ajol.info/index.php/sajs/article/view/178547

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Fanconi anaemia in South African patients with Afrikaner ancestry

Autor: Christopher Sutton, Candice Feben, C Jacobs, Tabitha Haw, David K Stones, Jennifer G.R. Kromberg, Amanda Krause

Publikováno v: South African Journal of Child Health, Volume: 11, Issue: 3, Pages: 141-145, Published: OCT 2017
South African Journal of Child Health; Vol 11, No 3 (2017); 141-145
South African Journal of Child Health, Vol 11, Iss 3, Pp 141-145 (2017)

Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99132ae3a62f4dcb7d084b85c5d1e4ed
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S1999-76712017000300008&lng=en&tlng=en

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