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Browsing by Author "Fieggen, Karen"

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A clinical and molecular investigation of two families with Simpson-Golabi-Behmel syndrome

Author: Pretorius, Careni Elizabeth Date: 2014 Includes abstract (p. 30-32). Includes bibliographical references. Read more
Cohort Profile: The Western Cape Pregnancy Exposure Registry (WCPER)

Author: Kalk, Emma ; Heekes, Alexa ; Slogrove, Amy ; Phelanyane, Florence ; Davies, Mary-Ann ; Myer, Landon ; Euvrard, Jonathan ; Kroon, Max ; Petro, Greg ; Fieggen, Karen ; Stewart, Chantal ; Rhoda, Natasha ; Gebhardt, Stefan ; Osman, Ayesha ; Anderson, Kim ; Boulle, Andrew ; Mehta, Ushma Date: Jun 2022 Purpose: The Western Cape Pregnancy Exposure Registry (PER) was established at two public sector healthcare sentinel sites in the Western Cape province, South Africa, to provide ongoing surveillance of drug exposures in pregnancy and associations ... Read more c b
Craniosynostosis in a South Africa population

Author: Crous, Ilse Date: 2021 Background: Craniosynostosis refers to the premature fusion of calvarial bones which lead to restricted growth potential. Compensatory growth occurs in the dimensions not restricted by fusion and causes progressive distortion in the skull ... Read more
Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality

Author: Malope, Malebo Felicia Date: 2018 Background: A weekly pregnancy counselling clinic is held in conjunction with foetal medicine experts at Groote Schuur Hospital for women with pregnancies complicated by foetal anomalies. In cases with poor prognoses, termination of pregnancy ... Read more
Investigating the views and expectations of pregnant women who undergo genetic counselling for age-related risk of aneuploidy

Author: Vorster, Nina Date: 2020 Background: Pregnancy at advanced maternal age (AMA) is associated with an increased risk of aneuploidy. In the Western Cape's public health sector maternal age alone is widely used to screen women for high risk of pregnancies affected by ... Read more
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Author: Schlogel, Matthieu ; Mendola, Antonella ; Fastre, Elodie ; Vasudevan, Pradeep ; Devriendt, Koen ; de Ravel, Thomy ; Van Esch, Hilde ; Casteels, Ingele ; Arroyo Carrera, Ignacio ; Cristofoli, Francesca ; Fieggen, Karen ; Jones, Katheryn ; Lipson, Mark ; Balikova, Date: 2015 BACKGROUND:Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated ... Read more c b
Orthodontic management of achondroplasia in South Africa

Author: Stephen, Lawrence ; Holmes, Haly ; Roberts, Tina ; Fieggen, Karen ; Beighton, Peter Date: 2005 Achondroplasia is a relatively common genetic skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Characteristic craniofacial features include a prominent forehead, depressed nasal bridge and maxillary ... Read more
Significance of connexion genes in non-syndromic deafness in Africans

Author: Bosch, Jason Date: 2013 Includes abstract. Includes bibliographical references. Read more
The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations

Author: Muchada, Irene Farisai Date: 2019 Background: Precision Medicine (PM) is a model whose goal is to tailor healthcare to meet the individual patient’s treatment and management needs. Precision Management of Epilepsy in South African Children (PME) is an on-going study at the ... Read more

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Browsing by Author "Fieggen, Karen"

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