Publications by authors named "Karen Fieggen"

25Publications

Renal disease in Cockayne syndrome.

Eur J Med Genet 2020 Jan 7;63(1):103612. Epub 2019 Jan 7.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.002DOI Listing
January 2020

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

Semin Pediatr Neurol 2018 07 4;26:10-14. Epub 2017 Apr 4.

Division of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1016/j.spen.2017.03.002DOI Listing
July 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

S Afr Med J 2017 Apr 25;107(5):457-462. Epub 2017 Apr 25.

MRC Human Genetics Research Unit, Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2017.v107i5.9461DOI Listing
April 2017

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Fam Cancer 2017 07;16(3):441-446

Division of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa.

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http://dx.doi.org/10.1007/s10689-017-9968-yDOI Listing
July 2017

Novel mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

J Med Genet 2016 Nov 22;53(11):776-785. Epub 2016 Jun 22.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2015-103695DOI Listing
November 2016

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

S Afr Med J 2016 Feb 4;106(3):272-5. Epub 2016 Feb 4.

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, South Africa; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i3.9476DOI Listing
February 2016

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

J Pediatr Surg 2016 Feb 5;51(2):268-71. Epub 2015 Nov 5.

Division of Paediatric Surgery, University of Stellenbosch, Tygerberg, Western Cape Tygerberg.

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http://dx.doi.org/10.1016/j.jpedsurg.2015.10.070DOI Listing
February 2016

Implications of direct-to-consumer whole-exome sequencing in South Africa.

S Afr Med J 2016 Jan 12;106(2):139-40. Epub 2016 Jan 12.

Southern African Society for Human Genetics, Johannesburg, South Africa; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i2.10534DOI Listing
January 2016

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

Eur J Med Genet 2013 Jan 17;56(1):20-5. Epub 2012 Oct 17.

Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, South Africa.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.010DOI Listing
January 2013

The burden of sickle cell disease in Cape Town.

S Afr Med J 2012 Jun 28;102(9):752-4. Epub 2012 Jun 28.

Department of Clinical Laboratory Sciences, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.7196/samj.5886DOI Listing
June 2012

Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva.

S Afr Med J 2012 May 8;102(7):631-3. Epub 2012 May 8.

Faculty of Health Sciences, University of Cape Town Medical School, South Africa.

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http://dx.doi.org/10.7196/samj.5519DOI Listing
May 2012

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport.

J Genet Couns 2010 Dec 8;19(6):545-8. Epub 2010 Sep 8.

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1007/s10897-010-9320-2DOI Listing
December 2010

Clinical phenotype of South African children with neurofibromatosis 1.

J Child Neurol 2006 Jan;21(1):63-70

Department of Paediatric Neurology, Red Cross Children's Hospital and School of Child and Adolescent Health, University of Cape Town, South Africa.

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http://dx.doi.org/10.1177/08830738060210011501DOI Listing
January 2006

Orthodontic management of achondroplasia in South Africa.

S Afr Med J 2005 Aug;95(8):588-9

Faculty of Dentistry, University of the Western Cape.

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August 2005