Browsing Research Articles (Genetics) by UP Author "Honey, Engela M."

Browsing Research Articles (Genetics) by UP Author "Honey, Engela M."

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  • Case report of sudden death in a child with Williams syndrome following administration of anaesthesia 
    Du Toit-Prinsloo, Lorraine; Dippenaar, Johannes Marthinus (Tinus); Honey, Engela M. (Taylor and Francis, 2015-04)
    Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most ...
  • Cornelia de Lange syndrome in diverse populations 
    Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela M.; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Ferreira, Carlos R.; Kisling, Monisha S.; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Batista, Leticia Cassimiro; Moretti-Ferreira, Danilo; Stevenson, Roger E.; Prijoles, Eloise J.; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; Clark, Robin D.; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne; Dave, Usha; Shalev, Stavit; Siu, Victoria; Ades, Ann; Dubbs, Holly; Raible, Sarah; Kaur, Maninder; Salzano, Emanuela; Jackson, Laird; Deardorff, Matthew; Kline, Antonie; Summar, Marshall; Muenke, Maximilian; Linguraru, Marius George; Krantz, Ian D. (Wiley, 2019-02)
    Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched ...
  • A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension : a case report 
    Karolak, Justyna A.; Gambin, Tomasz; Honey, Engela M.; Slavik, Tomas; Popek, Edwina; Stankiewicz, Paweł (BioMed Central, 2020-03-06)
    BACKGROUND : Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single ...
  • Holoprosencephaly with clefts : data of 85 patients, treatment and outcome : Part 1 : History, subdivisions, and data on 85 holoprosencephalic cleft patients 
    Honey, Engela M.; Butow, Kurt-Wilhelm; Zwahlen, Roger Arthur (Medknow Publications, 2019-01)
    Cleft patients with Holoprosencephaly (HPE) constitute a controversy due to a variable facial appearance. HPE appearance varies from only a columella to a prolabium‑premaxilla complex agenesis up to a common unilateral ...
  • Inspiratory muscle training in severe spinal muscular atrophy : a case report 
    Human, Anri; Honey, Engela M.; Morrow, Brenda (Mark Allen Healthcare Limited, 2019-05)
    BACKGROUND/AIMS : Inspiratory muscle training aims to preserve or improve respiratory muscle strength in children with neuromuscular diseases in order to prevent or minimise pulmonary morbidity. The aim of this study was ...
  • A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency 
    Van der Westhuizen, Francois H.; Smuts, Izelle; Honey, Engela M.; Louw, Roan; Schoonen, Maryke; Jonck, Lindi-Maryn; Dercksen, Marli (Elsevier, 2018-01)
    Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including ...
  • Osteogenesis imperfecta type 3 in South Africa : causative mutations in FKBP10 
    Honey, Engela M.; Vorster, A.; Beighton, P.; Chetty, M.; Ganie, Y.; Henderson, B.; MAre, P.; Thompson, D.; Fieggen, K.; Viljoen, D.; Ramesar, R. (Health and Medical Publishing Group, 2017-05)
    BACKGROUND : A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely ...
  • Pena–Shokeir syndrome : current management strategies and palliative care 
    Adam, Sumaiya; Coetzee, Melantha; Honey, Engela M. (Dove Medical Press, 2018)
    Pena–Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased ...
  • The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 
    Nikkel, Sarah M.; Dauber, Andrew; De Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Da Cunha, Bruna Santos; Delaney, Louisa A.; Destree, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.C.; Heron, Delphine; Hoischen, Alexander; Honey, Engela M.; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V.A.M.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.M.; Lucas, Luiza S.; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sa, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen E.H.; Slavotinek, Anne; Temple, I. Karen; Van der Burgt, Ineke; De Vries, Bert B.A.; Weisfeld-Adams, James D.; Whiteford, Margo L.; Wit, Jan M.; Yee, Connie Fung On; Beaulieu, Chandree L.; FORGE Canada Consortium; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013-04-27)
    BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP ...
  • Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorder 
    Honey, Engela M. (Health and Medical Publishing Group, 2016-06)
    Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural ...
  • Three new families with recurrent male miscarriages and hypercoiled umbilical cord 
    Hoffman, Jodi D.; Kleeman, Linda; Kennelly, Kelley; Honey, Engela M.; Reardon, William (Lippincott Williams and Wilkins, 2015-07)
    No abstract available.
  • Williams–Beuren syndrome in diverse populations 
    Kruszka, Paul.; Porras, Antonio R.; De Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D.; Boyle, Alec P.; Hu, Tommy; Addissie, Yonit A.; Mok, Gary T.K.; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, E.J.; Tanpaiboon, Pranoot; Honey, Engela M.; El Ruby, Mona O.; Ho-Ming, Luk; Lo, Ivan F.M.; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L.; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M.; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Paththinige, C. Sampath; Mishra, Rupesh; Kisling, Monisha S.; Ferreira, Carlos R.; De Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S.; Lai, Angeline; Shien, Tan Ee; Lim, Jiin Ying; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O.; Ashaat, Engy A.; Patil, Siddaramappa J.; Dowsett, Leah; Eaton, Alison; Innes, A.Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H.Y.; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barrig, Hugo Hernán; Megarbane, Andre; Kozel, Beth A.; Stevenson, Roger E.; Summar, Marshall; Adeyemo, Adeyemo A.; Morris, Colleen A.; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian (Wiley, 2018-05)
    Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention ...