Search Results - "Feenstra, I."

Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies by Beulen, L., Faas, B. H. W., Feenstra, I., van Vugt, J. M. G., Bekker, M. N.

“…ABSTRACT Objective To evaluate the application of non‐invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies…”
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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases by Velde, Hedwig M., Vaseghi-Shanjani, Maryam, Smits, Jeroen J., Ramakrishnan, Gayatri, Oostrik, Jaap, Wesdorp, Mieke, Astuti, Galuh, Yntema, Helger G., Hoefsloot, Lies, Lanting, Cris P., Huynen, Martijn A., Lehman, Anna, Turvey, Stuart E., Pennings, Ronald J. E., Kremer, Hannie

“…Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical…”
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse by Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., van Dooren, M.F., de Gier, H.H.W., Hoefsloot, E.H., van der Schroeff, M.P., Kant, S.G., Rotteveel, L.J.C., Frints, S.G.M., Hof, J.R., Stokroos, R.J., Vanhoutte, E.K., Admiraal, R.J.C., Feenstra, I., Kremer, H., Kunst, H.P.M., Pennings, R.J.E., Yntema, H.G., van Essen, A.J., Free, R.H., Klein-Wassink, J.S., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie

“…In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing…”
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The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis by Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei-Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H. W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin-ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J. H., Pennings, Ronald, Liu, Xue Zhong

“…TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies…”
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Globozoospermia revisited by Dam, A.H.D.M., Feenstra, I., Westphal, J.R., Ramos, L., van Golde, R.J.T., Kremer, J.A.M.

“…Globozoospermia is a rare (incidence <0.1%) but severe disorder in male infertility. Total globozoospermia is diagnosed by the presence of 100% round-headed…”
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“…Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct…”
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Genotype phenotype correlations for hearing impairment: Approaches to management by Hoefsloot, L. H., Feenstra, I., Kunst, H. P. M., Kremer, H.

“…Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in…”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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P01.07: The clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies by Beulen, L., Faas, B., Feenstra, I., Vugt, J.M., Bekker, M.N.

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Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study by Fehrmann, M L A, Huinck, W J, Thijssen, M E G, Haer-Wigman, L, Yntema, H G, Rotteveel, L J C, Widdershoven, J C C, Goderie, T, van Dooren, M F, Hoefsloot, E H, van der Schroeff, M P, Mylanus, E A M, Lanting, C P, Pennings, R J E

“…The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor…”
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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy by Wesdorp, M., Schreur, V., Beynon, A.J., Oostrik, J., van de Kamp, J.M., Elting, M.W., van den Boogaard, M.‐J.H., Feenstra, I., Admiraal, R.J.C., Kunst, H.P.M., Hoyng, C.B., Kremer, H., Yntema, H.G., Pennings, R.J.E., Schraders, M.

“…This study focuses on further characterization of the audiovestibular phenotype and on genotype‐phenotype correlations of DFNB77, an autosomal recessive type…”
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OP08.01: The effect of a decision aid on informed decision making in the era of non‐invasive prenatal testing: a randomised controlled trial by Beulen, L., Berg, M., Faas, B., Feenstra, I., Hageman, M., Vugt, J.M., Bekker, M.N.

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Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress by Sie, A.S., Prins, J.B., van Zelst-Stams, W.A.G., Veltman, J.A., Feenstra, I., Hoogerbrugge, N.

“…The Radboud University Medical Center was among the first to implement two‐step exome sequencing in clinical genetic diagnostics. This study is the first to…”
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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome by Feberwee, H.E., Feenstra, I., Oberoi, S., Sama, I.E., Ockeloen, C.W., Clum, F., Slavotinek, A., Kuijpers, M.A.R., Dooijes, D., Kuijpers-Jagtman, A.M., Kleefstra, T., Carels, C.E.L.

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P-711 - Genetic syndromes and the autism spectrum by Verhoeven, W.M.A, Egger, J.I.M, Feenstra, I

“…Introduction Autistic features are present in a variety of genetic syndromes and have stimulated research into the genetic underpinnings of autism spectrum…”
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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction by Wesdorp, Mieke, de Koning Gans, Pia A. M., Schraders, Margit, Oostrik, Jaap, Huynen, Martijn A., Venselaar, Hanka, Beynon, Andy J., van Gaalen, Judith, Piai, Vitória, Voermans, Nicol, van Rossum, Michelle M., Hartel, Bas P., Lelieveld, Stefan H., Wiel, Laurens, Verbist, Berit, Rotteveel, Liselotte J., van Dooren, Marieke F., Lichtner, Peter, Kunst, Henricus P. M., Feenstra, Ilse, Admiraal, Ronald J. C., Yntema, Helger G., Hoefsloot, Lies H., Pennings, Ronald J. E., Kremer, Hannie

“…Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous…”
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P-713 - A de novo microdeletion in chromosome 8q12.3q13.2: association with mild intellectual disability and epilepsy? by Verhoeven, W.M.A, Egger, J.I.M, Feenstra, I, De Leeuw, N

“…Introduction Whole genome microarray techniques are a primary tool for the etiological assessment in patients with intellectual disabilities. As a result,…”
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W01-01 - From karyotype to targeted microarray by Feenstra, I, Van Bon, B.W, Koolen, D.A, Pfundt, R, Kleefstra, T, De Leeuw, N

“…Introduction Routine microscopic karyotyping is an important part of the diagnostic work-up in patients with multiple congenital anomalies (MCA) and/or…”
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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities by Feenstra, I., Fang, J., Koolen, D.A., Siezen, A., Evans, C., Winter, R.M., Lees, M.M., Riegel, M., de Vries, B.B.A., Van Ravenswaaij, C.M.A., Schinzel, A.

“…During recent years a considerable improvement in diagnostic techniques has enabled cytogeneticists to find more and smaller chromosomal aberrations. However,…”
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Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage by Feenstra, I, Brunner, H G, van Ravenswaaij, C M A

“…High-resolution molecular cytogenetic techniques such as genomic array CGH and MLPA detect submicroscopic chromosome aberrations in patients with unexplained…”
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