Search Results - "Hoefsloot, Lies H."

Clinical and Genetic Characteristics of Late-onset Stargardt's Disease by Westeneng-van Haaften, Sarah C., MD, Boon, Camiel J.F., MD, PhD, Cremers, Frans P.M., PhD, Hoefsloot, Lies H., PhD, den Hollander, Anneke I., PhD, Hoyng, Carel B., MD, PhD

“…Objective To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1). Design Retrospective case series. Participants…”
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Mutation update on the CHD7 gene involved in CHARGE syndrome by Janssen, Nicole, Bergman, Jorieke E. H., Swertz, Morris A., Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M. W., van Ravenswaaij-Arts, Conny M. A., Hoefsloot, Lies H.

“…CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling…”
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia by Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M

“…High myopia (refractive error ≤ -6 diopters (D)) is a heterogeneous condition, and without clear accompanying features it can be difficult to pinpoint a…”
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome by Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
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Mutations in the pre-replication complex cause Meier-Gorlin syndrome by Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, van Bokhoven, Hans, Dean, John, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H, Kau, Nikolaus, Knoers, Nine V A M, MacKenzie, James, Opitz, John M, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P

“…Andrew Jackson, Ernie Bongers and colleagues report the identification of mutations in five genes in individuals with Meier-Gorlin syndrome. The five genes,…”
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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome by Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.

“…Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual…”
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment by SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO

“…Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In…”
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment by Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie

“…In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked…”
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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa by Siemiatkowska, Anna M., PhD, van den Born, L. Ingeborgh, MD, PhD, van Hagen, P. Martin, MD, PhD, Stoffels, Monique, MSc, Neveling, Kornelia, PhD, Henkes, Arjen, BSc, Kipping-Geertsema, Mieke, BSc, Hoefsloot, Lies H., PhD, Hoyng, Carel B., MD, PhD, Simon, Anna, MD, PhD, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, Collin, Rob W.J., PhD

“…Objective Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in…”
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 by Seco, Celia Zazo, Oonk, Anne M M, Domínguez-Ruiz, María, Draaisma, Jos M T, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P M, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald J E, Kremer, Hannie, Admiraal, Ronald J C, Schraders, Margit

“…In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by…”
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays by Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J

“…Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as glycogenosis type II (Pompe…”
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L1 retrotransposition can occur early in human embryonic development by van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.

“…L1 elements are autonomous retrotransposons that can cause hereditary diseases. We have previously identified a full-length L1 insertion in the CHM…”
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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? by van Zutven, Laura J. C. M, Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M, de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M, Hoefsloot, Lies H, Van Opstal, Diane, Srebniak, Malgorzata I

“…Abstract Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is…”
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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing by Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.

“…Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition…”
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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis by in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim

“…Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive…”
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment by Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive…”
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Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome by Bergman, Jorieke E.H., MD, Bocca, Gianni, MD, Hoefsloot, Lies H., MD, PhD, Meiners, Linda C., MD, PhD, van Ravenswaaij-Arts, Conny M.A., MD, PhD

“…Objective To test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (HH) in patients with CHARGE syndrome, which…”
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TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy by Hofstra, Julia M, Coenen, Marieke J H, Schijvenaars, Mascha M V A P, Berden, Jo H M, van der Vlag, Johan, Hoefsloot, Lies H, Knoers, Nine V A M, Wetzels, Jack F M, Nijenhuis, Tom

“…Activating mutations in the Transient Receptor Potential channel C6 (TRPC6) cause autosomal dominant focal segmental glomerular sclerosis (FSGS). TRPC6…”
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Social and medical need for whole genome high resolution NIPT by Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane

“…Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray…”
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The Immune Phenotype of Patients with CHARGE Syndrome by Hsu, Peter, MD, PhD, Ma, Alan, MD, Barnes, Elizabeth H., MStat, Wilson, Meredith, MD, PhD, Hoefsloot, Lies H., PhD, Rinne, Tuula, PhD, Munns, Craig, MD, PhD, Williams, George, MD, Wong, Melanie, MD, PhD, Mehr, Sam, MD

“…Background Recurrent sinopulmonary infections are common in children with CHARGE (Coloboma, Heart disease, choanal Atresia, growth/mental Retardation,…”
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