Search Results - "Admiraal, J."

The missing pillar: Eudemonic values in the justification of nature conservation by van den Born, Riyan J.G., Arts, B., Admiraal, J., Beringer, A., Knights, P., Molinario, E., Horvat, K. Polajnar, Porras-Gomez, C., Smrekar, A., Soethe, N., Vivero-Pol, J.L., Ganzevoort, W., Bonaiuto, M., Knippenberg, L., De Groot, W.T.

“…The public justification for nature conservation currently rests on two pillars: hedonic (instrumental) values, and moral values. Yet, these representations…”
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Distress, problems, referral wish, and supportive health care use in breast cancer survivors beyond the first year after chemotherapy completion by Admiraal, J. M., Hoekstra-Weebers, J. E. H. M., Schröder, C. P., Tuinier, W., Hospers, G. A. P., Reyners, Anna K. L.

“…Purpose We examined distress levels, problems, referral wish, and supportive health care use in a cross-sectional group of breast cancer survivors at two-time…”
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Biosynthesis of Complex Polyketides in a Metabolically Engineered Strain of E. coli by Pfeifer, Blaine A., Admiraal, Suzanne J., Gramajo, Hugo, Cane, David E., Khosla, Chaitan

“…The macrocyclic core of the antibiotic erythromycin, 6-deoxyerythronolide B (6dEB), is a complex natural product synthesized by the soil bacterium…”
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Cancer patients' referral wish: effects of distress, problems, socio-demographic and illness-related variables and social support sufficiency by Admiraal, J. M., van Nuenen, F. M., Burgerhof, J. G. M., Reyners, A. K. L., Hoekstra-Weebers, J. E. H. M.

“…Background The present study's aim was to examine effects of cancer patients' perceived distress and problems, socio‐demographic and illness‐related variables…”
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene by Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

“…Background: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and…”
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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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Do cancer and treatment type affect distress? by Admiraal, J. M., Reyners, A. K. L., Hoekstra-Weebers, J. E. H. M.

“…Objective We examined differences in distress levels and Distress Thermometer (DT) cutoff scores between different cancer types. The effect of…”
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Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human by Noben-Trauth, Konrad, Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S, Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C, Neely, Harold R, Latoche, Joseph R, Smith, Richard J. H, Northup, John K, Kremer, Hannie, Holt, Jeffrey R

“…Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here,…”
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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction by Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L.M., Strom, Tim M., van Wijk, Erwin, Kunst, Henricus P.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Admiraal, Ronald J.C., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with…”
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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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Structure and Functional Analysis of RifR, the Type II Thioesterase from the Rifamycin Biosynthetic Pathway by Claxton, Heather B., Akey, David L., Silver, Monica K., Admiraal, Suzanne J., Smith, Janet L.

“…Two thioesterases are commonly found in natural product biosynthetic clusters, a type I thioesterase that is responsible for removing the final product from…”
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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss by Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd

“…We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss…”
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Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations by Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.

“…In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We…”
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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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The loss of biodiversity conservation in EU research programmes: Thematic shifts in biodiversity wording in the environment themes of EU research programmes FP7 and Horizon 2020 by Admiraal, J.F., Musters, C.J.M., de Snoo, G.R.

“…Society has been seeking ways to express biodiversity's value to stimulate its protection. Economic valuation of ecosystem services has had limited success to…”
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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans by Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.

“…Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is…”
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Ras-Catalyzed Hydrolysis of GTP: A New Perspective from Model Studies by Maegley, Karen A., Admiraal, Suzanne J., Herschlag, Daniel

“…Despite the biological and medical importance of signal transduction via Ras proteins and despite considerable kinetic and structural studies of wild-type and…”
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Patients with Pendred syndrome: is cochlear implantation beneficial? by van Nierop, J.W.I., Huinck, W.J., Pennings, R.J.E., Admiraal, R.J.C., Mylanus, E.A.M., Kunst, H.P.M.

“…Objective To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. Design Retrospective study. Setting Tertiary centre. Participants…”
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Causes of permanent childhood hearing impairment by Korver, Anna M.H., Admiraal, Ronald J.C., Kant, Sarina G., Dekker, Friedo W., Wever, Capi C., Kunst, Henricus P.M., Frijns, Johan H.M., Oudesluys -Murphy, Anne Marie

“…Introduction: The causes of Permanent Childhood Hearing Impairment (PCHI) are often quoted as being hereditary in 50%, acquired in 25%, and unknown in 25% of…”
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