Search Results - "Maas, S M"

Treatment of patients with rare bleeding disorders in the Netherlands: Real‐life data from the RBiN study by Maas, Dominique P. M. S. M., Saes, Joline L., Blijlevens, Nicole M. A., Cnossen, Marjon H., den Exter, Paul L., Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Peters, Marjolein, Schutgens, Roger E. G., Heerde, Waander L., Schols, Saskia E. M.

“…Background Patients with rare inherited bleeding disorders (RBDs) exhibit hemorrhagic symptoms, varying in type and severity, often requiring only on‐demand…”
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Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al by Maas, Dominique P. M. S. M., Heerde, Waander L., Schols, Saskia E. M.

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Von Willebrand disease type 2M: Correlation between genotype and phenotype by Maas, Dominique P. M. S. M., Atiq, Ferdows, Blijlevens, Nicole M. A., Brons, Paul P. T., Krouwel, Sandy, Laros‐van Gorkom, Britta A. P., Leebeek, Frank W. G., Nieuwenhuizen, Laurens, Schoormans, Selene C. M., Simons, Annet, Meijer, Daniëlle, Heerde, Waander L., Schols, Saskia E. M.

“…Background An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory…”
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A genome-wide DNA methylation signature for SETD1B-related syndrome by Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M

“…SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic…”
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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics by Krzyzewska, I M, Alders, M, Maas, S M, Bliek, J, Venema, A, Henneman, P, Rezwan, F I, Lip, K V D, Mul, A N, Mackay, D J G, Mannens, M M A M

“…Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is…”
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Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts by Timmerman, E., Pajkrt, E., Maas, S. M., Bilardo, C. M.

“…Objectives The aim of this study was to investigate whether there is an association between enlarged nuchal translucency (NT) and orofacial clefts. Methods The…”
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Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome by Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, Raoul C M

“…Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In…”
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Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature by Kadouch, D.J.M, Maas, S.M, Dubois, L, van der Horst, C.M.A.M

“…Abstract Macroglossia is observed in the majority of paediatric patients diagnosed with Beckwith–Wiedemann syndrome and surgical treatment may be indicated. A…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions by Bliek, J, Snijder, S, Maas, S.M, Polstra, A, van der Lip, K, Alders, M, Knegt, A.C, Mannens, M.M.A.M

“…Abstract We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In…”
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Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review by Stor, M. L. E., Horbach, S. E. R., Lokhorst, M. M., Tan, E., Maas, S. M., Noesel, C. J. M., van der Horst, C. M. A. M.

“…Vascular malformations (VMs) are clinically diverse with regard to the vessel type, anatomical location, tissue involvement and size. Consequently, symptoms…”
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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases by Novara, Francesca, Rinaldi, Berardo, Sisodiya, Sanjay M, Coppola, Antonietta, Giglio, Sabrina, Stanzial, Franco, Benedicenti, Francesco, Donaldson, Alan, Andrieux, Joris, Stapleton, Rachel, Weber, Astrid, Reho, Paolo, van Ravenswaaij-Arts, Conny, Kerstjens-Frederikse, Wilhelmina S, Vermeesch, Joris Robert, Devriendt, Koenraad, Bacino, Carlos A, Delahaye, Andrée, Maas, S M, Iolascon, Achille, Zuffardi, Orsetta

“…16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive…”
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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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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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Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study by Doornbos, Marianne E., Maas, Saskia M., McDonnell, Joseph, Vermeiden, Jan P.W., Hennekam, Raoul C.M.

“…BACKGROUND Evaluation of relationships between assisted reproduction technologies (ART), fertility problems and disorders caused by disturbed genetic…”
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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

“…Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability…”
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Influence of the 20‐week anomaly scan on prenatal diagnosis and management of fetal facial clefts by Ensing, S., Kleinrouweler, C. E., Maas, S. M., Bilardo, C. M., Van der Horst, C. M. A. M., Pajkrt, E.

“…ABSTRACT Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate…”
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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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Evaluation of brucellosis by PCR and persistence after treatment in patients returning to the hospital for follow-up by Maas, Kathlène S J S M, Méndez, Melissa, Zavaleta, Milagros, Manrique, Jennie, Franco, María Pía, Mulder, Maximilian, Bonifacio, Nilo, Castañeda, Maria L, Chacaltana, Jesús, Yagui, Elena, Gilman, Robert H, Guillen, Alfredo, Blazes, David L, Espinosa, Benjamin, Hall, Eric, Abdoel, Theresia H, Smits, Henk L

“…Polymerase chain reaction (PCR) was applied to confirm the diagnosis of brucellosis and to study its clearance in response to the standard treatment regimen…”
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Oncological implications of RET gene mutations in Hirschsprung’s disease by Sijmons, R H, Hofstra, R M W, Wijburg, F A, Links, T P, Zwierstra, R P, Vermey, A, Aronson, D C, Tan-Sindhunata, G, Brouwers-Smalbraak, G J, Maas, S M, Buys, C H C M

“…Background—Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A…”
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