Search Results - "Hoogeboom, Jeannette A M"

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis by Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M

“…Andrew Wilkie and colleagues report that mutations in TCF12 cause coronal craniosynostosis. They found heterozygous mutations in 38 unrelated families…”
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Human mutations in integrator complex subunits link transcriptome integrity to brain development by Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M, Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A Jeannette M, Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H, van Slegtenhorst, Marjon, Dobyns, William B, de Coo, Irenaeus F M, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S

“…Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription…”
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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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Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders by Leslie, Elizabeth J., O'Sullivan, James, Cunningham, Michael L., Singh, Ankur, Goudy, Steven L., Ababneh, Faroug, Alsubaie, Lamia, Ch'ng, Gaik-Siew, van der Laar, Ingrid M. B. H., M. Hoogeboom, A. Jeannette, Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.

“…The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have…”
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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene by Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.

“…We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short…”
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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

“…Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have…”
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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability by Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

“…Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously…”
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay by Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

“…PREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different…”
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Preaxial polydactyly of the foot: Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients by Burger, Elise B, Baas, Martijn, Hovius, Steven E R, Hoogeboom, A Jeannette M, van Nieuwenhoven, Christianne A

“…Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and…”
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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria by Hagen, Jacob, te Brinke, Heleen, Wanders, Ronald J. A., Knegt, Alida C., Oussoren, Esmee, Hoogeboom, A. Jeannette M., Ruijter, George J. G., Becker, Daniel, Schwab, Karl Otfried, Franke, Ingo, Duran, Marinus, Waterham, Hans R., Sass, Jörn Oliver, Houten, Sander M.

“…Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1…”
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Maas, Saskia M, Shaw, Adam C, Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R, Cobben, JanMaarten, de Man, Stella A, Den Hollander, Nicolette S, Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C, Hoogeboom, A. Jeannette M, Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B, Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B, Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M, Verheij, Joke B.G.M, Mannens, Marcel M, Hennekam, Raoul C

“…Abstract Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in…”
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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis by Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.

“…ABSTRACT TCF12‐related craniosynostosis can be caused by small heterozygous loss‐of‐function mutations in TCF12. Large intragenic rearrangements, however, have…”
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Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development by Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M, Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A Jeannette M, Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H, van Slegtenhorst, Marjon, Dobyns, William B, de Coo, Irenaeus F M, van den Berg, Debbie, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S

“…[This corrects the article DOI: 10.1371/journal.pgen.1006809.]…”
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes by Twigg, Stephen R F, Babbs, Christian, van den Elzen, Marijke E P, Goriely, Anne, Taylor, Stephen, McGowan, Simon J, Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Sadighi Akha, Elham, Knight, Samantha J L, Zechi-Ceide, Roseli M, Hoogeboom, Jeannette A M, Pober, Barbara R, Toriello, Helga V, Wall, Steven A, Rita Passos-Bueno, M, Brunner, Han G, Mathijssen, Irene M J, Wilkie, Andrew O M

“…Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic…”
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Pfeiffer syndrome: the importance of prenatal diagnosis by Nieuwenhuyzen-De Boer, Gatske M, Hoogeboom, A. Jeannette M, Smit, Liesbeth S, Heydanus, Roger, Eggink, Alex J

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Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family by Kalscheuer, Vera M, James, Victoria M, Himelright, Miranda L, Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A, Topf, Maya, Hoogeboom, A Jeannette M, Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J

“…Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA…”
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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1 by Nellen, Ruud G. L., Nagtzaam, Ivo F., Hoogeboom, A. Jeannette M., Bladergroen, Reno S., Jonkman, Marcel F., Steijlen, Peter M., van Steensel, Maurice A. M., van Geel, Michel

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Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome by Fenwick, Aimee L, Goos, Jacqueline A C, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans M W, Wall, Steven A, Mathijssen, Irene M J, Wilkie, Andrew O M

“…Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are…”
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients by Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hilde, Kuechler, Alma, Barge-Schaapveld, Daniela QCM, Sznajer, Yves, Mortier, Geert, Menten, Björn

“…Purpose: Radial ray deficiencies are characterized by unilateral or bilateral absence of varying portions of the radius and thumb. Both isolated and syndromic…”
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Additional phenotypic features of Muenke syndrome in 2 Dutch families by de Jong, Tim, Mathijssen, Irene M J, Hoogeboom, A Jeannette M

“…In about 30% of the patients with syndromal craniosynostosis, a genetic mutation can be traced. For the purpose of adequate genetic counseling and treatment of…”
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