Search Results - "Rosser, Elisabeth M"

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature by Klaassens, Merel, Morrogh, Deborah, Rosser, Elisabeth M, Jaffer, Fatima, Vreeburg, Maaike, Bok, Levinus A, Segboer, Tim, van Belzen, Martine, Quinlivan, Ros M, Kumar, Ajith, Hurst, Jane A, Scott, Richard H

“…De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding…”
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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm by Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, Mitchison, Hannah M

“…Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural…”
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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14 by Van Esch, Hilde, Rosser, Elisabeth M, Janssens, Sandra, Van Ingelghem, Ingrid, Loeys, Bart, Menten, Bjorn

“…Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The…”
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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation by KOOLEN, David A, REARDON, William, VELTMAN, Joris A, DE VRIES, Bert B. A, ROSSER, Elisabeth M, LACOMBE, Didier, HURST, Jane A, LAW, Caroline J, BONGERS, Ernie M. H. F, VAN RAVENSWAAIJ-ARTS, Conny M, LEISINK, Martijn A. R, GEURTS VAN KESSEL, Ad

“…The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia. In this study, the size and…”
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Medulloblastoma as a first presentation of fanconi anemia by Tischkowitz, Marc D, Chisholm, Julia, Gaze, Mark, Michalski, Antony, Rosser, Elisabeth M

“…Fanconi anemia is a chromosomal instability syndrome associated with certain congenital abnormalities, defective hemopoiesis, and an increased risk of…”
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Keratoconus associated with a chromosome 7, 11 translocation by Morrison, D A, Rosser, E M, Claoué, C

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome by Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

“…Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus…”
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Drugs for epilepsy have teratogenic risks by Rosser, Elisabeth M, Wilson, Louise C

“…More subtle effects of exposure to anticonvulsants in utero are increasingly recognised, frequently by developmental paediatricians and clinical geneticists. 2…”
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Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence by Rosser, E M, Wilkinson, A R, Hurst, J A, McGaughran, J M, Donnai, D

“…Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures. Infiltration…”
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