Search Results - "MESSIAEN, L. M"

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome by Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R.A., De Paepe, A., De Baere, E.

“…The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target…”
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Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA‐related segmental overgrowth: Co‐occurrence of mosaicism for 2 rare disorders by Mills, J.R., Moyer, A.M., Kipp, B.R., Poplawski, A.B., Messiaen, L.M., Babovic‐Vuksanovic, D.

“…A 28‐year‐old female with PIK3CA‐related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3…”
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts by Sharp, A M, Messiaen, L M, Page, G, Antignac, C, Gubler, M-C, Onuchic, L F, Somlo, S, Germino, G G, Guay-Woodford, L M

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Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? by Bertola, DR, Pereira, AC, Brasil, AS, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, AB, Janowski, KM, Kim, CA, Messiaen, LM

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Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 by Messiaen, L M, Wimmer, K

“…From our experience, it is of utmost importance to analyse the complete gene for the presence of all possible alterations that may result in a premature stop…”
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Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties by Callum, P., Messiaen, L.M., Bower, P.V., Skovby, F., Iger, J., Timshel, S., Sims, C.A., Falk, R.E.

“…BACKGROUND Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of…”
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Double Inactivation of NF1 in Tibial Pseudarthrosis by Stevenson, David A., Zhou, Holly, Ashrafi, Shadi, Messiaen, Ludwine M., Carey, John C., D’Astous, Jacques L., Santora, Stephen D., Viskochil, David H.

“…Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired…”
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects by Messiaen, Ludwine M., Callens, Tom, Mortier, Geert, Beysen, Diane, Vandenbroucke, Ina, Van Roy, Nadine, Speleman, Frank, Paepe, Anne De

“…Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex…”
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Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning by Anastasaki, Corina, Woo, Albert S, Messiaen, Ludwine M, Gutmann, David H

“…Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant…”
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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing by Messiaen, L M, Callens, T, Roux, K J, Mortier, G R, De Paepe, A, Abramowicz, M, Pericak-Vance, M A, Vance, J M, Wallace, M R

“…To analyze the spectrum and frequency of NF1 mutations in exon 10b. Mutation and sequence analysis was performed at the DNA and cDNA level. We identified nine…”
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Gonosomal mosaicism for an NFI deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties by CALLUM, P, MESSIAEN, L. M, BOWER, P. V, SKOVBY, F, IGER, J, TIMSHEL, S, SIMS, C. A, FALK, R. E

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Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1 by Stewart, Douglas R, Corless, Christopher L, Rubin, Brian P, Heinrich, Michael C, Messiaen, Ludwine M, Kessler, Lisa J, Zhang, Paul J, Brooks, David G

“…Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, and is inherited in an autosomal…”
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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? by Mortier, G R, Messiaen, L M, Espeel, M, Smets, K J, Vanzieleghem, B D, Roels, F, De Paepe, A M

“…We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic…”
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From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis by Ferner, Rosalie E., Bakker, Annette, Elgersma, Ype, Evans, D. Gareth R., Giovannini, Marco, Legius, Eric, Lloyd, Alison, Messiaen, Ludwine M., Plotkin, Scott, Reilly, Karlyne M., Schindeler, Aaron, Smith, Miriam J., Ullrich, Nicole J., Widemann, Brigitte, Sherman, Larry S.

“…The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous…”
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Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) by Yardley, Jill, Leroy, Bart P, Hart-Holden, Niki, Lafaut, Bart A, Loeys, Bart, Messiaen, Ludwine M, Perveen, Rahat, Reddy, M. Ashwin, Bhattacharya, Shomi S, Traboulsi, Elias, Baralle, Diana, De Laey, Jean-Jacques, Puech, Bernard, Kestelyn, Philippe, Moore, Anthony T, Manson, Forbes D. C, Black, Graeme C. M

“…To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with…”
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Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? by Bertola, D R, Pereira, A C, Brasil, A C, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, A B, Janowski, K M, Kim, C A, Messiaen, L M

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Qualitative and Quantitative Analysis of Tumour Invasion in vivo and in vitro by Mareel, Marc M., Roy, Frans M. Van, Messiaen, Ludwine M., Boghaert, Erwin R., Bruyneel, Erik A.

“…Qualitative and quantitative methods for the analysis of invasion in ‘natural’ and in experimental tumours in vivo and in vitro are reviewed. In human tumours…”
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts by Sharp, A M, Messiaen, L M, Page, G, Antignac, C, Gubler, M-C, Onuchic, L F, Somlo, S, Germino, G G, Guay-Woodford, L M

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Qualitative and quantitative analysis of tumour invasion in vivo and in vitro by Mareel, M M, Van Roy, F M, Messiaen, L M, Boghaert, E R, Bruyneel, E A

“…Qualitative and quantitative methods for the analysis of invasion in 'natural' and in experimental tumours in vivo and in vitro are reviewed. In human tumours…”
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