Search Results - "Fu, Chuanhua"

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas by Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M

“…Ludwine Messiaen and colleagues report the identification of constitutional LZTR1 mutations in individuals with schwannomatosis, an autosomal dominant…”
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Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR by Spencer, Emily, Davis, Julia, Mikhail, Fady, Fu, Chuanhua, Vijzelaar, Raymon, Zackai, Elaine H, Feret, Holly, Meyn, M Stephen, Shugar, Andrea, Bellus, Gary, Kocsis, Kristina, Kivirikko, Sirpa, Pöyhönen, Minna, Messiaen, Ludwine

“…Legius syndrome, is a recently identified autosomal dominant disorder caused by loss of function mutations in the SPRED1 gene, with individuals mainly…”
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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a] by Chen, Yunjia, Fu, Yulong, Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Liu, Jian, Bradley, William, Brown, Bryce, Shaw, Brandon, D'Agostino, Daniela, Fu, Chuanhua, Wallis, Deeann

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the gene. As of 20 November 2023, over…”
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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 19a by Chen, Yunjia, Fu, Yulong, Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Liu, Jian, Bradley, William, Brown, Bryce, Shaw, Brandon, D'Agostino, Daniela, Fu, Chuanhua, Wallis, Deeann

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the NF1 gene. As of 20 November 2023,…”
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Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1) by Messiaen, Ludwine, Vogt, Julia, Bengesser, Kathrin, Fu, Chuanhua, Mikhail, Fady, Serra, Eduard, Garcia-Linares, Carles, Cooper, David N., Lazaro, Conxi, Kehrer-Sawatzki, Hildegard

“…Mosaicism is an important feature of type‐1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using…”
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Decoding NF1 Intragenic Copy-Number Variations by Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Callens, Tom, Fu, Chuanhua, Wimmer, Katharina, Claes, Kathleen B.M., Messiaen, Ludwine

“…Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements, such as non-allelic…”
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Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients by Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Poplawski, Andrzej Brunon, Callens, Tom, Fu, Chuanhua, Messiaen, Ludwine

“…Multiplex ligation-dependent probe amplification (MLPA) has been widely used to identify copy-number variations (CNVs), but MLPA’s sensitivity and specificity…”
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Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene by Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Alexander, John, Callens, Tom, Fu, Chuanhua, Mikhail, Fady M., Claes, Kathleen B.M., Messiaen, Ludwine

“…ABSTRACT Palindromic sequences can form hairpin structures or cruciform extrusions, which render them susceptible to genomic rearrangements. A 197‐bp long…”
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Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions by Kehrer-Sawatzki, Hildegard, Bengesser, Kathrin, Callens, Tom, Mikhail, Fady, Fu, Chuanhua, Hillmer, Morten, Walker, Martha E., Saal, Howard M., Lacassie, Yves, Cooper, David N., Messiaen, Ludwine

“…ABSTRACT Approximately 5% of all patients with neurofibromatosis type‐1 (NF1) exhibit large deletions of the NF1 gene region. To date, only nine unrelated…”
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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder by Vogt, Julia, Mussotter, Tanja, Bengesser, Kathrin, Claes, Kathleen, Högel, Josef, Chuzhanova, Nadia, Fu, Chuanhua, van den Ende, Jenneke, Mautner, Victor-Felix, Cooper, David N., Messiaen, Ludwine, Kehrer-Sawatzki, Hildegard

“…Nonallelic homologous recombination (NAHR) is one of the major mechanisms underlying copy number variation in the human genome. Although several…”
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Identification of SPARED1 Deletions using RT-PCR, Multiplex Ligation-dependent Probe Amplification and Quantitative PCR by SPENCER, Emily, DAVIS, Julia, KOCSIS, Kristina, KIVIRIKKO, Sirpa, PÖYHÖNEN, Minna, MESSIAEN, Ludwine, MIKHAIL, Fady, CHUANHUA FU, VIJZELAAR, Raymon, ZACKAI, Elaine H, FERET, Holly, STEPHEN MEYN, M, SHUGAR, Andrea, BELLUS, Gary

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Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR by Spencer, Emily, Davis, Julia, Mikhail, Fady, Fu, Chuanhua, Vijzelaar, Raymon, Zackai, Elaine H, Feret, Holly, Meyn, M Stephen, Shugar, Andrea, Bellus, Gary, Kocsis, Kristina, Kivirikko, Sirpa, Pöyhönen, Minna, Messiaen, Ludwine

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