High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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Cover Image, Volume 179A, Number 1, January 2019
LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence
Published in Journal of medical genetics (01.07.2017)
Published in Journal of medical genetics (01.07.2017)
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