Search Results - "Rubin, Karol"

Deletion and duplication of 11p13‐11p14: Reciprocal aberrations derived from a paternal insertion by Dolan, Michelle, Berry, Susan A., Rubin, Karol R., Hirsch, Betsy

“…More than 100 cases of deletions that span 11p13‐11p14 resulting in WAGR syndrome have been reported in the literature. In contrast, reports of duplications…”
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation by 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

“…ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype–phenotype…”
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An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy by LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark

“…Heterozygous loss‐of‐function mutations in the X‐linked gene CASK are associated with mental retardation and microcephaly with pontine and cerebellar…”
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Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions by Schoeffel, Kara, McCarthy Veach, Patricia, Rubin, Karol, LeRoy, Bonnie

“…Research shows couple conflict occurring during prenatal genetic counseling sessions may be challenging for some genetic counselors. Yet, no study has explored…”
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Cover Image, Volume 179A, Number 1, January 2019 by LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark

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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability by 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

“…Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates…”
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Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion by Dolan, Michelle, Berry, Susan A., Rubin, Karol R., Hirsch, Betsy

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