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

Volltext

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correla... von 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

Volltext

An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy von LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark

Volltext

Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions von Schoeffel, Kara, McCarthy Veach, Patricia, Rubin, Karol, LeRoy, Bonnie

Volltext

Cover Image, Volume 179A, Number 1, January 2019 von LaConte, Leslie E. W., Chavan, Vrushali, DeLuca, Stephanie, Rubin, Karol, Malc, Jessica, Berry, Susan, Gail Summers, C., Mukherjee, Konark

Volltext

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

Volltext

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma M.M, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D'Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine

Volltext

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma MM, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D’Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine M

Volltext

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correla... von 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, Hernandez-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

Volltext

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correla... von 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

Volltext

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

Volltext

Nitric oxide acts as a cotransmitter in a subset of dopaminergic neurons to diversify memory dynamics von Aso, Yoshinori, Ray, Robert P, Long, Xi, Bushey, Daniel, Cichewicz, Karol, Ngo, Teri-Tb, Sharp, Brandi, Christoforou, Christina, Hu, Amy, Lemire, Andrew L, Tillberg, Paul, Hirsh, Jay, Litwin-Kumar, Ashok, Rubin, Gerald M

Volltext

Current Applications and Safety of Autologous Fat Grafts: A Report of the ASPS Fat Graft Task Force von Gutowski, Karol A.

Volltext

Soft matter physics of the ground beneath our feet von Voigtländer, Anne, Houssais, Morgane, Bacik, Karol A, Bourg, Ian C, Burton, Justin C, Daniels, Karen E, Datta, Sujit S, Del Gado, Emanuela, Deshpande, Nakul S, Devauchelle, Olivier, Ferdowsi, Behrooz, Glade, Rachel, Goehring, Lucas, Hewitt, Ian J, Jerolmack, Douglas, Juanes, Ruben, Kudrolli, Arshad, Lai, Ching-Yao, Li, Wei, Masteller, Claire, Nissanka, Kavinda, Rubin, Allan M, Stone, Howard A, Suckale, Jenny, Vriend, Nathalie M, Wettlaufer, John S, Yang, Judy Q

Volltext

A new brain dopamine‐deficient Drosophila and its pharmacological and genetic rescue von Cichewicz, K., Garren, E. J., Adiele, C., Aso, Y., Wang, Z., Wu, M., Birman, S., Rubin, G. M., Hirsh, J.

Volltext

Correction: Nitric oxide acts as a cotransmitter in a subset of dopaminergic neurons to diversify memory dynamics von Asou, Yoshinori, Ray, Robert P, Long, Xi, Bushey, Daniel, Cichewicz, Karol, Ngo, Teri-TB, Sharp, Brandi, Christoforou, Christina, Hu, Amy, Lemire, Andrew L, Tillberg, Paul, Hirsh, Jay, Litwin-Kumar, Ashok, Rubin, Gerald M

Volltext

2018 ACC/HRS/NASCI/SCAI/SCCT Expert Consensus Document on Optimal Use of Ionizing Radiation in Cardiovascular Imaging: Best Practices for Safety and Effectiveness von Hirshfeld, John W., Ferrari, Victor A., Bengel, Frank M., Bergersen, Lisa, Chambers, Charles E., Einstein, Andrew J., Eisenberg, Mark J., Fogel, Mark A., Gerber, Thomas C., Haines, David E., Laskey, Warren K., Limacher, Marian C., Nichols, Kenneth J., Pryma, Daniel A., Raff, Gilbert L., Rubin, Geoffrey D., Smith, Donnette, Stillman, Arthur E., Thomas, Suma A., Tsai, Thomas T., Wagner, Louis K., Samuel Wann, L., Januzzi, James L., Afonso, Luis C., Everett, Brendan, Hernandez, Adrian F., Hucker, William, Jneid, Hani, Kumbhani, Dharam, Edward Marine, Joseph, Morris, Pamela Bowe, Piana, Robert N., Watson, Karol E., Wiggins, Barbara S.

Volltext

Collision tumors revealed by prospectively assessing subtype-defining molecular alterations in 904 individual prostate cancer foci von Fontugne, Jacqueline, Cai, Peter Y, Alnajar, Hussein, Bhinder, Bhavneet, Park, Kyung, Ye, Huihui, Beg, Shaham, Sailer, Verena, Siddiqui, Javed, Blattner-Johnson, Mirjam, Croyle, Jaclyn A, Noorzad, Zohal, Calagua, Carla, MacDonald, Theresa Y, Axcrona, Ulrika, Bogaard, Mari, Axcrona, Karol, Scherr, Douglas S, Sanda, Martin G, Johannessen, Bjarne, Chinnaiyan, Arul M, Elemento, Olivier, Skotheim, Rolf I, Rubin, Mark A, Barbieri, Christopher E, Mosquera, Juan Miguel

Volltext

2018 ACC/HRS/NASCI/SCAI/SCCT Expert Consensus Document on Optimal Use of Ionizing Radiation in Cardiovascular Imaging-Best Practices for Safety and Effectiveness, Part 1: Radiation... von Hirshfeld, Jr, John W, Ferrari, Victor A, Bengel, Frank M, Bergersen, Lisa, Chambers, Charles E, Einstein, Andrew J, Eisenberg, Mark J, Fogel, Mark A, Gerber, Thomas C, Haines, David E, Laskey, Warren K, Limacher, Marian C, Nichols, Kenneth J, Pryma, Daniel A, Raff, Gilbert L, Rubin, Geoffrey D, Smith, Donnette, Stillman, Arthur E, Thomas, Suma A, Tsai, Thomas T, Wagner, Louis K, Samuel Wann, L, Januzzi, Jr, James L, Afonso, Luis C, Everett, Brendan, Hernandez, Adrian F, Hucker, William, Jneid, Hani, Kumbhani, Dharam, Edward Marine, Joseph, Morris, Pamela Bowe, Piana, Robert N, Watson, Karol E, Wiggins, Barbara S

Volltext

2018 ACC/HRS/NASCI/SCAI/SCCT Expert Consensus Document on Optimal Use of Ionizing Radiation in Cardiovascular Imaging—Best Practices for Safety and Effectiveness, Part 2: Radiologi... von Hirshfeld, John W., Ferrari, Victor A., Bengel, Frank M., Bergersen, Lisa, Chambers, Charles E., Einstein, Andrew J., Eisenberg, Mark J., Fogel, Mark A., Gerber, Thomas C., Haines, David E., Laskey, Warren K., Limacher, Marian C., Nichols, Kenneth J., Pryma, Daniel A., Raff, Gilbert L., Rubin, Geoffrey D., Smith, Donnette, Stillman, Arthur E., Thomas, Suma A., Tsai, Thomas T., Wagner, Louis K., Samuel Wann, L., Januzzi, James L., Afonso, Luis C., Everett, Brendan, Hernandez, Adrian F., Hucker, William, Jneid, Hani, Kumbhani, Dharam, Edward Marine, Joseph, Morris, Pamela Bowe, Piana, Robert N., Watson, Karol E., Wiggins, Barbara S.

Volltext