DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics von Simeonov, Dimitre R., Wang, Xinjing, Wang, Chen, Sergeev, Yuri, Dolinska, Monika, Bower, Matthew, Fischer, Roxanne, Winer, David, Dubrovsky, Genia, Balog, Joan Z., Huizing, Marjan, Hart, Rachel, Zein, Wadih M., Gahl, William A., Brooks, Brian P., Adams, David R.

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Latent Class Subtyping of Attention-Deficit/Hyperactivity Disorder and Comorbid Conditions von Acosta, Maria T., M.D, Castellanos, F. Xavier, M.D, Bolton, Kelly L., B.S, Balog, Joan Z., M.S.N, Eagen, Patricia, R.N, Nee, Linda, M.S.W, Jones, Janet, R.N, Palacio, Luis, Ph.D, Sarampote, Christopher, Ph.D, Russell, Heather F., Ph.D, Berg, Kate, Ph.D, Arcos-Burgos, Mauricio, M.D., Ph.D, Muenke, Maximilian, M.D

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Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia von Solomon, Benjamin D., Pineda‐Alvarez, Daniel E., Balog, Joan Z., Hadley, Donald, Gropman, Andrea L., Nandagopal, Radha, Han, Joan C., Hahn, Jin S., Blain, Delphine, Brooks, Brian, Muenke, Maximilian

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A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum von Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Hadsall, Casey K., Brooks, Brian P., Muenke, Maximilian

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The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1 von Liberfarb, Ruth M., Levy, Howard P., Rose, Peter S., Wilkin, Douglas J., Davis, Joie, Balog, Joan Z., Griffith, Andrew J., Szymko-Bennett, Yvonne M., Johnston, Jennifer J., Francomano, Clair A.

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Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan von Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Brooks, Brian P., Muenke, Maximilian

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog von Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian

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Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals von Solomon, Benjamin D, Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J, Delgado, Mauricio R, Rosenbaum, Kenneth, Dubourg, Christèle, David, Veronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J, Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, McPherson, Elizabeth, Hennekam, Raoul C M, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W, Thomas, Ronald L, Kenwrick, Sue, Cummings, Derek A T, Bous, Sophia M, Keaton, Amelia, Balog, Joan Z, Hadley, Donald, Zhou, Nan, Long, Robert, Vélez, Jorge I, Pineda-Alvarez, Daniel E, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian

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Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals von Solomon, Benjamin D, Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J, Delgado, Mauricio R, Rosenbaum, Kenneth, Dubourg, Christele, David, Veronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J, Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, McPherson, Elizabeth, Hennekam, Raoul C. M, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W, Thomas, Ronald L, Kenwrick, Sue, Cummings, Derek A. T, Bous, Sophia M, Keaton, Amelia, Balog, Joan Z, Hadley, Donald, Zhou, Nan, Long, Robert, Velez, Jorge I, Pineda-Alvarez, Daniel E, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian

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Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia von Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Balog, Joan Z., Hadley, Donald, Gropman, Andrea L., Nandagopal, Radha, Han, Joan C., Hahn, Jin S., Blain, Delphine, Brooks, Brian, Muenke, Maximilian

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