Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
Schwartz, Charles E., May, Melanie M., Carpenter, Nancy J., Rogers, R. Curtis, Martin, Judith, Bialer, Martin G., Ward, Jewell, Sanabria, Javier, Marsa, Silvana, Lewis, James A., Echeverri, Roberto, Lubs, Herbert A., Voeller, Kytja, Simensen, Richard J., Stevenson, Roger E.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
Bernstein, Donna L., Bialer, Martin G., Mehta, Lakshmi, Desnick, Robert J.
Published in Molecular genetics and metabolism (01.10.2010)
Published in Molecular genetics and metabolism (01.10.2010)
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Duane syndrome in association with 48,XXYY karyotype
Weis, Adina, BA, Bialer, Martin G., MD, PhD, Kodsi, Sylvia, MD
Published in Journal of AAPOS (01.06.2011)
Published in Journal of AAPOS (01.06.2011)
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PDE3A mutations cause autosomal dominant hypertension with brachydactyly
Maass, Philipp G, Aydin, Atakan, Luft, Friedrich C, Schächterle, Carolin, Weise, Anja, Stricker, Sigmar, Lindschau, Carsten, Vaegler, Martin, Qadri, Fatimunnisa, Toka, Hakan R, Schulz, Herbert, Krawitz, Peter M, Parkhomchuk, Dmitri, Hecht, Jochen, Hollfinger, Irene, Wefeld-Neuenfeld, Yvette, Bartels-Klein, Eireen, Mühl, Astrid, Kann, Martin, Schuster, Herbert, Chitayat, David, Bialer, Martin G, Wienker, Thomas F, Ott, Jürg, Rittscher, Katharina, Liehr, Thomas, Jordan, Jens, Plessis, Ghislaine, Tank, Jens, Mai, Knut, Naraghi, Ramin, Hodge, Russell, Hopp, Maxwell, Hattenbach, Lars O, Busjahn, Andreas, Rauch, Anita, Vandeput, Fabrice, Gong, Maolian, Rüschendorf, Franz, Hübner, Norbert, Haller, Hermann, Mundlos, Stefan, Bilginturan, Nihat, Movsesian, Matthew A, Klussmann, Enno, Toka, Okan, Bähring, Sylvia
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne
Published in Prenatal diagnosis (01.11.2008)
Published in Prenatal diagnosis (01.11.2008)
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Prenatal sonographic findings in a case of Wolman's disease
Blitz, Matthew J., Rochelson, Burton, Sood, Monica, Bialer, Martin G., Vohra, Nidhi
Published in Journal of clinical ultrasound (01.01.2018)
Published in Journal of clinical ultrasound (01.01.2018)
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Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester W., Beck, Christine R., Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
Stroke in Children: Genetic and Metabolic Issues
Pavlakis, Steven G., Kingsley, Peter B., Bialer, Martin G.
Published in Journal of child neurology (01.05.2000)
Published in Journal of child neurology (01.05.2000)
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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
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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Progression of cardiac disease in emery‐dreifuss muscular dystrophy
Bialer, Martin G., Mcdaniel, Nancy L., Kelly, Thaddeus E.
Published in Clinical cardiology (Mahwah, N.J.) (01.05.1991)
Published in Clinical cardiology (Mahwah, N.J.) (01.05.1991)
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Journal Article
Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years
Bernstein, Donna L., Edelman, Morris, Alexis, Claudine, Bialer, Martin G., Levine, Jeremiah, Fox, Joyce E., Desnick, Robert J.
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years
Bernstein, Donna L., Edelman, Morris, Alexis, Claudine, Bialer, Martin G., Levine, Jeremiah, Fox, Joyce E., Desnick, Robert J.
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Sonographic and DNA-based prenatal detection of Gorlin syndrome
Petrikovsky, B M, Bialer, M G, McLaughlin, J A, Bale, A E
Published in Journal of ultrasound in medicine (01.06.1996)
Published in Journal of ultrasound in medicine (01.06.1996)
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Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families
Goodman, B K, Shaffer, L G, Rutberg, J, Leppert, M, Harum, K, Gagos, S, Ray, J H, Bialer, M G, Zhou, X, Pletcher, B A, Shapira, S K, Geraghty, M T
Published in American journal of medical genetics (04.12.1998)
Published in American journal of medical genetics (04.12.1998)
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Journal Article
Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester, Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Published in Human mutation (13.08.2013)
Published in Human mutation (13.08.2013)
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