Fetal seizures observed on ultrasound can guide diagnosis and treatment of neonatal epileptic encephalopathy von Dadoun, S, Ketwaroo, P, Bacino, C A, Emrick, L, Sanz Cortes, M

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Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment von Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, Mozelle, M, Chinault, A C, Patel, A, Bacino, C A, Sahoo, T, Kang, S H, Cheung, S W, Lupski, J R, Stankiewicz, P

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Autism in Angelman syndrome: implications for autism research von Peters, SU, Beaudet, AL, Madduri, N, Bacino, CA

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Next-generation sequencing for disorders of low and high bone mineral density von Sule, G., Campeau, P. M., Zhang, V. W., Nagamani, S. C. S., Dawson, B. C., Grover, M., Bacino, C. A., Sutton, V. R., Brunetti-Pierri, N., Lu, J. T., Lemire, E., Gibbs, R. A., Cohn, D. H., Cui, H., Wong, L.-J., Lee, B. H.

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Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma von Atwal, Paldeep S., Donti, Taraka R., Cardon, Aaron L., Bacino, C.A., Sun, Qin, Emrick, L., Reid Sutton, V., Elsea, Sarah H.

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Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot von Lu, W., Bacino, C.A., Richards, B.S., Alvarez, C., VanderMeer, J.E., Vella, M., Ahituv, N., Sikka, N., Dietz, F.R., Blanton, S.H., Hecht, J.T.

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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome von Kang, S-HL, Scheffer, A, Ou, Z, Li, J, Scaglia, F, Belmont, J, Lalani, SR, Roeder, E, Enciso, V, Braddock, S, Buchholz, J, Vacha, S, Chinault, AC, Cheung, SW, Bacino, CA

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Cerebral folate deficiency with developmental delay, autism, and response to folinic acid von MORETTI, P, SAHOO, T, NEUL, J. L, RAMAEKERS, V. T, BLAU, N, BACINO, C. A, MILLER, G, SCAGLIA, F, HYLAND, K, BOTTIGLIERI, T, PETERS, S, DEL GAUDIO, D, ROA, B, CURRY, S, ZHU, H, FINNELL, R. H

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Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review von Lennon, P.A., Cooper, M.L., Peiffer, D.A., Gunderson, K.L., Patel, A., Peters, Sarika, Cheung, S.W., Bacino, C.A.

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans von Newbury-Ecob, Ruth, Shears, Deborah J, Sutherland-Smith, Andrew J, Wilkie, Andrew O.M, Ørstavik, Karen H, Robertson, Stephen P, Horn, Denise, Quarrell, Oliver W.J, Gorlin, Robert J, Kenwrick, Susan J, Suri, Mohnish, Twigg, Stephen R.F, Biancalana, Valérie, Kim, Chong A, Schwartz, Charles E, Kendrick-Jones, John, Morava, Eva

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease von Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A

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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations von Sahoo, T, Peters, S U, Madduri, N S, Glaze, D G, German, J R, Bird, L M, Barbieri-Welge, R, Bichell, T J, Beaudet, A L, Bacino, C A

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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations von Probst, F J, James, R A, Burrage, L C, Rosenfeld, J A, Bohan, T P, Ward Melver, C H, Magoulas, P, Austin, E, Franklin, A I A, Azamian, M, Xia, F, Patel, A, Bi, W, Bacino, C, Belmont, J W, Ware, S M, Shaw, C, Cheung, S W, Lalani, S R

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Linkage analysis of circulating levels of adiponectin in hispanic children von Tejero, M.E, Cai, G, Goring, H.H.H, Diego, V, Cole, S.A, Bacino, C.A, Butte, N.F, Comuzzie, A.G

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Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs von Patel, Ankita, Rosenfeld-Mokry, J, Gambin, T, Liu, P, Bi, W, Breman, A, Smith, J, Lalani, S, Bacino, C, Beaudet, A.L, Lupski, J.R, Shaw, C.A, Cheung, S.W, Stankiewicz, P

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Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation von Lennon, P.A., Cooper, M.L., Curtis, M.A., Lim, C., Ou, Z., Patel, A., Cheung, S.W., Bacino, C.A.

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus von Sy, Mary R., Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo‐Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti‐Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille M., Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni Battista, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos A., Kuwahara, Akela, Bush, Jeffrey O., Zhao, Xiaonan, Luna, Pamela N., Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.

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Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome von Graham, B.H., Bacino, C.A.

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Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products von McKenzie, L.J., Cisneros, P.L., Torsky, S., Bacino, C.A., Buster, J.E., Carson, S.A., Simpson, J.L., Bischoff, F.

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Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter von Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.

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