Search Results - "Stankiewicz, P"

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females by Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

“…Variants in CLCN4 , which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked…”
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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications by Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.

“…Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3…”
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders by Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C Sreenath, Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T

“…Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and…”
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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 by Nagamani, S C Sreenath, 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

“…Deletions in the 17p13.3 region are associated with abnormal neuronal migration. Point mutations or deletion copy number variants of the PAFAH1B1 gene in this…”
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH by Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.

“…The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all…”
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E-Beam Effects on Poly(Xylitol Dicarboxylate-co-diol Dicarboxylate) Elastomers Tailored by Adjusting Monomer Chain Length by Piątek-Hnat, Marta, Bomba, Kuba, Kowalski-Stankiewicz, Janusz P, Pęksiński, Jakub, Kozłowska, Agnieszka, Sośnicki, Jacek G, Idzik, Tomasz J, Schmidt, Beata, Kowalczyk, Krzysztof, Walo, Marta, Mikołajczak, Grzegorz, Kochmańska, Agnieszka

“…Poly(xylitol dicarboxylate-co-diol dicarboxylate) elastomers can by synthesized using wide variety of monomers with different chain lengths. Obtained materials…”
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Physical Effects of Radiation Modification of Biodegradable Xylitol-Based Materials Synthesized Using a Combination of Different Monomers by Piątek-Hnat, Marta, Bomba, Kuba, Kowalski-Stankiewicz, Janusz P, Pęksiński, Jakub, Kozłowska, Agnieszka, Sośnicki, Jacek G, Idzik, Tomasz J, Schmidt, Beata, Kowalczyk, Krzysztof, Walo, Marta, Kochmańska, Agnieszka

“…There is a possibility of obtaining xylitol-based elastomers sharing common characteristics of biodegradability, thermal stability, and elastomeric behavior by…”
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia by Leipoldt, M, Erdel, M, Bien-Willner, GA, Smyk, M, Theurl, M, Yatsenko, SA, Lupski, JR, Lane, AH, Shanske, AL, Stankiewicz, P, Scherer, G

“…The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3…”
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Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections by Smyk, M., Obersztyn, E., Nowakowska, B., Nawara, M., Cheung, S.W., Mazurczak, T., Stankiewicz, P., Bocian, E.

“…In XY males, duplication of any part of the X chromosome except the pseudoautosomal region leads to functional disomy of the corresponding genes. We describe…”
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RAPD, karyology and selected morphological variation in a model grass, Brachypodium distachyon by JAROSZEWICZ, A M, KOSINA, R, STANKIEWICZ, P R

“…Jaroszewicz AM, Kosina R & Stankiewicz PR (2012). RAPD, karyology and selected morphological variation in a model grass, Brachypodium distachyon. Weed…”
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What a clinician should know about new genetic diagnostic methods by Stankiewicz, P

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Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications by Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.

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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits by Lalani, S R, Thakuria, J V, Cox, G F, Wang, X, Bi, W, Bray, M S, Shaw, C, Cheung, S W, Chinault, A C, Boggs, B A, Ou, Z, Brundage, E K, Lupski, J R, Gentile, J, Waisbren, S, Pursley, A, Ma, L, Khajavi, M, Zapata, G, Friedman, R, Kim, J J, Towbin, J A, Stankiewicz, P, Schnittger, S, Hansmann, I, Ai, T, Sood, S, Wehrens, X H, Martin, J F, Belmont, J W, Potocki, L

“…Wolff-Parkinson-White syndrome (WPW) is a bypass re-entrant tachycardia that results from an abnormal connection between the atria and ventricles. Mutations in…”
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Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures by Bartnik, M, Chun-Hui Tsai, A, Xia, Z, Cheung, SW, Stankiewicz, P

“…Bartnik M, Chun‐Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and…”
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Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father by Smyk, M., Obersztyn, E., Nowakowska, B., Bocian, E., Cheung, S.W., Mazurczak, T., Stankiewicz, P.

“…Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi‐lethal skeletal malformation syndrome campomelic…”
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Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs by 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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Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development by El-Hattab, AW, Bournat, J, Eng, PA, Wu, JBS, Walker, BA, Stankiewicz, P, Cheung, SW, Brown, CW

“…El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior,…”
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly by Yatsenko, S A, Cheung, S W, Scott, D A, Nowaczyk, M J M, Tarnopolsky, M, Naidu, S, Bibat, G, Patel, A, Leroy, J G, Scaglia, F, Stankiewicz, P, Lupski, J R

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders by Shaw, C J, Shaw, C A, Yu, W, Stankiewicz, P, White, L D, Beaudet, A L, Lupski, J R

“…Background: Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the…”
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Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9 by Derwińska, K, Bernaciak, J, Wiśniowiecka-Kowalnik, B, Obersztyn, E, Bocian, E, Stankiewicz, P

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