Search Results - "SCHINZEL, A."

PRKACA mediates resistance to HER2-targeted therapy in breast cancer cells and restores anti-apoptotic signaling by Moody, S E, Schinzel, A C, Singh, S, Izzo, F, Strickland, M R, Luo, L, Thomas, S R, Boehm, J S, Kim, S Y, Wang, Z C, Hahn, W C

“…Targeting HER2 with antibodies or small molecule inhibitors in HER2-positive breast cancer leads to improved survival, but resistance is a common clinical…”
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Angelman syndrome 2005: Updated consensus for diagnostic criteria by Williams, Charles A., Beaudet, Arthur L., Clayton-Smith, Jill, Knoll, Joan H., Kyllerman, Martin, Laan, Laura A., Magenis, R. Ellen, Moncla, Ann, Schinzel, Albert A., Summers, Jane A., Wagstaff, Joseph

“…In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in…”
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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes by Bartholdi, D, Krajewska-Walasek, M, Ounap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A

“…Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation…”
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Survival with trisomy 18-data from Switzerland by Niedrist, D., Riegel, M., Achermann, J., Schinzel, A.

“…We collected records of 352 cases of trisomy 18 karyotyped between 1964 and May 2003 from the two major cytogenetic laboratories in Northeastern Switzerland…”
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Telomeres: a diagnosis at the end of the chromosomes by De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-Arts, C

“…In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500…”
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Self-Inversive Polynomials with All Zeros on the Unit Circle by Schinzel, A.

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies by Reis, L. M., Tyler, R. C., Weh, E., Hendee, K. E., Schilter, K. F., Phillips III, J. A., Sequeira, S., Schinzel, A., Semina, E. V.

“…The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and…”
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Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation by Rossi, E, Riegel, M, Messa, J, Gimelli, S, Maraschio, P, Ciccone, R, Stroppi, M, Riva, P, Perrotta, C S, Mattina, T, Memo, L, Baumer, A, Kucinskas, V, Castellan, C, Schinzel, A, Zuffardi, O

“…Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been…”
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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome by Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M

“…Cardio‐facio‐cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. The recent discovery of heterozygous…”
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Tetrasomy 12p (Pallister-Killian syndrome) by Schinzel, A

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations by Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miettinen, T, Ogorelkova, M, Rossi, M, Scala, I, Schinzel, A, Schmidt, K, Schönitzer, D, Seemanova, E, Sperling, K, Syrrou, M, Talmud, P J, Wollnik, B, Krawczak, M, Labuda, D, Utermann, G

“…Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the…”
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Polynomials with Special Regard to Reducibility by Schinzel, A.

“…This book covers most of the known results on reducibility of polynomials over arbitrary fields, algebraically closed fields and finitely generated fields…”
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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome by Bamshad, M., Le, T., Watkins, W.S., Dixon, M.E., Kramer, B.E., Roeder, A.D., Carey, J.C., Root, S., Schinzel, A., Van Maldergem, L., Gardner, R.J.M., Lin, R.C., Seidman, C.E., Seidman, J.G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C.E., Jorde, L.B.

“…Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the…”
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The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome by Kyburz, A., Bauersfeld, U., Schinzel, A., Riegel, M., Hug, M., Tomaske, M., Valsangiacomo Büchel, E. R.

“…Background This study aimed to evaluate the cardiac outcome for children with microdeletion 22q11.2 and congenital heart defect (CHD). Methods A total of 49…”
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High Level of Unequal Meiotic Crossovers at the Origin of the 22q11.2 and 7q11.23 Deletions by Baumer, Alessandra, Dutly, Fabrizio, Balmer, Damina, Riegel, Mariluce, Tukel, Türgut, Krajewska-Walasek, Malgorzata, Schinzel, Albert A.

“…Interstitial chromosomal deletions at 22q11.2 and 7q11.23 are detected in the vast majority of patients affected by CATCH 22 syndromes and the Williams-Beuren…”
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Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report by Kosztolányi, G, Brecevic, L, Bajnòczky, K, Schinzel, A, Riegel, M

“…Abstract Additional small ring chromosome 1 is described with increasing rate of mosaicism in three generations. Ten years after the first examination, the…”
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Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome by EBERLE, P, BERGER, C, JUNGE, S, DOUGOUD, S, VALSANGIACOMO BÜCHEL, E, RIEGEL, M, SCHINZEL, A, SEGER, R, GÜNGOR, T

“…A subgroup of patients with 22q11.2 microdeletion and partial DiGeorge syndrome (pDGS) appears to be susceptible to non-cardiac mortality (NCM) despite…”
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Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination by Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brøndum-Nielsen, K., Christian, S. L., Ledbetter, D. H., Schinzel, A. A., Horsthemke, B., Schuffenhauer, S., Michaelis, R. C., Langlois, S., Hassold, T. J.

“…Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were…”
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Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion by Baumer, A, Riegel, M, Schinzel, A

“…Background: Analyses of the replication timing at 22q11.2 were prompted by our finding of a statistically significant bias in the origin of the regions…”
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Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes by RIEGEL, Mariluce, BAUMER, Alessandra, JAMAR, Mauricette, DELBECQUE, Kathy, HERENS, Christian, VERLOES, Alain, SCHINZEL, Albert

“…Unbalanced submicroscopic subtelomeric chromosomal rearrangements represent a significant cause of unexplained moderate to severe mental retardation with and…”
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