Search Results - "SCHUFFENHAUER, S"

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study by Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J

“…We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases…”
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Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance by Korenberg, J. R., X.-N. Chen, Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J. M., Hudgins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.

“…Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is…”
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Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery by Von Gernet, S, Golla, A, Ehrenfels, Y, Schuffenhauer, S, Fairley, Jd

“…Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast…”
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An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 by Lichtner, Peter, König, Rainer, Hasegawa, Tomonobu, Van Esch, Hilde, Meitinger, Thomas, Schuffenhauer, Simone

“…Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial…”
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A common region of 10p deleted in DiGeorge and velocardiofacial syndromes by Daw, Sara C.M, Taylor, Catherine, Kraman, Matthew, Call, Kathy, Mao, Jen-i, Schuffenhauer, Simone, Meitinger, Thomas, Lipson, Tony, Goodship, Judith, Scambler, Peter

“…DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism,…”
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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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Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p by LICHTNER, P, ATTIE-BITACH, T, SCHUFFENHAUER, S, HENWOOD, J, BOUVAGNET, P, SCAMBLER, P. J, MEITINGER, T, VEKEMANS, M

“…Partial monosomy 10p is a rare chromosomal aberration. Patients often show symptoms of the DiGeorge/velocardiofacial syndrome spectrum. The phenotype is the…”
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De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings by Schuffenhauer, Simone, Leifheit, Hans-Jürgen, Lichtner, Peter, Peters, Heiko, Murken, Jan, Emmerich, P

“…A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented…”
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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications by Kotzot, Dieter, Martinez, Maria-Jose, Bagci, Gulseren, Basaran, Seher, Baumer, Alessandra, Binkert, Franz, Brecevic, Lucrecja, Castellan, Claudio, Chrzanowska, Krystyna, Dutly, Fabrizio, Gutkowska, Anna, Karaüzüm, Sibel Berker, Krajewska-Walasek, Malgorzata, Luleci, Guven, Miny, Peter, Riegel, Mariluce, Schuffenhauer, Simone, Seidel, Heide, Schinzel, Albert

“…Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12…”
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A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction by Callen, D F, Eyre, H, McDonnell, S, Schuffenhauer, S, Bhalla, K

“…Detailed fluorescence in situ hybridisation analysis of a previously described translocation revealed it to be a more complex rearrangement consisting of both…”
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Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry by SCHMIDT, HEINRICH, UHRIG, SABINE, LEDERER, GABY, MURKEN, JAN, SPEICHER, MICHAEL R, SCHUFFENHAUER, SIMONE

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CYTOGENETIC AND AGE-DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15 by ROBINSON, W. P., LANGLOIS, S., SCHUFFENHAUER, S., HORSTHEMKE, B., MICHAELIS, R. C., CHRISTIAN, S., LEDBETTER, D. H., SCHINZEL, A.

“…Prader–Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11–q13 or maternal uniparental disomy (UPD) of chromosome 15. Including the…”
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Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core) by Merino-Martinez, Roxana, Norlin, Loreana, van Enckevort, David, Anton, Gabriele, Schuffenhauer, Simone, Silander, Kaisa, Mook, Linda, Holub, Petr, Bild, Raffael, Swertz, Morris, Litton, Jan-Eric

“…Biobanks are the biological back end of data-driven medicine, but lack standards and generic solutions for interoperability and information harmonization. The…”
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The Gene Coding for Glial Cell Line Derived Neurotrophic Factor (GDNF) Maps to Chromosome 5p12-p13.1 by Schindelhauer, D., Schuffenhauer, S., Gasser, T., Steinkasserer, A., Meitinger, T.

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High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype by Callen, D F, Eyre, H, Lane, S, Shen, Y, Hansmann, I, Spinner, N, Zackai, E, McDonald-McGinn, D, Schuffenhauer, S, Wauters, J

“…The breakpoints of seven interstitial deletions of the long arm of chromosome 16 and two ring chromosomes of this chromosome were mapped by in situ…”
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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism by Meindl, A, Hosenfeld, D, Brückl, W, Schuffenhauer, S, Jenderny, J, Bacskulin, A, Oppermann, H C, Swensson, O, Bouloux, P, Meitinger, T

“…The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse…”
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Increased parental ages and uniparental disomy 15: a paternal age effect? by Robinson, W P, Lorda-Sanchez, I, Malcolm, S, Langlois, S, Schuffenhauer, S, Knoblauch, H, Horsthemke, B, Schinzel, A A

“…Parental ages associated with both maternal and paternal uniparental disomy (UPD) of chromosome 15 are highly elevated in comparison to Zurich population-based…”
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A heritable folate-sensitive fragile site on chromosome 2p11.2 (FRA2L) by Schuffenhauer, S., Lederer, G., Murken, J.

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Comprehensive catalog of European biobanks by Wichmann, H-Erich, Kuhn, Klaus A, Waldenberger, Melanie, Schmelcher, Dominik, Schuffenhauer, Simone, Meitinger, Thomas, Wurst, Sebastian H R, Lamla, Gregor, Fortier, Isabel, Burton, Paul R, Peltonen, Leena, Perola, Markus, Metspalu, Andres, Riegman, Peter, Landegren, Ulf, Taussig, Michael J, Litton, Jan-Eric, Fransson, Martin N, Eder, Johann, Cambon-Thomsen, Anne, Bovenberg, Jasper, Dagher, Georges, van Ommen, Gert-Jan, Griffith, Michael, Yuille, Martin, Zatloukal, Kurt

“…The high costs involved in planning, conducting and analyzing the results of clinical trials will prevent a stampede to make biosimilars; in fact, several…”
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Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) by ERDEL, M, SCHUFFENHAUER, S, BUCHHOLZ, B, BARTH-WITTE, U, KÖCHL, S, UTERMANN, B, DUBA, H.-C, UTERMANN, G

“…About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS)…”
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