Search Results - "HANSMANN, Ingo"

Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24 by Dörr, Sylvia, Midro, Alina T., Färber, Claudia, Giannakudis, Joannis, Hansmann, Ingo

“…Russell–Silver syndrome (RSS) is a heterogeneous disorder characterized mainly by pre- and postnatal growth retardation and characteristic dysmorphic features…”
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Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2 by Schnittger, S, Rao, V V, Abrahamson, M, Hansmann, I

“…The cystatin C gene (CST3) encodes a low-molecular-weight cysteine proteinase inhibitor belonging to family II of the cystatin superfamily and is mutated in…”
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Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature by Dutta, Usha R, Hansmann, Ingo, Schlote, Dietmar

“…Abstract Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and…”
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Pattern and frequency of nondisjunction in oocytes from the Djungarian hamster are determined by the stage of first meiotic spindle inhibition by HUMMLER, E, HANSMANN, I

“…In order to study the mechanisms of nondisjunction at meiosis I in oocytes gonadotropin-stimulated Djungarian hamsters were treated at two stages [4.5 and 6 h…”
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Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome by Röpke, Albrecht, Kujat, Annegret, Gräber, Mechthild, Giannakudis, Joannis, Hansmann, Ingo

“…Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular…”
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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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Paramutation-Like Effects at the Mouse scapinin (Phactr3) Locus by Worch, Sebastian, Hansmann, Ingo, Schlote, Dietmar

“…Paramutation-like phenomena have been extensively studied in plants and so far described for a very few engineered loci in the mouse. Here we report an…”
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Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements by Starke, Heike, Seidel, Jörg, Henn, Wolfram, Reichardt, Sylvia, Volleth, Marianne, Stumm, Markus, Behrend, Christine, Sandig, Klaus R, Kelbova, Christine, Senger, Gabriele, Albrecht, Beate, Hansmann, Ingo, Heller, Anita, Claussen, Uwe, Liehr, Thomas

“…A thorough study of the heterochromatin organisation in the pericentromeric region and the proximal long (q) and short (p) arms of human chromosome 9 (HSA 9)…”
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Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome by Fischer, Andreas, Klamt, Barbara, Schumacher, Nina, Glaeser, Christiane, Hansmann, Ingo, Fenge, Hartmut, Gessler, Manfred

“…The genetic alterations leading to congenital heart defects (CHD) are still poorly understood. We and others have recently shown that in mice loss of Hey2…”
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Association of a specific haplotype across the genes MMP1 and MMP3 with radiographic joint destruction in rheumatoid arthritis by Dörr, Sylvia, Lechtenböhmer, Nadine, Rau, Rolf, Herborn, Gertraud, Wagner, Ulf, Müller-Myhsok, Bertram, Hansmann, Ingo, Keyszer, Gernot

“…The genetic background of rheumatoid arthritis (RA) is only partly understood, and several genes seem to be involved. The matrix metalloproteinases MMP1…”
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Twelve novel JAG1 gene mutations in polish Alagille syndrome patients by Jurkiewicz, Dorota, Popowska, Ewa, Gläser, Christiane, Hansmann, Ingo, Krajewska-Walasek, Małgorzata

“…Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the…”
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An excess of chromosome 1 breakpoints in male infertility by BACHE, Ihen, VAN ASSCHE, Elvire, KALSCHEUER, Vera, LIEBAERS, Inge, BONDUELLE, Maryse, TOURNAYE, Herman, AYUSO, Carmen, BARBI, Gotthold, BLENNOW, Elisabeth, BOURROUILLOU, Georges, BRONDUM-NIELSEN, Karen, BRUUN-PETERSEN, Gert, CINGOZ, Sultan, CROQUETTE, Marie-Francoise, DAHOUN, Sophie, DALLAPICCOLA, Bruno, DAVISON, Val, DELOBEL, Bruno, DUBA, Hans-Christoph, DUPREZ, Laurence, FERGUSON-SMITH, Malcolm, FITZPATRICK, David R, GRACE, Elizabeth, BUGGE, Merete, HANSMANN, Ingo, HULTEN, Maj, JENSEN, Peter Ka, JONVEAUX, Philippe, KRISTOFFERSSON, Ulf, LOPEZ-PAJARES, Isidora, MCGOWAN-JORDAN, Jean, MURKEN, Jan, ORERA, Maria, PARKIN, Tony, TÜMER, Zeynep, PASSARGE, Eberhard, RAMOS, Carmen, RASMUSSEN, Kirsten, SCHEMPP, Werner, SCHUBERT, Regine, SCHWINGER, Eberhard, SHABTAI, Fiorella, SMITH, Kim, STALLINGS, Raymond, STEFANOVA, Margarita, HJORTH, Mads, TRANEBJERG, Lisbeth, TURLEAU, Catherine, BIRGER VAN DER HAGEN, Carl, VEKEMANS, Michel, KOKALJ VOKAC, Nadja, WAGNER, Klaus, WAHLSTROEM, Jan, ZELANTE, Leopoldo, TOMMERUP, Niels, LUNDSTEEN, Claes, LESPINASSE, James, WINTHER, Kirsten, NIEBUHR, Anita

“…In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced…”
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Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia by Stankiewicz, Paweł, Thiele, Hannelore, Schlicker, Mike, Cseke-Friedrich, Andrea, Bartel-Friedrich, Sylva, Yatsenko, Svetlana A., Lupski, James R., Hansmann, Ingo

“…Duplications of the distal long arm of the X chromosome are rare and carrier females are usually phenotypically normal. We report on a 14‐year‐old short…”
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Gene symbol: JAG1. Disease: tetralogy of Fallot by Glaeser, C, Kotzot, Dieter, Caliebe, Almuth, Kottke, Renate, Schulz, Susanne, Schweigmann, Ullrich, Hansmann, Ingo

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Twelve novel JAG1 gene mutations in polish Alagille syndrome patients: MUTATIONS IN BRIEF by Jurkiewicz, Dorota, Popowska, Ewa, Gläser, Christiane, Hansmann, Ingo, Krajewska-Walasek, Małgorzata

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Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome: MUTATIONS IN BRIEF by Röpke, Albrecht, Kujat, Annegret, Gräber, Mechthild, Giannakudis, Joannis, Hansmann, Ingo

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Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome by DÖRR, Sylvia, SCHLICKER, Mike, HANSMANN, Ingo

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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation by Stankiewicz, Paweł, Kuechler, Alma, Eller, C. Daniel, Sahoo, Trilochan, Baldermann, Christiane, Lieser, Ulla, Hesse, Martin, Gläser, Christiane, Hagemann, Monika, Yatsenko, Svetlana A., Liehr, Thomas, Horsthemke, Bernhard, Claussen, Uwe, Marahrens, York, Lupski, James R., Hansmann, Ingo

“…Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3‐year‐old…”
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Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage by EIBEN, B, BARTELS, I, RAUSKOLB, R, HANSMANN, I, BAÊHR-PORSCH, S, BORGMANN, S, GATZ, G, GELLERT, G, GOEBEL, R, HAMMANS, W, HENTEMANN, M, OSMERS, R

“…Altogether, 750 cases of spontaneous abortion between the fifth and 25th week of gestation were analyzed cytogenetically by the direct-preparation method using…”
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Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia by Stankiewicz, Paweł, Thiele, Hannelore, Schlicker, Mike, Cseke-Friedrich, Andrea, Bartel-Friedrich, Sylva, Yatsenko, Svetlana A., Lupski, James R., Hansmann, Ingo

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