Amir Ali Abbasi, Debbie K. Goode, Saneela Amir, Karl-Heinz Grzeschik
Background: In vertebrates the “SONIC HEDGEHOG” signalling pathway has been implicated in cell-fate determination, proliferation and the patterning of many different cell types and organs. As the...
Malik, Sajid, Girisha, KM, Wajid, Muhammad, Roy, Akhilesh K, Phadke, Shubha R, Haque, Sayedul, ...
Abstract Background Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and...
An insight into the phylogenetic history of HOXlinked gene families in vertebrates (2007)
Abbasi, Amir, Grzeschik, Karl-Heinz
Abstract Background The human chromosomes 2q, 7, 12q and 17q show extensive intra-genomic homology, containing duplicate, triplicate and quadruplicate paralogous regions centered on the HOX gene...
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly (2007)
Gonzales-Menenses, Antonio, Grzeschik, Karl-Heinz, ...
Purpose Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by a distinct combination of craniofacial, hand and foot malformations. The hand and...
König, Arne, Happle, Rudolf, Fink-Puches, Regina, Soyer, Hans Peter, Bornholdt, Dorothea, Engel, Hartmut, ...
The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos. Recently, we...
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome (1999)
Kalff-Suske, Martha, Wild, Anja, Topp, Juliane, Wessling, Martina, Jacobsen, Eva-Maria, Bornholdt, Dorothea, ...
Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point...
Inge Krebs, Isabel Weis, Melanie Hudler, Johanna M. Rommens, Helmut Roth, Steven W. Scherer, ...
Saethre–Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial...
Vortkamp, Andrea, Gessler, Manfred, Paslier, D. Le, Elaswarapu, R., Smith, S., Grzeschik, Karl-Heinz
Disruption of the zinc finger gene GLI3 has been shown to be the cause of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS translocation patients. To characterize this genomic...
Organization and sequence of the gene encoding the human acrosin-trypsin inhibitor (HUSI-II) (1993)
Möritz, Annemarie, Grzeschik, Karl-Heinz, Wingender, Edgar, Fink, Edwin
A complete cDNA encoding the acrosin-trypsin inhibitor, HUSI-II, was used as a probe to isolate genomic clones from a human placenta library. Three clones which cover the entire HUSI-II gene were...
Wolf, Markus, Klug, Jörg, Hackenberg, Reinhard, Gessler, Manfred, Grzeschik, Karl-Heinz, Beato, Miguel, ...
Human and rat cDNAs to Clara Cell 10 kDa protein (CC10) have been previously isolated. Comparison of the amino acid sequences showed that CC10 is homologous to rabbit uteroglobin. Here we present...
Isolation and characterization of a hypervariable region [D4S163] on chromosome 4 (1990)
Neuweiler, John, Ruvolo, Vivian, Baum, Howard, Grzeschik, Karl-Heinz, Balazs, Ivan
Identification and characterization of a hypervariable region [D18S27] on chromosome 18 (1989)
Ip, Nancy Y., Loewy, Zvi G., Leary, Susan, Grzeschik, Karl-Heinz, Balazs, Ivan
Localization, analysis and evolution of transposed human immunoglobulin VK genes (1988)
Lötscher, Erika, Zimmer, Franz-Josef, Klopstock, Thomas, Grzeschik, Karl-Heinz, Jaenichen, Rita, Straubinger, Bernhard, ...
The localization of Vκ gene regions to chromosome 2, on which the κ locus is located, and to other chromosomes is described. The Vκ genes that have been transposed to other chromosomes are called...
Untersuchungen zur Systematik, Biologie und Ethologie von Eugaster Serville . (1968)
Münster, Math.-naturwiss. F., Diss. v. 14. Juni 1968 (Nicht f. d. Aust.).
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Isolation and characterization of a hypervariable region [D4S163] on chromosome 4
Neuweiler, John, Ruvolo, Vivian, Baum, Howard, Grzeschik, Karl-Heinz, Balazs, Ivan
Smeets, Hubert, Bachinski, Linda, Coerwinkel, Marga, Schepens, Jan, Hoeijmakers, Jan, Van Duin, Marcel, ...
We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy...
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Isolation and characterization of a hypervariable region [D4S163] on chromosome 4
Neuweiler, John, Ruvolo, Vivian, Baum, Howard, Grzeschik, Karl-Heinz, Balazs, Ivan
Smeets, Hubert, Bachinski, Linda, Coerwinkel, Marga, Schepens, Jan, Hoeijmakers, Jan, Van Duin, Marcel, ...
We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy...
Human GLI3 Intragenic Conserved Non-Coding Sequences Are Tissue-Specific Enhancers
Abbasi, Amir Ali, Paparidis, Zissis, Malik, Sajid, Goode, Debbie K., Callaway, Heather, Elgar, Greg, ...
The zinc-finger transcription factor GLI3 is a key regulator of development, acting as a primary transducer of Sonic hedgehog (SHH) signaling in a combinatorial context dependent fashion controlling...
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
Debeer, Philippe, Devriendt, Koen, De Smet, Luc, DeRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, ...
Evolution and Functional Diversification of the GLI Family of Transcription Factors in Vertebrates
Abbasi, Amir Ali, Goode, Debbie K., Amir, Saneela, Grzeschik, Karl-Heinz
Oeffner, Frank, Fischer, Gayle, Happle, Rudolf, König, Arne, Betz, Regina C., Bornholdt, Dorothea, ...
Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and...