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Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.
Published in:
European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 251, doi. 10.1007/s00431-004-1406-0
By:
- Richter-Unruh, Annette;
- Knauer-Fischer, Sabine;
- Kaspers, Stefan;
- Albrecht, Beate;
- Gillessen-Kaesbach, Gabriele;
- Hauffa, Berthold P.
Publication type:
Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110
By:
- Voigt, Claudia;
- Mégarbané, André;
- Neveling, Kornelia;
- Czeschik, Johanna Christina;
- Albrecht, Beate;
- Callewaert, Bert;
- Deimling, Florian von;
- Hehr, Andreas;
- Smeland, Marie Falkenberg;
- König, Rainer;
- Kuechler, Alma;
- Marcelis, Carlo;
- Puiu, Maria;
- Reardon, Willie;
- Riise Stensland, Hilde Monica Frostad;
- Schweiger, Bernd;
- Steehouwer, Marloes;
- Teller, Christopher;
- Martin, Marcel;
- Rahmann, Sven
Publication type:
Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
By:
- Nikkel, Sarah M.;
- Dauber, Andrew;
- De Munnik, Sonja;
- Connolly, Meghan;
- Hood, Rebecca L.;
- Caluseriu, Oana;
- Hurst, Jane;
- Kini, Usha;
- Nowaczyk, Malgorzata J. M.;
- Afenjar, Alexandra;
- Albrecht, Beate;
- Allanson, Judith E.;
- Balestri, Paolo;
- Ben-Omran, Tawfeg;
- Brancati, Francesco;
- Cordeiro, Isabel;
- Santos da Cunha, Bruna;
- Delaney, Louisa A.;
- Destrée, Anne;
- Fitzpatrick, David
Publication type:
Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Published in:
2013
By:
- Voigt, Claudia;
- Mégarbané, André;
- Neveling, Kornelia;
- Czeschik, Johanna Christina;
- Albrecht, Beate;
- Callewaert, Bert;
- von Deimling, Florian;
- Hehr, Andreas;
- Falkenberg Smeland, Marie;
- König, Rainer;
- Kuechler, Alma;
- Marcelis, Carlo;
- Puiu, Maria;
- Reardon, Willie;
- Riise Stensland, Hilde Monica Frostad;
- Schweiger, Bernd;
- Steehouwer, Marloes;
- Teller, Christopher;
- Martin, Marcel;
- Rahmann, Sven
Publication type:
journal article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Published in:
2013
By:
- Nikkel, Sarah M;
- Dauber, Andrew;
- de Munnik, Sonja;
- Connolly, Meghan;
- Hood, Rebecca L;
- Caluseriu, Oana;
- Hurst, Jane;
- Kini, Usha;
- Nowaczyk, Malgorzata J M;
- Afenjar, Alexandra;
- Albrecht, Beate;
- Allanson, Judith E;
- Balestri, Paolo;
- Ben-Omran, Tawfeg;
- Brancati, Francesco;
- Cordeiro, Isabel;
- da Cunha, Bruna Santos;
- Delaney, Louisa A;
- Destrée, Anne;
- Fitzpatrick, David
Publication type:
journal article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Published in:
2017
By:
- Syrbe, Steffen;
- Harms, Frederike L.;
- Parrini, Elena;
- Montomoli, Martino;
- Mütze, Ulrike;
- Helbig, Katherine L.;
- Polster, Tilman;
- Albrecht, Beate;
- Bernbeck, Ulrich;
- van Binsbergen, Ellen;
- Biskup, Saskia;
- Burglen, Lydie;
- Denecke, Jonas;
- Heron, Bénédicte;
- Heyne, Henrike O.;
- Hoffmann, Georg F.;
- Hornemann, Frauke;
- Takeshi Matsushige;
- Ryuki Matsuura;
- Mitsuhiro Kato
Publication type:
journal article
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 435, doi. 10.1002/ajmg.a.38034
By:
- Dennert, Nicola;
- Engels, Hartmut;
- Cremer, Kirsten;
- Becker, Jessica;
- Wohlleber, Eva;
- Albrecht, Beate;
- Ehret, Julia K.;
- Lüdecke, Hermann‐Josef;
- Suri, Mohnish;
- Carignani, Giulia;
- Renieri, Alessandra;
- Kukuk, Guido M.;
- Wieland, Thomas;
- Andrieux, Joris;
- Strom, Tim M.;
- Wieczorek, Dagmar;
- Dieux‐Coëslier, Anne;
- Zink, Alexander M.
Publication type:
Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
By:
- Hackmann, Karl;
- Rump, Andreas;
- Haas, Stefan A.;
- Lemke, Johannes R.;
- Fryns, Jean‐Pierre;
- Tzschach, Andreas;
- Wieczorek, Dagmar;
- Albrecht, Beate;
- Kuechler, Alma;
- Ripperger, Tim;
- Kobelt, Albrecht;
- Oexle, Konrad;
- Tinschert, Sigrid;
- Schrock, Evelin;
- Kalscheuer, Vera M.;
- Di Donato, Nataliya
Publication type:
Article
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
By:
- Allanson, Judith;
- Smith, Amanda;
- Hare, Heather;
- Albrecht, Beate;
- Bijlsma, Emilia;
- Dallapiccola, Bruno;
- Donti, Emilio;
- Fitzpatrick, David;
- Isidor, Bertrand;
- Lachlan, Katherine;
- Le Caignec, Cedric;
- Prontera, Paolo;
- Raas-Rothschild, Annick;
- Rogaia, Daniela;
- van Bon, Bregje;
- Aradhya, Swaroop;
- Crocker, Susan F.;
- Jarinova, Olga;
- McGowan-Jordan, Jean;
- Boycott, Kym
Publication type:
Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
By:
- Rivière, Jean-Baptiste;
- Mirzaa, Ghayda M;
- O'Roak, Brian J;
- Beddaoui, Margaret;
- Alcantara, Diana;
- Conway, Robert L;
- St-Onge, Judith;
- Schwartzentruber, Jeremy A;
- Gripp, Karen W;
- Nikkel, Sarah M;
- Worthylake, Thea;
- Sullivan, Christopher T;
- Ward, Thomas R;
- Butler, Hailly E;
- Kramer, Nancy A;
- Albrecht, Beate;
- Armour, Christine M;
- Armstrong, Linlea;
- Caluseriu, Oana;
- Cytrynbaum, Cheryl
Publication type:
Article
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
Published in:
Nature Genetics, 2000, v. 24, n. 1, p. 71, doi. 10.1038/71717
By:
- Momeni, Parastoo;
- Glöckner, Gernot;
- Schmidt, Olaf;
- von Holtum, Diane;
- Albrecht, Beate;
- Gillessen-Kaesbach, Gabriele;
- Hennekam, Raoul;
- Meinecke, Peter;
- Zabel, Bernhard;
- Rosenthal, André;
- Horsthemke, Bernhard;
- Lüdecke, Hermann-Josef
Publication type:
Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
By:
- Bramswig, Nuria C.;
- Bertoli-Avella, Aida M.;
- Albrecht, Beate;
- Al Aqeel, Aida I.;
- Alhashem, Amal;
- Al-Sannaa, Nouriya;
- Bah, Maissa;
- Bröhl, Katharina;
- Depienne, Christel;
- Dorison, Nathalie;
- Doummar, Diane;
- Ehmke, Nadja;
- Elbendary, Hasnaa M.;
- Gorokhova, Svetlana;
- Héron, Delphine;
- Horn, Denise;
- James, Kiely;
- Keren, Boris;
- Kuechler, Alma;
- Ismail, Samira
Publication type:
Article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
By:
- Bramswig, Nuria;
- Lüdecke, Hermann-Josef;
- Alanay, Yasemin;
- Albrecht, Beate;
- Barthelmie, Alexander;
- Boduroglu, Koray;
- Braunholz, Diana;
- Caliebe, Almuth;
- Chrzanowska, Krystyna;
- Czeschik, Johanna;
- Endele, Sabine;
- Graf, Elisabeth;
- Guillén-Navarro, Encarna;
- Kiper, Pelin;
- López-González, Vanesa;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Utine, Gulen;
- Wieland, Thomas;
- Kaiser, Frank
Publication type:
Article
De novo mutations in beta- catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Published in:
Human Genetics, 2015, v. 134, n. 1, p. 97, doi. 10.1007/s00439-014-1498-1
By:
- Kuechler, Alma;
- Willemsen, Marjolein;
- Albrecht, Beate;
- Bacino, Carlos;
- Bartholomew, Dennis;
- Bokhoven, Hans;
- den Boogaard, Marie;
- Bramswig, Nuria;
- Büttner, Christian;
- Cremer, Kirsten;
- Czeschik, Johanna;
- Engels, Hartmut;
- Gassen, Koen;
- Graf, Elisabeth;
- Haelst, Mieke;
- He, Weimin;
- Hogue, Jacob;
- Kempers, Marlies;
- Koolen, David;
- Monroe, Glen
Publication type:
Article
A mutation screen in patients with Kabuki syndrome.
Published in:
Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y
By:
- Li, Yun;
- Bögershausen, Nina;
- Alanay, Yasemin;
- Simsek Kiper, Pelin;
- Plume, Nadine;
- Keupp, Katharina;
- Pohl, Esther;
- Pawlik, Barbara;
- Rachwalski, Martin;
- Milz, Esther;
- Thoenes, Michaela;
- Albrecht, Beate;
- Prott, Eva-Christina;
- Lehmkühler, Margret;
- Demuth, Stephanie;
- Utine, Gülen;
- Boduroglu, Koray;
- Frankenbusch, Katja;
- Borck, Guntram;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
Identification of copy number variants associated with BPES-like phenotypes.
Published in:
Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
By:
- Gijsbers, Antoinet C. J.;
- D'haene, Barbara;
- Hilhorst-Hofstee, Yvonne;
- Mannens, Marcel;
- Albrecht, Beate;
- Seidel, Joerg;
- Witt, David R.;
- Maisenbacher, Melissa K.;
- Loeys, Bart;
- van Essen, Ton;
- Bakker, Egbert;
- Hennekam, Raoul;
- Breuning, Martijn H.;
- De Baere, Elfride;
- Ruivenkamp, Claudia A. L.
Publication type:
Article
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Published in:
Human Genetics, 2003, v. 114, n. 1, p. 51, doi. 10.1007/s00439-003-1016-3
By:
- Starke, Heike;
- Nietzel, Angela;
- Weise, Anja;
- Heller, Anita;
- Mrasek, Kristin;
- Belitz, Britta;
- Kelbova, Christine;
- Volleth, Marianne;
- Albrecht, Beate;
- Mitulla, Beate;
- Trappe, Ralf;
- Bartels, Iris;
- Adolph, Sabine;
- Dufke, Andreas;
- Singer, Sylke;
- Stumm, Markus;
- Wegner, Rolf-Dieter;
- Seidel, Jörg;
- Schmidt, Angela;
- Kuechler, Alma
Publication type:
Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
By:
- Verloes, Alain;
- Di Donato, Nataliya;
- Masliah-Planchon, Julien;
- Jongmans, Marjolijn;
- Abdul-Raman, Omar A;
- Albrecht, Beate;
- Allanson, Judith;
- Brunner, Han;
- Bertola, Debora;
- Chassaing, Nicolas;
- David, Albert;
- Devriendt, Koen;
- Eftekhari, Pirayeh;
- Drouin-Garraud, Valérie;
- Faravelli, Francesca;
- Faivre, Laurence;
- Giuliano, Fabienne;
- Guion Almeida, Leina;
- Juncos, Jorge;
- Kempers, Marlies
Publication type:
Article
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
By:
- Tran Mau-Them, Frederic;
- Willems, Marjolaine;
- Albrecht, Beate;
- Sanchez, Elodie;
- Puechberty, Jacques;
- Endele, Sabine;
- Schneider, Anouck;
- Ruiz Pallares, Nathalie;
- Missirian, Chantal;
- Rivier, Francois;
- Girard, Manon;
- Holder, Muriel;
- Manouvrier, Sylvie;
- Touitou, Isabelle;
- Lefort, Genevieve;
- Sarda, Pierre;
- Moncla, Anne;
- Drunat, Severine;
- Wieczorek, Dagmar;
- Genevieve, David
Publication type:
Article
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 6, p. 656, doi. 10.1038/ejhg.2009.244
By:
- Kuechler, Amla;
- Hauffa, Berthold P.;
- Köninger, Angela;
- Kleinau, Gunnar;
- Albrecht, Beate;
- Horsthemke, Bernhard;
- Gromoll, Jörg
Publication type:
Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
By:
- Neumann, Thomas E.;
- Allanson, Judith;
- Kavamura, Ines;
- Kerr, Bronwyn;
- Neri, Giovanni;
- Noonan, Jacqueline;
- Cordeddu, Viviana;
- Gibson, Kate;
- Tzschach, Andreas;
- Krüger, Gabriele;
- Hoeltzenbein, Maria;
- Goecke, Timm O.;
- Kehl, Hans Gerd;
- Albrecht, Beate;
- Luczak, Klaudiusz;
- Sasiadek, Maria M;
- Musante, Luciana;
- Laurie, Rohan;
- Peters, Hartmut;
- Tartaglia, Marco
Publication type:
Article
IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 328, doi. 10.1038/sj.ejhg.5201974
By:
- Zeschnigk, Michael;
- Albrecht, Beate;
- Buiting, Karin;
- Kanber, Deniz;
- Eggermann, Thomas;
- Binder, Gerhard;
- Gromoll, Jörg;
- Prott, Eva-Christina;
- Seland, Saskia;
- Horsthemke, Bernhard
Publication type:
Article
Childhood overgrowth in patients with common NF1 microdeletions.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 7, p. 883, doi. 10.1038/sj.ejhg.5201419
By:
- Spiegel, Miriam;
- Oexle, Konrad;
- Horn, Denise;
- Windt, Elke;
- Buske, Annegret;
- Albrecht, Beate;
- Prott, Eva-Christina;
- Seemanová, Eva;
- Seidel, Joerg;
- Rosenbaum, Thorsten;
- Jenne, Dieter;
- Kehrer-Sawatzki, Hildegard;
- Tinschert, Sigrid
Publication type:
Article
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201260
By:
- Altug Teber, Ö;
- Gillessen-Kaesbach, Gabriele;
- Fischer, Sven;
- Bü#hringer, Stefan;
- Albrecht, Beate;
- Albert, Angelika;
- Arslan-Kirchner, Mine;
- Haan, Eric;
- Hagedorn-greiwe, Monika;
- Hammans, Christof;
- Henn, Wolfram;
- Hinkel, Georg Klaus;
- Rainer König;
- Kunstmann, Erdmute;
- Kunze, Jürgen;
- Neumannw, Kunzew, Luitgard M;
- Prott, Eva-christina;
- Rauch, Anita;
- Rott, Hans-dieter;
- Seide, Heide
Publication type:
Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
By:
- Türkmen, Seval;
- Gillessen-Kaesbach, Gabriele;
- Meinecke, Peter;
- Albrecht, Beate;
- Neumann, Luitgard M.;
- Hesse, Volker;
- Palanduz, Sükrü;
- Balg, Stefanie;
- Majewski, Frank;
- Fuchs, Sigrun;
- Zschieschang, Petra;
- Greiwe, Monika;
- Mennicke, Kirsten;
- Kreuz, Friedmar R.;
- Dehmel, Harald J.;
- Rodeck, Burkhard;
- Kunze, Jürgen;
- Tinschert, Sigrid;
- Mundlos, Stefan;
- Horn, Denise
Publication type:
Article
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 12, p. 790, doi. 10.1038/sj.ejhg.5200889
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
Publication type:
Article
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200498
By:
- Wieczorek, Dagmar;
- Krause, Mario;
- Majewski, Frank;
- Albrecht, Beate;
- Horn, Denise;
- Riess, Olaf;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Published in:
European Journal of Human Genetics, 1998, v. 6, n. 5, p. 432, doi. 10.1038/sj.ejhg.5200212
By:
- Karadima, Georgia;
- Bugge, Merete;
- Nicolaidis, Peter;
- Vassilopoulos, Dimitris;
- Avramopoulos, Dimitris;
- Grigoriadou, Maria;
- Albrecht, Beate;
- Passarge, Eberhard;
- Annerén, Göran;
- Blennow, Elisabeth;
- Clausen, Niels;
- Galla-Voumvouraki, Angeliki;
- Tsezou, Aspasia;
- Kitsiou-Tzeli, Sofia;
- Hahnemann, Johanne M;
- Hertz, Jens M;
- Houge, Gunnar;
- Kuklík, Miloslav;
- Macek, Milan
Publication type:
Article
ANKRD11 variants: KBG syndrome and beyond.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
By:
- Parenti, Ilaria;
- Mallozzi, Mark B.;
- Hüning, Irina;
- Gervasini, Cristina;
- Kuechler, Alma;
- Agolini, Emanuele;
- Albrecht, Beate;
- Baquero‐Montoya, Carolina;
- Bohring, Axel;
- Bramswig, Nuria C.;
- Busche, Andreas;
- Dalski, Andreas;
- Guo, Yiran;
- Hanker, Britta;
- Hellenbroich, Yorck;
- Horn, Denise;
- Innes, A. Micheil;
- Leoni, Chiara;
- Li, Yun R.;
- Lynch, Sally Ann
Publication type:
Article
Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Published in:
Clinical Genetics, 2019, v. 96, n. 3, p. 246, doi. 10.1111/cge.13565
By:
- Sinibaldi, Lorenzo;
- Parisi, Valentina;
- Lanciotti, Silvia;
- Fontana, Paolo;
- Kuechler, Alma;
- Baujat, Genevieve;
- Torres, Barbara;
- Koetting, Judith;
- Splendiani, Alessandra;
- Postorivo, Diana;
- Beygo, Jasmin;
- Garaci, Francesco G.;
- Malan, Valerie;
- Lüdecke, Hermann‐Josef;
- Guida, Valentina;
- Krumbiegel, Mandy;
- Lonardo, Fortunato;
- Novelli, Antonio;
- Albrecht, Beate;
- Perria, Chiara
Publication type:
Article
The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism?
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 668, doi. 10.1002/mgg3.324
By:
- Eggermann, Thomas;
- Oehl‐Jaschkowitz, Barbara;
- Dicks, Severin;
- Thomas, Wolfgang;
- Kanber, Deniz;
- Albrecht, Beate;
- Begemann, Matthias;
- Kurth, Ingo;
- Beygo, Jasmin;
- Buiting, Karin
Publication type:
Article
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366
By:
- Wieczorek, Dagmar;
- Bögershausen, Nina;
- Beleggia, Filippo;
- Steiner-Haldenstätt, Sabine;
- Pohl, Esther;
- Li, Yun;
- Milz, Esther;
- Martin, Marcel;
- Thiele, Holger;
- Altmüller, Janine;
- Alanay, Yasemin;
- Kayserili, Hülya;
- Klein-Hitpass, Ludger;
- Böhringer, Stefan;
- Wollstein, Andreas;
- Albrecht, Beate;
- Boduroglu, Koray;
- Caliebe, Almuth;
- Chrzanowska, Krystyna;
- Cogulu, Ozgur
Publication type:
Article
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
By:
- Nizon, Mathilde;
- Huber, Céline;
- De Leonardis, Fabio;
- Merrina, Rodolphe;
- Forlino, Antonella;
- Fradin, Mélanie;
- Tuysuz, Beyhan;
- Abu-Libdeh, Bassam Y.;
- Alanay, Yasemin;
- Albrecht, Beate;
- Al-Gazali, Lihadh;
- Basaran, Sarenur Yilmaz;
- Clayton-Smith, Jill;
- Désir, Julie;
- Gill, Harinder;
- Greally, Marie T.;
- Koparir, Erkan;
- van Maarle, Merel C;
- MacKay, Sara;
- Mortier, Geert
Publication type:
Article
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
Published in:
Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462
By:
- Callewaert, Bert;
- Renard, Marjolijn;
- Hucthagowder, Vishwanathan;
- Albrecht, Beate;
- Hausser, Ingrid;
- Blair, Edward;
- Dias, Cristina;
- Albino, Alice;
- Wachi, Hiroshi;
- Sato, Fumiaki;
- Mecham, Robert P.;
- Loeys, Bart;
- Coucke, Paul J.;
- De Paepe, Anne;
- Urban, Zsolt
Publication type:
Article
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Published in:
Human Mutation, 2008, v. 29, n. 9, p. 1141, doi. 10.1002/humu.20771
By:
- Buiting, Karin;
- Kanber, Deniz;
- Martín-Subero, José I.;
- Lieb, Wolfgang;
- Terhal, Paulien;
- Albrecht, Beate;
- Purmann, Sabine;
- Gross, Stephanie;
- Lich, Christina;
- Siebert, Reiner;
- Horsthemke, Bernhard;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
Published in:
Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9396
By:
- Borozdin, Wiktor;
- Steinmann, Katharina;
- Albrecht, Beate;
- Bottani, Armand;
- Devriendt, Koenraad;
- Leipoldt, Michael;
- Kohlhase, Jürgen
Publication type:
Article
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Published in:
Biological Chemistry, 2005, v. 386, n. 1, p. 61, doi. 10.1515/BC.2005.008
By:
- Jenne, Dieter E.;
- Kley, Rudi A.;
- Vorgerd, Matthias;
- Schröder, J. Michael;
- Weis, Joachim;
- Reimann, Heike;
- Albrecht, Beate;
- Nürnberg, Peter;
- Thiele, Holger;
- Müller, Clemens R.;
- Meng, Gerhard;
- Witt, Christian C.;
- Labeit, Siegfried
Publication type:
Article

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