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Beate Albrecht

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Thomas Eggermann; S Spengler; Beate Albrecht; M Begemann; G Binder; Karin Buiting; Stephanie Spranger
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
Ozgür Albayrak; Beate Albrecht; Susann Scherag; Nikolaus Barth; Anke Hinney; Johannes Hebebrand
Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder.
Anne Gregor; Karl Hackmann; Denise Horn; Juliane Hoyer; Jakub Klapecki; Jürgen Kohlhase; Isabelle Maystadt; Sandra Nagl; Eva Prott; Anita Rauch; André Reis; Sigrid Tinschert; Reinhard Ullmann; Eva Wohlleber; Geoffrey Woods; Beate Albrecht; Ingrid Bader; Emilia K Bijlsma; Arif B Ekici; Hartmut Engels; Christiane Zweier
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

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All Publications

2012: Thomas Eggermann; S Spengler; Beate Albrecht; M Begemann; G Binder; Karin Buiting; Stephanie Spranger
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
Clinical genetics 2012;81(3):298-300.
2011: Ozgür Albayrak; Beate Albrecht; Susann Scherag; Nikolaus Barth; Anke Hinney; Johannes Hebebrand
Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder.
European journal of pharmacology 2011;660(1):165-70.
2011: Anne Gregor; Karl Hackmann; Denise Horn; Juliane Hoyer; Jakub Klapecki; Jürgen Kohlhase; Isabelle Maystadt; Sandra Nagl; Eva Prott; Anita Rauch; André Reis; Sigrid Tinschert; Reinhard Ullmann; Eva Wohlleber; Geoffrey Woods; Beate Albrecht; Ingrid Bader; Emilia K Bijlsma; Arif B Ekici; Hartmut Engels; Christiane Zweier
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC medical genetics 2011;12():106.
2010: Beate Albrecht; Arjan P de Brouwer; Dirk J Lefeber; Kirsten Cremer; Ingrid Hausser; Nick Rossen; Saskia B Wortmann; Ron A Wevers; Uwe Kornak; Eva Morava
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
American journal of medical genetics. Part A 2010;152A(11):2916-8.
2010: Alma Kuechler; Berthold P Hauffa; Angela Köninger; Gunnar Kleinau; Beate Albrecht; Bernhard Horsthemke; Jörg Gromoll
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.
European journal of human genetics : EJHG 2010;18(6):656-61.
2009: Thomas E Neumann; Judith Allanson; Ines Kavamura; Bronwyn Kerr; Giovanni Neri; Jacqueline Noonan; Viviana Cordeddu; Kate Gibson; Andreas Tzschach; Gabriele Krüger; Maria Hoeltzenbein; Timm O Goecke; Hans Gerd Kehl; Beate Albrecht; Klaudiusz Luczak; Maria M Sasiadek; Luciana Musante; Rohan Laurie; Hartmut Peters; Marco Tartaglia; Martin Zenker; Vera Kalscheuer
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
European journal of human genetics : EJHG 2009;17(4):420-5.
2008: Karin Buiting; Deniz Kanber; José I Martín-Subero; Wolfgang Lieb; Paulien Terhal; Beate Albrecht; Sabine Purmann; Stephanie Gross; Christina Lich; Reiner Siebert; Bernhard Horsthemke; Gabriele Gillessen-Kaesbach
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Human mutation 2008;29(9):1141-6.
2008: Michael Zeschnigk; Beate Albrecht; Karin Buiting; Deniz Kanber; Thomas Eggermann; Gerhard Binder; Jörg Gromoll; Eva-Christina Prott; Saskia Seland; Bernhard Horsthemke
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
European journal of human genetics : EJHG 2008;16(3):328-34.
2008: A L Schulz; Beate Albrecht; C Arici; Ineke van der Burgt; Annegret Buske; Gabriele Gillessen-Kaesbach; R Heller; Denise Horn; C A Hübner; Georg Christoph Korenke; Rainer König; Wolfram Kress; G Krüger; Peter Meinecke; J Mücke; Barbara Plecko; E Rossier; Albert Schinzel; A Schulze; Eva Seemanova; Heide Seidel; Stephanie Spranger; B Tuysuz; S Uhrig; Dagmar Wieczorek; Kerstin Kutsche; M Zenker
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clinical genetics 2008;73(1):62-70.
2006: W Seifert; M Holder-Espinasse; Stephanie Spranger; Maria Hoeltzenbein; E Rossier; Hélène Dollfus; D Lacombe; Alain Verloes; Krystyna H Chrzanowska; Gustavo Maegawa; D Chitayat; Dieter Kotzot; D Huhle; Peter Meinecke; Beate Albrecht; I Mathijssen; Bruno Leheup; K Raile; Hans Christian Hennies; Denise Horn
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Journal of medical genetics 2006;43(5):e22.
2006: Wiktor Borozdin; Katharina Steinmann; Beate Albrecht; Armand Bottani; koenraad devriendt; Michael Leipoldt; Juergen Kohlhase
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.
Human mutation 2006;27(2):211-2.
2005: Christiane Tasse; Stefan Boehringer; Sven Fischer; Hermann-Josef Lüdecke; Beate Albrecht; Denise Horn; Andreas R Janecke; Rainer Kling; Rainer König; Birgit Lorenz; Frank Majewski; Elisabeth Maeyens; Peter Meinecke; Beate Mitulla; Christopher Mohr; Monika Preischl; Horst Umstadt; Juergen Kohlhase; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
European journal of medical genetics 2005;48(4):397-411.
2005: Miriam Spiegel; Konrad Oexle; Denise Horn; Elke Windt; Annegret Buske; Beate Albrecht; Eva-Christina Prott; Eva Seemanová; Joerg Seidel; Thorsten Rosenbaum; Dieter E Jenne; Hildegard Kehrer-Sawatzki; Sigrid Tinschert
Childhood overgrowth in patients with common NF1 microdeletions.
European journal of human genetics : EJHG 2005;13(7):883-8.
2005: Joyce So; Vanessa Suckow; Zofia Kijas; Vera Kalscheuer; Bettina Moser; Jennifer Winter; Marieke Baars; Helen V Firth; Peter Lunt; Ben Hamel; Peter Meinecke; Claude Moraine; Sylvie Odent; Albert Schinzel; Jasper van der Smagt; koenraad devriendt; Beate Albrecht; Gabriele Gillessen-Kaesbach; Ineke van der Burgt; Fred Petrij; Laurence Faivre; Julie McGaughran; Fiona McKenzie; John M Opitz; Timothy Cox; Susann Schweiger
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
2004: Ozge Altug Teber; Gabriele Gillessen-Kaesbach; Sven Fischer; Stefan Boehringer; Beate Albrecht; Angelika Albert; Mine Arslan-Kirchner; Eric Haan; Monika Hagedorn-Greiwe; Christof Hammans; Wolfram Henn; Georg Klaus Hinkel; Rainer König; Erdmute Kunstmann; Jürgen Kunze; Luitgard M Neumann; Eva-Christina Prott; Anita Rauch; Hans-Dieter Rott; Heide Seidel; Stephanie Spranger; Martin Sprengel; Barbara Zoll; Dietmar R Lohmann; Dagmar Wieczorek
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
European journal of human genetics : EJHG 2004;12(11):879-90.
2003: Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Human genetics 2003;114(1):51-67.
2003: Seval Türkmen; Gabriele Gillessen-Kaesbach; Peter Meinecke; Beate Albrecht; Luitgard M Neumann; Volker Hesse; Sukru Palanduz; Stefanie Balg; Frank Majewski; Sigrun Fuchs; Petra Zschieschang; Monika Greiwe; Kirsten Mennicke; Friedmar R Kreuz; Harald J Dehmel; Burkhard Rodeck; Jürgen Kunze; Sigrid Tinschert; Stefan Mundlos; Denise Horn
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
European journal of human genetics : EJHG 2003;11(11):858-65.
2003: Angela Nietzel; Beate Albrecht; Heike Starke; Anita Heller; G Gillessen-Kaesbach; Uwe Claussen; Thomas Liehr
Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report.
Journal of medical genetics 2003;40(3):e28.
2002: Heike Starke; Jörg Seidel; Wolfram Henn; Sylvia Reichardt; Marianne Volleth; Markus Stumm; Christine Behrend; Klaus R Sandig; Christine Kelbova; Gabriele Senger; Beate Albrecht; Ingo Hansmann; Anita Heller; Uwe Claussen; Thomas Liehr
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
European journal of human genetics : EJHG 2002;10(12):790-800.
2002: Christiane Zweier; Beate Albrecht; Beate Mitulla; Rolf Behrens; Maike Beese; Gabriele Gillessen-Kaesbach; Hans-Dieter Rott; Anita Rauch
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
American journal of medical genetics 2002;108(3):177-81.
2001: Beate Albrecht; Susanne Mergenthaler; Katja Eggermann; Klaus Zerres; Eberhard Passarge; Thomas Eggermann
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).
Journal of medical genetics 2001;38(3):214.
2000: Dagmar Wieczorek; M Krause; Frank Majewski; Beate Albrecht; Peter Meinecke; Olaf Riess; Gabriele Gillessen-Kaesbach
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
Journal of medical genetics 2000;37(10):798-804.
2000: Dagmar Wieczorek; M Krause; Frank Majewski; Beate Albrecht; Denise Horn; Olaf Riess; Gabriele Gillessen-Kaesbach
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
European journal of human genetics : EJHG 2000;8(7):519-26.
2000: P Momeni; G Glöckner; O Schmidt; D von Holtum; Beate Albrecht; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Peter Meinecke; B Zabel; A Rosenthal; Bernhard Horsthemke; Hermann-Josef Lüdecke
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
Nature genetics 2000;24(1):71-4.
1998: GEORGIA KARADIMA; Merete Bugge; P Nicolaidis; Dimitrios Vassilopoulos; Dimitrios Avramopoulos; Maria Grigoriadou; Beate Albrecht; Eberhard Passarge; Göran Annerén; Elisabeth Blennow; Niels Clausen; Angeliki Galla-Voumvouraki; Aspasia Tsezou; Sophia Kitsiou-Tzeli; Johanne M D Hahnemann; Jens Michael Hertz; Gunnar Houge; M Kuklík; Milan Macek Jr.; D Lacombe; K Miller; A Moncla; I López Pajares; Philippos C Patsalis; Michael B Petersen
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
European journal of human genetics : EJHG 1998;6(5):432-8.
1997: W Doerfler; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Beate Albrecht; Eberhard Passarge
Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.
American journal of medical genetics 1997;73(2):210-6.