Lüdecke, Hermann-Josef: search on Z-Library

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1

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

Dennert, Nicola, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Wohlleber, Eva, Albrecht, Beate, Ehret, Julia K., Lüdecke, Hermann-Josef, Suri, Mohnish, Carignani, Giulia, Renieri, Alessandra, Kuk

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 792 KB

english, 2016

2

Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected

Kirsten Cremer, Hermann-Josef Lüdecke, Frauke Ruhr, Dagmar Wieczorek

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 170 KB

english, 2008

3

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Ch

Journal:

Year:

2015

Language:

english

File:

PDF, 865 KB

english, 2015

4

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Czeschik, Johanna, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Debora

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.62 MB

english, 2013

5

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

Kumar, Raman, Gardner, Alison, Homan, Claire C., Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessic

Journal:

Year:

2018

Language:

english

File:

PDF, 2.36 MB

english, 2018

6

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann-Josef Lüdecke, Bekir Sitki Sayli, Ugo E. Pazzaglia, Geert Mortier, Ben Hamel, Ern

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 327 KB

english, 1998

7

Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region

Hampton, Garret, Leuteritz, Gabriele, Lüdecke, Hermann-Josef, Senger, Gabriele, Trautmann, Udo, Thomas, Huw, Solomon, Ellen, Bodmer, Walter F., Horsthemke, Bernhard, Claussen, Uwe, Ballhausen, Wolfgan

Journal:

Year:

1991

Language:

english

File:

PDF, 2.24 MB

english, 1991

8

HeterozygousHNRNPUvariants cause early onset epilepsy and severe intellectual disability

Bramswig, Nuria C., Lüdecke, Hermann-Josef, Hamdan, Fadi F., Altmüller, Janine, Beleggia, Filippo, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G.,

Journal:

Year:

2017

Language:

english

File:

PDF, 798 KB

english, 2017

9

SUMOylation modulates transcriptional repression by TRPS1

Kaiser, Frank J., Lüdecke, Hermann-Josef, Weger, Stefan

Journal:

Biological Chemistry

Year:

2007

Language:

english

File:

PDF, 297 KB

english, 2007

10

Asp700 RFLP at the D8S45 locus

Horsthemke, Bernhard, Burdiek, Ruth, Lüdecke, Hermann-Josef

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 77 KB

english, 1990

11

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

Mark A. Bernard, Catherine E. Hall, Deborah A. Hogue, William G. Cole, Allison Scott, Mark B. Snuggs, Gregory A. Clines, Hermann-Josef Lüdecke, Michael Lovett, W. Barry Van Winkle, Jacqueline T. Hecht

Journal:

Year:

2001

Language:

english

File:

PDF, 454 KB

english, 2001

12

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Wim Wuyts, Dominique Roland, Hermann-Josef Lüdecke, Jan Wauters, Martine Foulon, Wim Van Hul, Lionel Van Maldergem

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 235 KB

english, 2002

13

Expression of Trps1 during mouse embryonic development

Melanie Kunath, Hermann-Josef Lüdecke, Andrea Vortkamp

Journal:

Mechanisms of Development

Year:

2002

Language:

english

File:

PDF, 645 KB

english, 2002

14

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, Christophe Richez, Laurence Taine, Alexandra Foubert-Samier, Benoit Arveiler, Thierry Schaeverbeke, Didier Lacombe, François Tison, Cyril Goizet

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 526 KB

english, 2011

15

Somatic Cell Hybrid and Long-Range Physical Mapping of 11p13 Microdissected Genomic Clones

Lisa M. Davis, Gabriele Senger, Hermann-Josef Ludecke, Uwe Claussen, Bernhard Horsthemke, Sherry S. Zhang, BernhardMetzroth, Katharina Hohenfellner, Bernhard Zabel and Thomas B. Shows

Journal:

Proceedings of the National Academy of Sciences

Year:

1990

Language:

english

File:

PDF, 1.26 MB

english, 1990

16

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Diana Mitter, Barbara Delle Chiaie, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Axel Bohring, Jürgen Kohlhase, Almuth Caliebe, Reiner Siebert, Albrecht Roepke, Maria A. Ramos-Arroyo, Beatriz N

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 372 KB

english, 2010

17

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 733 KB

english, 2016

18

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11

Alisoun H. Carey, Uwe Claussen, Hermann-Josef Lüdecke, Bernhard Horsthemke, David Ellis, Helena Oakey, David Wilson, John Burn, Robert Williamson, Peter J. Scambler

Journal:

Mammalian Genome

Year:

1992

Language:

english

File:

PDF, 553 KB

english, 1992

19

Three RFLPs at the D8S49 locus

Horsthemke, Bernhard, Burdiek, Ruth, Lüdecke, Hermann-Josef

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 71 KB

english, 1990

20

10.1038/71717

Lüdecke, Hermann-Josef, Momeni, Parastoo, Glöckner, Gernot, Schmidt, Olaf, von Holtum, Diane, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, Hennekam, Raoul, Meinecke, Peter, Zabel, Bernhard, Rosentha

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 431 KB

english, 2000

21

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

Czeschik, Johanna Christina, Voigt, Claudia, Goecke, Timm O., Lüdecke, Hermann-Josef, Wagner, Nicholas, Kuechler, Alma, Wieczorek, Dagmar

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 233 KB

english, 2013

22

Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification

Lüdecke, Hermann-Josef, Senger, Gabriele, Claussen, Uwe, Horsthemke, Bernhard

Journal:

Year:

1989

File:

PDF, 350 KB

1989

23

Microdissection of banded human chromosomes

Gabriele Senger, Hermann-Josef Lüdecke, Bernhard Horsthemke, Uwe Claussen

Journal:

Year:

1990

Language:

english

File:

PDF, 1.09 MB

english, 1990

24

Construction and characterization of band-specific DNA libraries

Hermann-Josef Lüdecke, Gabriele Senger, Uwe Claussen, Bernhard Horsthemke

Journal:

Year:

1990

Language:

english

File:

PDF, 567 KB

english, 1990

25

Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

Alan L. Shanske, Ankita Patel, Sou Saukam, Brynn Levy, Hermann-Josef Lüdecke

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

26

The RING Finger Protein RNF4, a Co-regulator of Transcription, Interacts with the TRPS1 Transcription Factor

Kaiser, Frank J., Möröy, Tarik, Chang, Glenn T. G., Horsthemke, Bernhard, Lüdecke, Hermann-Josef

Journal:

Journal of Biological Chemistry

Year:

2003

Language:

english

File:

PDF, 738 KB

english, 2003

27

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome

Czeschik, Johanna Christina, Albrecht, Beate, Kayserili, Hülya, Kuechler, Alma, Wagner, Nicholas, Wieczorek, Dagmar, Lüdecke, Hermann-Josef

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 356 KB

english, 2014

28

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

Fryssira, Helen, Amenta, Stella, Kanber, Deniz, Sofocleous, Christalena, Lykopoulou, Evangelia, Kanaka-Gantenbein, Christina, Cerrato, Flavia, Lüdecke, Hermann-Josef, Bens, Susanne, Riccio, Andrea, Bu

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

29

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Kaiser, Frank J, Brega, Paola, Raff, Michael L, Byers, Peter H, Gallati, Sabina, Kay, Teresa Taylor, de Almeida, Salomé, Horsthemke, Bernhard, Lüdecke, Hermann-Josef

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 167 KB

english, 2003

30

Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation

Tasic, Velibor, Gucev, Zoran, Ristoska-Bojkovska, Nadica, Janchevska, Aleksandra, Lüdecke, Hermann-Josef

Journal:

Year:

2014

Language:

english

File:

PDF, 217 KB

english, 2014

31

Microdissection of chromosome band 11 p 15.5: Characterization of probes mapping distal to the HBBC locus

Irene Newsham, Uwe Claussen, Hermann-Josef Lüdecke, Michelle Mason, Gabriele Senger, Bernhard Horsthemke, Webster Cavenee

Journal:

Genes, Chromosomes and Cancer

Year:

1991

Language:

english

File:

PDF, 1.57 MB

english, 1991

32

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Beygo, Jasmin, Küchler, Alma, Gillessen-Kaesbach, Gabriele, Albrecht, Beate, Eckle, Jonas, Eggermann, Thomas, Gellhaus, Alexandra, Kanber, Deniz, Kordaß, Ulrike, Lüdecke, Hermann-Josef, Purmann, Sabin

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.29 MB

english, 2017

33

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.98 MB

english, 2015

34

Trichorhinophalangeal Syndrome Type I

Seitz, Cornelia Sabine, Lüdecke, Hermann-Josef, Wagner, Nicola, Bröcker, Eva-Bettina, Hamm, Henning

Journal:

Archives of Dermatology

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

35

Two RFLPs at the D8S50 locus

Horsthemke, Bernhard, Burdiek, Ruth, Lüdecke, Hermann-Josef

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 71 KB

english, 1990

36

New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22

Fiedler, Wolfgang, Claussen, Uwe, Lüdecke, Hermann-Josef, Senger, Gabriele, Horsthemke, Bernhard, Geurts Van Kessel, Ad, Goertzen, Winfried, Fahsold, Raimund

Journal:

Year:

1991

Language:

english

File:

PDF, 792 KB

english, 1991

37

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Le

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 488 KB

english, 2016

38

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

C. A. Brandt, Hermann-Josef Lüdecke, Johnny Hindkjær, Helle Strømkjær, Daniel Pinkel, Troels Herlin, Lars Bolund, Ursula Friedrich

Journal:

Year:

1997

Language:

english

File:

PDF, 240 KB

english, 1997

39

Sacl RFLPs at the D8S51 locus

Horsthemke, Bernhard, Burdiek, Ruth, Lüdecke, Hermann-Josef

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 84 KB

english, 1990

40

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobbe

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 4.38 MB

english, 2015

41

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke, Beate Albrecht, Denise Horn, Andreas Janecke, Rainer Kling, Rainer König, Birgit Lorenz, Frank Majewski, Elisabeth Maeyens, Pet

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 378 KB

english, 2005

42

A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus

Davis, Lisa M., Zabel, Bernhard, Senger, Gabriele, Lüdecke, Hermann-Josef, Metzroth, Bernhard, Call, Katherine, Housman, David, Claussen, Uwe, Horsthemke, Bernhard, Shows, Thomas B.

Journal:

Year:

1991

Language:

english

File:

PDF, 1.67 MB

english, 1991

43

A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8

Pillo, Biagio La, Lüdecke, Hermann-Josef, Thiesen, Hans-Jürgen, Horsthemke, Bernhard

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.58 MB

english, 1993

44

A Human Pseudoautosomal Gene Encodes the ANT3 ADP/ATP Translocase and Escapes X-Inactivation

Rima Slim, Jacqueline Levilliers, Hermann-Josef Lüdecke, Uwe Claussen, Van Cong Nguyen, Nicholas M. Gough, Bernhard Horsthemke, Christine Petit

Journal:

Year:

1993

File:

PDF, 594 KB

1993

45

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Ahn, Jung, Lüdecke, Hermann-Josef, Lindow, Steffi, Horton, William A., Lee, Brendan, Wagner, Michael J., Horsthemke, Bernhard, Wells, Dan E.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 873 KB

1995

46

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

Czeschik, Johanna Christina, Hehr, Ute, Hartmann, Britta, Lüdecke, Hermann-Josef, Rosenbaum, Thorsten, Schweiger, Bernd, Wieczorek, Dagmar

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 943 KB

english, 2013

47

Four RFLPs at the D8S42 locus

Horsthemke, Bernhard, Burdiek, Ruth, Lüdecke, Hermann-Josef

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 1.18 MB

english, 1990

48

RETRACTED: Expression of Trps1 during mouse embryonic development

Melanie Kunath, Hermann-Josef Lüdecke, Andrea Vortkamp

Journal:

Gene Expression Patterns

Year:

2002

Language:

english

File:

PDF, 654 KB

english, 2002

49

Genomic Organization and Promoter Structure of the Human EXT1 Gene

Hermann-Josef Lüdecke, Jung Ahn, X. Lin, A. Hill, Michael J. Wagner, Lutz Schomburg, Bernhard Horsthemke, Dan E. Wells

Journal:

Year:

1997

Language:

english

File:

PDF, 99 KB

english, 1997

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