Ropers, Hans Hilger: search on Z-Library

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1

Genetics of Early Onset Cognitive Impairment

Ropers, Hans Hilger

Journal:

Annual Review of Genomics and Human Genetics

Year:

2010

Language:

english

File:

PDF, 389 KB

english, 2010

2

X-linked mental retardation: many genes for a complex disorder

Hans-Hilger Ropers

Journal:

Current Opinion in Genetics & Development

Year:

2006

Language:

english

File:

PDF, 360 KB

english, 2006

3

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 899 KB

english, 2016

4

Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)

Andrea H. Németh, Dagmar Nolte, Eimear Dunne, Stephan Niemann, Markus Kostrzewa, Usha Peters, Eileen Fraser, Elena Bochukova, Robin Butler, Julie Brown, Roger D. Cox, Elaine R. Levy, Hans-Hilger Roper

Journal:

Year:

1999

Language:

english

File:

PDF, 156 KB

english, 1999

5

New Perspectives for the Elucidation of Genetic Disorders

Hans-Hilger Ropers

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 109 KB

english, 2007

6

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

Yvette J. M. de Kok, Cor W. R. J. Cremers, Hans-Hilger Ropers, Frans P. M. Cremers

Journal:

Year:

1997

Language:

english

File:

PDF, 163 KB

english, 1997

7

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

Thierry Bienvenu, Vincent des Portes, Nathalie McDonell, Alain Carrié, Ramzi Zemni, Philippe Couvert, Hilger H. Ropers, Claude Moraine, Hans van Bokhoven, Jean Pierre Fryns, Kristina Allen, Christophe

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 154 KB

english, 2000

8

A subtelomeric cryptic unbalanced translocation der (1)t(1;18)(q44;q23) in a severely retarded girl: similarities and differences to the deletion 1q42/43-ter syndrome

Matthias Drechsler, Frank Majewski, Barbara Leube, Vera M. Kalscheuer, Hans Hilger Ropers, Brigitte Royer-Pokora

Journal:

Gene Function & Disease

Year:

2001

Language:

english

File:

PDF, 616 KB

english, 2001

9

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

Eva Klopocki, Britta Fiebig, Peter Robinson, Holger Tönnies, Fikret Erdogan, Hans-Hilger Ropers, Stefan Mundlos, Reinhard Ullmann

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 156 KB

english, 2006

10

Localization of the gene for X-linked Alport's syndrome

Brunner, Han, Schröder, Cock, van Bennekom, Cor, Lambermon, Eric, Tuerlings, Joep, Menzel, Daria, Olbing, Hermann, Monnens, Leo, Wieringa, Berend, Ropers, Hans-Hilger

Journal:

Kidney International

Year:

1988

Language:

english

File:

PDF, 270 KB

english, 1988

11

Classical and Molecular Cytogenetics of the Pufferfish Tetraodon Nigroviridis

Frank Grützner, Götz Lütjens, Carlos Rovira, David W. Barnes, Hans-Hilger Ropers, Thomas Haaf

Journal:

Chromosome Research

Year:

1999

Language:

english

File:

PDF, 123 KB

english, 1999

12

Maternal-Specific Methylation of the HumanIGF2RGene Is Not Accompanied by Allele-Specific Transcription

Anne M. Riesewijk, Marga T. Schepens, Thomas R. Welch, Ella M. van den Berg-Loonen, Edwin M. Mariman, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

1996

Language:

english

File:

PDF, 190 KB

english, 1996

13

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

Mette Gilling, Jörn S. Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert, Thomas Meyer, Karen Brondum-Nielsen, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer, N. Si

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 384 KB

english, 2006

14

Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli

Hucho, Tim, Suckow, Vanessa, Joseph, Elizabeth K., Kuhn, Julia, Schmoranzer, Jan, Dina, Olayinka A., Chen, Xiaojie, Karst, Matthias, Bernateck, Michael, Levine, Jon D., Ropers, Hans-Hilger

Journal:

Journal of Neurochemistry

Year:

2012

Language:

english

File:

PDF, 820 KB

english, 2012

15

Mutations in the candidate gene for Norrie disease

Berger, Wolfgang, de Pol, Dorien van, Warburg, Mette, Gal, Andreas, Bleeker-Wagemakers, Liesbeth, de Silva, Harendra, Meindl, Alfons, Meitinger, Thomas, Cremers, Frans, Ropers, Hans-Hilger

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.28 MB

english, 1992

16

Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa.

Steijlen, Peter M., Kremer, Hannie, Vakilzadeh, Fereydoun, Happle, Rudolf, Lavrijsen, Adriana P. M., Ropers, Hans-Hilger, Mariman, Edwin C. M.

Journal:

The Journal of Investigative Dermatology

Year:

1994

Language:

english

File:

PDF, 4.17 MB

english, 1994

17

Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

Smeets, Dominique F.C.M., Hamel, Ben C.J., Nelen, Marcel R., Smeets, Hubertus J.M., Bollen, Josephus H.M., Smits, Arie P.T., Ropers, Hans-Hilger, van Oost, Bernard A.

Journal:

Boston Medical and Surgical Journal

Year:

1992

Language:

english

File:

PDF, 2.11 MB

english, 1992

18

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Hamel, Ben C.J., Smits, Arie P.T., van den Helm, Bellinda, Smeets, Dominique F.C.M., Knoers, Nine V.A.M., van Roosmalen, Tanja, Thoonen, Geert H.J., Assman-Hulsmans, Claire F.C.H., Ropers, Hans-Hilger

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 965 KB

english, 1999

19

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

Gertrud Strobl-Wildemann, Vera M. Kalscheuer, Hao Hu, Klaus Wrogemann, Hans-Hilger Ropers, Andreas Tzschach

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 951 KB

english, 2011

20

Truncation of the CNS-expressedJNK3in a patient with a severe developmental epileptic encephalopathy

Sarah A. Shoichet, Laurence Duprez, Olivier Hagens, Vicki Waetzig, Corinna Menzel, Thomas Herdegen, Susann Schweiger, Bernard Dan, Esther Vamos, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

2006

Language:

english

File:

PDF, 406 KB

english, 2006

21

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Anne M. Riesewijk, Landian Hu, Ute Schulz, Gholamali Tariverdian, Pia Höglund, Jura Kere, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

1997

Language:

english

File:

PDF, 2.58 MB

english, 1997

22

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid R. Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean-Pierre Fryns, Hans-Hilger Ropers, Jamel Chelly,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.21 MB

english, 2006

23

Conflicting Reports of Imprinting Status of Human GRB10 in Developing Brain: How Reliable Are Somatic Cell Hybrids for Predicting Allelic Origin of Expression?

Susanne Mergenthaler, Megan P. Hitchins, Nadya Blagitko-Dorfs, David Monk, Hartmut A. Wollmann, Michael B. Ranke, Hans-Hilger Ropers, Sophia Apostolidou, Philip Stanier, Michael A. Preece, Thomas Egge

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

24

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

Ben C. J. Hamel, Edwin C. M. Mariman, Sylvia E. C. van Beersum, Anneke M. J. Schoonbrood-Lenssen, Hans-Hilger Ropers

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 653 KB

english, 1994

25

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Andreas Tzschach, Steffen Lenzner, Bettina Moser, Richard Reinhardt, Jamel Chelly, Jean-Pierre Fryns, Tjitske Kleefstra, Martine Raynaud, Gillian Turner, Hans-Hilger Ropers, Andreas Kuss, Lars Riff Je

Journal:

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

26

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

Luciana Musante, Stella-Amrei Kunde, Tina O. Sulistio, Ute Fischer, Astrid Grimme, Suzanna G.M. Frints, Charles E. Schwartz, Francisco Martínez, Corrado Romano, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

2010

Language:

english

File:

PDF, 373 KB

english, 2010

27

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

Kalscheuer, Vera M., Mariman, Edwin C., Schepens, Marga T., Rehder, Helga, Ropers, Hans-Hilger

Journal:

Nature Genetics

Year:

1993

File:

PDF, 573 KB

1993

28

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, A

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

29

Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel

Traupe, Heiko, van den Ouweland, Ans M.W., van Oost, Bernard A., Vogel, Walther, Vetter, Ulrich, Warren, Stephen T., Rocchi, Mariano, Darlison, Mark G., Ropers, Hans-Hilger

Journal:

Year:

1992

Language:

english

File:

PDF, 493 KB

english, 1992

30

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Hu, Hao, Suckow, Vanessa, Musante, Luciana, Roggenkamp, Viola, Kraemer, Nadine, Ropers, Hans-Hilger, Hübner, Christoph, Wienker, Thomas F, Kaindl, Angela M

Journal:

Year:

2014

Language:

english

File:

PDF, 1008 KB

english, 2014

31

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene.

Kremer, Hannie, Zeeuwen, Patrick, McLean, W. H. Irwin, Mariman, Edwin C. M., Lane, E. Birgitte, van de Kerkhof, Peter C. M., Ropers, Hans-Hilger, Steijlen, Peter M.

Journal:

The Journal of Investigative Dermatology

Year:

1994

Language:

english

File:

PDF, 5.09 MB

english, 1994

32

Reverse Mutation in Myotonic Dystrophy

Brunner, Han G., Jansen, Gert, Nillesen, Willy, Nelen, Marcel R., de Die, Christine, Howeler, Chris J., van Oost, Bernard A., Wieringa, Be, Ropers, Hans-Hilger, Smeets, Hubert

Journal:

Boston Medical and Surgical Journal

Year:

1993

Language:

english

File:

PDF, 4.31 MB

english, 1993

33

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

Joanna Walczak-Sztulpa, Marzena Wisniewska, Anna Latos-Bielenska, Maja Linné, Christina Kelbova, Britta Belitz, Lutz Pfeiffer, Vera Kalscheuer, Fikret Erdogan, Andreas W. Kuss, Hans-Hilger Ropers, Rei

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

34

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Marei Schubert, Maria Hoeltzenbein, Gotthold Barbi, Christine Petzenhauser, Hans-Hilger Ropers, Reinhard Ullmann, Vera Kalscheuer

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 149 KB

english, 2007

35

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

Andreas Gal, Christine Stolzenberger, Thomas Wienker, Peter Wieacker, Hans-Hilger Ropers, Ursula Friedrich, Liesbeth Bleeker-Wagemakers, Peter Pearson, Mette Warburg

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 115 KB

english, 1985

36

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana Kariminejad, Farkhondeh Behjati, Andreas Tzschach, Hossein Najmabadi, Hans Hilger Ropers, Andreas Walter Kuss

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.14 MB

english, 2008

37

Cytogenetic and biochemical differences between Apodemus sylvaticus and Apodemus flavicollis, possibly responsible for the failure to interbreed

Engel, Wolfgang, Vogel, Walther, Voiculescu, Ion, Ropers, Hans-Hilger, Zenzes, Maria Teresa, Bender, Klaus

Journal:

Comparative Biochemistry and Physiology Part B: Comparative Biochemistry

Year:

1973

Language:

english

File:

PDF, 700 KB

english, 1973

38

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Erman Salih Istifli, Martin Rieger, Angela Ovens-Raeder, Alfons Macke, Hans-Hilger Ropers, Reinhard Ullmann, Vera Kalscheuer

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

39

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder

D. Daniëlle Vries, Ilse J. Wijs, Gerhard Wolff, Uwe-Peter Ketelsen, Hans-Hilger Ropers, Bernard A. Oost

Journal:

Year:

1993

Language:

english

File:

PDF, 433 KB

english, 1993

40

Haploinsufficiency of novelFOXG1Bvariants in a patient with severe mental retardation, brain malformations and microcephaly

Sarah A. Shoichet, Stella-Amrei Kunde, Petra Viertel, Can Schell-Apacik, Hubertus von Voss, Niels Tommerup, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

2005

Language:

english

File:

PDF, 358 KB

english, 2005

41

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Moheb, Lia Abbasi, Tzschach, Andreas, Garshasbi, Masoud, Kahrizi, Kimia, Darvish, Hossein, Heshmati, Yaser, Kordi, Alireza, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

42

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH

Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp, Maido Remm, Gillian Turner, Jackie Boyle, Hans van Bokhoven, Arjan de Brouwer, Hilde Van Esch, Guy Froyen, Hans-Hilger Ropers

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 379 KB

english, 2007

43

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Bitner-Glindzicz, Maria, Turnpenny, Peter, Höglund, Pia, Kääriäinen, Helena, Sankila, Eeva-Marja, van der Maarel, Sylvere M., de Kok, Yvette J.M., Ropers, Hans-Hilger, Cremers, Frans P.M., Pembrey, Ma

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.21 MB

english, 1995

44

No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues

Jansen, Gert, Bartolomel, Marisa, Kalscheuer, Vera, Merkx, Gerard, Wormskamp, Nicole, Mariman, Edwin, Smeets, Dominique, Ropers, Hans-Hilger, Wleringa, Bé

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 5.17 MB

english, 1993

45

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

Wolfgang Berger, Gerard Duijnhoven, Alfred Pinckers, Arie Smits, Hans-Hilger Ropers, Frans Cremers

Journal:

Year:

1995

Language:

english

File:

PDF, 312 KB

english, 1995

46

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

Wei Shi, José A.J.M van den Hurk, Victor Alamo-Bethencourt, Wolfgang Mayer, Huub J Winkens, Hans-Hilger Ropers, Frans P.M Cremers, Reinald Fundele

Journal:

Developmental Biology

Year:

2004

Language:

english

File:

PDF, 1.01 MB

english, 2004

47

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability

Kazeminasab, Somayeh, Taskiran, Ibrahim Ihsan, Fattahi, Zohreh, Bazazzadegan, Niloofar, Hosseini, Masoumeh, Rahimi, Maryam, Oladnabi, Morteza, Haddadi, Mohammad, Celik, Arzu, Ropers, Hans-Hilger, Najm

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

48

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features

Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Hamid Najafi, Alischo Ahmed, Reinhard Ullmann, Hans-Hilger Ropers, Mohamad Hasan Kariminejad

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 121 KB

english, 2010

49

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

Han G. Brunner, Cor A. Bennekom, Eric M. M. Lambermon, T. Lian Oei, Cor W. R. J. Cremers, Bé Wieringa, Hans-Hilger Ropers

Journal:

Year:

1988

Language:

english

File:

PDF, 346 KB

english, 1988

50

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers,

Journal:

The HUGO Journal

Year:

2009

Language:

english

File:

PDF, 349 KB

english, 2009

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