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Gudrun Rappold
Gudrun Rappold
Professor für Genetik
Verified email at med.uni-heidelberg.de
Title
Cited by
Cited by
Year
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ...
The Lancet 380 (9854), 1674-1682, 2012
12152012
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
E Rao, B Weiss, M Fukami, A Rump, B Niesler, A Mertz, K Muroya, ...
Nature genetics 16 (1), 54-63, 1997
11711997
Clinical practice guidelines for the care of girls and women with Turner Syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
BPF Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO ...
Eur J Endocrinol. 177(3): 1-70, 2017 177, 1-70, 2017
1036*2017
Clinical practice guidelines for the care of girls and women with Turner Syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
BPF Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO ...
Eur J Endocrinol. 177, 1-70, 2017
10362017
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
S Berkel, CR Marshall, B Weiss, J Howe, R Roeth, U Moog, V Endris, ...
Nature genetics 42 (6), 489-491, 2010
6482010
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS genetics 10 (9), e1004580, 2014
6162014
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
S Endele, G Rosenberger, K Geider, B Popp, C Tamer, I Stefanova, ...
Nature genetics 42 (11), 1021-1026, 2010
5562010
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
M Clement-Jones, S Schiller, E Rao, RJ Blaschke, A Zuniga, R Zeller, ...
Human molecular genetics 9 (5), 695-702, 2000
5492000
Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter
D Gründemann, B Schechinger, G Rappold, E Schömig
Nature neuroscience 1 (5), 349-351, 1998
4831998
Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal
HJ Cooke, WRA Brown, GA Rappold
Nature 317 (6039), 687-692, 1985
3911985
SHANK1 deletions in males with autism spectrum disorder
D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ...
The American Journal of Human Genetics 90 (5), 879-887, 2012
3892012
Somatic ATM Mutations Indicate a Pathogenic Role of ATM in B-Cell Chronic Lymphocytic Leukemia
C Schaffner, S Stilgenbauer, GA Rappold, H Döhner, P Lichter
Blood, The Journal of the American Society of Hematology 94 (2), 748-753, 1999
3811999
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
G Rappold, WF Blum, EP Shavrikova, BJ Crowe, R Roeth, CA Quigley, ...
Journal of medical genetics 44 (5), 306-313, 2007
3442007
A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ...
Cell 81 (1), 15-25, 1995
3341995
Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature
GA Rappold, M Fukami, B Niesler, S Schiller, W Zumkeller, M Bettendorf, ...
The Journal of Clinical Endocrinology & Metabolism 87 (3), 1402-1406, 2002
2972002
Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E
B Niesler, B Frank, J Kapeller, GA Rappold
Gene 310, 101-111, 2003
2942003
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ...
The American Journal of Human Genetics 90 (3), 565-572, 2012
2852012
The pseudoautosomal regions of the human sex chromosomes
GA Rappold
Human genetics 92, 315-324, 1993
2851993
Targeted Mutation Reveals Essential Functions of the Homeodomain Transcription Factor Shox2 in Sinoatrial and Pacemaking Development
RJ Blaschke, ND Hahurij, S Kuijper, S Just, LJ Wisse, K Deissler, ...
Circulation 115 (14), 1830-1838, 2007
2772007
5-HT3 receptors: role in disease and target of drugs
J Walstab, G Rappold, B Niesler
Pharmacology & therapeutics 128 (1), 146-169, 2010
2482010
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