Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB (English)
- New search for: Liu, J.
- New search for: Nealon, J. G.
- New search for: Weinstein, L. S.
- New search for: Liu, J.
- New search for: Nealon, J. G.
- New search for: Weinstein, L. S.
In:
HUMAN MOLECULAR GENETICS
;
14
, 1
;
95-102
;
2005
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ISSN:
- Article (Journal) / Print
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Title:Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
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Contributors:
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Published in:HUMAN MOLECULAR GENETICS ; 14, 1 ; 95-102
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Publisher:
- New search for: Oxford University Press
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Publication date:2005-01-01
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Size:8 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 14, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromesDuchatelet, S. / Ostergaard, E. / Cortes, D. / Lemainque, A. / Julier, C. et al. | 2005
- 7
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Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathiesManh, T. P. / Mokrane, M. / Georgenthum, E. / Flavigny, J. / Carrier, L. / Semeriva, M. / Piovant, M. / Roder, L. et al. | 2005
- 19
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The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1BReid, E. / Connell, J. / Edwards, T. L. / Duley, S. / Brown, S. E. / Sanderson, C. M. et al. | 2005
- 39
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Orexin loss in Huntingtons diseasePetersen, A. / Gil, J. / Maat-Schieman, M. L. / Bjorkqvist, M. / Tanila, H. / Araujo, I. M. / Smith, R. / Popovic, N. / Wierup, N. / Norlen, P. et al. | 2005
- 49
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Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermiaKuo, Y. M. / Duncan, J. L. / Westaway, S. K. / Yang, H. / Nune, G. / Xu, E. Y. / Hayflick, S. J. / Gitschier, J. et al. | 2005
- 59
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Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genesBhangale, T. R. / Rieder, M. J. / Livingston, R. J. / Nickerson, D. A. et al. | 2005
- 71
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Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stressMoore, D. J. / Zhang, L. / Troncoso, J. / Lee, M. K. / Hattori, N. / Mizuno, Y. / Dawson, T. M. / Dawson, V. L. et al. | 2005
- 85
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Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromereChueh, A. C. / Wong, L. H. / Wong, N. / Choo, K. H. et al. | 2005
- 95
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Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IBLiu, J. / Nealon, J. G. / Weinstein, L. S. et al. | 2005
- 103
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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansZheng, Q. Y. / Yan, D. / Ouyang, X. M. / Du, L. L. / Yu, H. / Chang, B. / Johnson, K. R. / Liu, X. Z. et al. | 2005
- 113
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Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulatorKeegan, C. E. / Hutz, J. E. / Else, T. / Adamska, M. / Shah, S. P. / Kent, A. E. / Howes, J. M. / Beamer, W. G. / Hammer, G. D. et al. | 2005
- 125
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Transgenic mouse model of early-onset DYT1 dystoniaShashidharan, P. / Sandu, D. / Potla, U. / Armata, I. A. / Walker, R. H. / McNaught, K. S. / Weisz, D. / Sreenath, T. / Brin, M. F. / Olanow, C. W. et al. | 2005
- 135
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Genetic basis for individual variations in pain perception and the development of a chronic pain conditionDiatchenko, L. / Slade, G. D. / Nackley, A. G. / Bhalang, K. / Sigurdsson, A. / Belfer, I. / Goldman, D. / Xu, K. / Shabalina, S. A. / Shagin, D. et al. | 2005
- 145
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The optimal measure of linkage disequilibrium reduces error in association mapping of affection statusManiatis, N. / Morton, N. E. / Gibson, J. / Xu, C. F. / Hosking, L. K. / Collins, A. et al. | 2005
- 155
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Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathiesArimura, T. / Helbling-Leclerc, A. / Massart, C. / Varnous, S. / Niel, F. / Lacene, E. / Fromes, Y. / Toussaint, M. / Mura, A. M. / Keller, D. I. et al. | 2005
- 171
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Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13Pinto, D. / Westland, B. / de Haan, G. J. / Rudolf, G. / da Silva, B. M. / Hirsch, E. / Lindhout, D. / Trenite, D. G. / Koeleman, B. P. et al. | 2005