Autor Huppke, Peter
-
2000 | Zeitschriftenartikel
Two brothers with Hennekam syndrome and cerebral abnormalities
Huppke, P.; Christen, H.-J.; Sattler, B. & Hanefeld, F. (2000)
Clinical Dysmorphology, 9(1) pp. 21-24. DOI: https://doi.org/10.1097/00019605-200009010-00004
Details DOI PMID PMC WoS
-
2000 | Zeitschriftenartikel
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Huppke, P.; Laccone, F. A.; Kramer, N.; Engel, W. & Hanefeld, F. (2000)
Human Molecular Genetics, 9(9) pp. 1369-1375. DOI: https://doi.org/10.1093/hmg/9.9.1369
Details DOI PMID PMC WoS
-
2000 | Zeitschriftenartikel
UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation
Shin, Y. S.; Korenke, C.; Huppke, P.; Knerr, I. & Podskarbi, T. (2000)
Journal of Inherited Metabolic Disease, 23(4) pp. 383-386. DOI: https://doi.org/10.1023/A:1005699719068
Details DOI PMID PMC WoS
-
2001 | Zeitschriftenartikel
Endocrinological study on growth retardation in Rett syndrome
Huppke, P.; Roth, C.; Christen, H.-J.; Brockmann, K. & Hanefeld, F. (2001)
Acta Paediatrica, 90(11) pp. 1257-1261.
Details PMID PMC WoS
-
2001 | Zeitschriftenartikel
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
Trappe, R.; Laccone, F. A.; Cobilanschi, J.; Meins, M.; Huppke, P.; Hanefeld, F. & Engel, W. (2001)
The American Journal of Human Genetics, 68(5) pp. 1093-1101. DOI: https://doi.org/10.1086/320109
Details DOI PMID PMC WoS
-
2001 | Zeitschriftenartikel
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
Laccone, F. A.; Huppke, P.; Hanefeld, F. & Meins, M. (2001)
Human Mutation, 17(3) pp. 183-190. DOI: https://doi.org/10.1002/humu.3
Details DOI PMID PMC WoS
-
2002 | Zeitschriftenartikel
Eosinophilic fasciitis leading to painless contractures
Huppke, P.; Wilken, B.; Brockmann, K.; Sattler, B. & Hanefeld, F. (2002)
European Journal of Pediatrics, 161(10) pp. 528-530. DOI: https://doi.org/10.1007/s00431-002-1038-1
Details DOI PMID PMC WoS
-
2002 | Zeitschriftenartikel
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
Huppke, P.; Held, M.; Hanefeld, F.; Engel, W. & Laccone, F. A. (2002)
Neuropediatrics, 33(2) pp. 63-68. DOI: https://doi.org/10.1055/s-2002-32365
Details DOI PMID PMC WoS
-
2002 | Zeitschriftenartikel
Altered methylation pattern of the G6 PD promoter in Rett syndrome
Huppke, P.; Bohlander, S. K.; Kramer, N.; Laccone, F. A. & Hanefeld, F. (2002)
Neuropediatrics, 33(2) pp. 105-108. DOI: https://doi.org/10.1055/s-2002-32373
Details DOI PMID PMC WoS
-
2002 | Zeitschriftenartikel
EEG features of Glut-1 deficiency syndrome
von Moers, A.; Brockmann, K.; Wang, D.; Korenke, C. G.; Huppke, P.; De Vivo, D. C. & Hanefeld, F. (2002)
Epilepsia, 43(8) pp. 941-945. DOI: https://doi.org/10.1046/j.1528-1157.2002.50401.x
Details DOI PMID PMC WoS
-
2003 | Zeitschriftenartikel
The spectrum of phenotypes in females with Rett Syndrome
Huppke, P.; Held, M.; Hanefeld, F. & Laccone, F. A. (2003)
Brain and Development, 25(5) pp. 346-351. DOI: https://doi.org/10.1016/S0387-7604(03)00018-4
Details DOI PMID PMC WoS
-
2003 | Zeitschriftenartikel
Indication for genetic testing: A checklist for Rett syndrome
Huppke, P.; Kohler, K.; Laccone, F. A. & Hanefeld, F. (2003)
The Journal of Pediatrics, 142(3) pp. 332-335. DOI: https://doi.org/10.1067/mpd.2003.96
Details DOI PMID PMC WoS
-
2004 | Zeitschriftenartikel
Fetal alcohol syndrome in association with Rett syndrome
Zoll, B.; Huppke, P.; Wessel, A. D.; Bartels, I. & Laccone, F. A. (2004)
GENETIC COUNSELING, 15(2) pp. 207-212.
Details PMID PMC WoS
-
2004 | Zeitschriftenartikel
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (vol 23, pg 234, 2003)
Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D. (2004)
Human Mutation, 23(4). DOI: https://doi.org/10.1002/humu.20042
Details DOI WoS
-
2004 | Zeitschriftenartikel
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D. (2004)
Human Mutation, 23(3) pp. 234-244. DOI: https://doi.org/10.1002/humu.20004
Details DOI PMID PMC WoS
-
2006 | Konferenzbeitrag (Abstract)
The C57BL/6J mouse strain: An animal model to study spontaneous obstructive apnoea?
Stettner, G. M.; Huppke, P. & Dutschmann, M. (2006)
The FASEB Journal, 20(4) Experimental Biology 2006 Meeting, San Francisco, CA.
Bethesda: Federation Amer Soc Exp Biol.
Details WoS
-
2006 | Zeitschriftenartikel
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
Archer, H. L.; Whatley, S. D.; Evans, J. C.; Ravine, D.; Huppke, P.; Kerr, A. & Bunyan, D. u.a. (2006)
Journal of Medical Genetics, 43(5) pp. 451-456. DOI: https://doi.org/10.1136/jmg.2005.033464
Details DOI PMID PMC WoS
-
2008 | Zeitschriftenartikel
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
Zim, B.; Grundmann, K.; Huppke, P.; Puthenparampil, J.; Wolburg, H.; Riess, O. & Mueller, U. (2008)
Journal of Neurology Neurosurgery & Psychiatry, 79(12) pp. 1327-1330. DOI: https://doi.org/10.1136/jnnp.2008.148270
Details DOI WoS
-
2009 | Zeitschriftenartikel
Therapy with Interferon beta-1b of a Patient with Childhood Multiple Sclerosis
Huppke, P. & Gaertner, J. (2009)
Aktuelle Neurologie, 36 pp. S271-S273. DOI: https://doi.org/10.1055/s-0029-1220418
Details DOI WoS
-
2010 | Zeitschriftenartikel
Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
Neul, J. L.; Kaufmann, W. E.; Glaze, D. G.; Christodoulou, J.; Clarke, A. J.; Bahi-Buisson, N. & Leonard, H. u.a. (2010)
Annals of Neurology, 68(6) pp. 944-950. DOI: https://doi.org/10.1002/ana.22124
Details DOI PMID PMC WoS