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Results: 1-25 | 26-27
Results: 1-25/27
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
Authors: von Gontard, A Laufersweiler-Plass, C Backes, M Zerres, K Rudnik-Schoneborn, S
Citation: A. Von Gontard et al., Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy, BJU INT, 88(4), 2001, pp. 409-413
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa
Authors: Ramaekers, VT Senderek, J Hausler, M Haring, M Abeling, N Zerres, K Bergmann, C Heimann, G Blau, N
Citation: Vt. Ramaekers et al., A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa, MOL GEN MET, 73(2), 2001, pp. 179-187
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Authors: Grohmann, K Schuelke, M Diers, A Hoffmann, K Lucke, B Adams, C Bertini, E Leonhardt-Horti, H Muntoni, F Ouvrier, R Pfeufer, A Rossi, R Van Maldergem, L Wilmshurst, JM Wienker, TR Sendtner, M Rudnik-Schoneborn, S Zerres, K Hubner, C
Citation: K. Grohmann et al., Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1, NAT GENET, 29(1), 2001, pp. 75-77
Phaeochromocytoma associated with a de novo VHL mutation as form fruste ofvon Hippel-Lindau disease
Authors: Frenzel, S Apel, TW Heidemann, PH Zerres, K Neumann, HPH Dorr, HG
Citation: S. Frenzel et al., Phaeochromocytoma associated with a de novo VHL mutation as form fruste ofvon Hippel-Lindau disease, EUR J PED, 160(7), 2001, pp. 421-424
DNA diagnosis in hereditary nephropathies
Authors: Zerres, K Eggermann, T Rudnik-Schoneborn, S
Citation: K. Zerres et al., DNA diagnosis in hereditary nephropathies, CLIN NEPHR, 56(3), 2001, pp. 181-192
Familial kidney disease
Authors: Neumann, HPH Hildebrandt, F Weber, M Zerres, K
Citation: Hph. Neumann et al., Familial kidney disease, NIEREN HOCH, 30(6), 2001, pp. 241-241
Cystic kidney disease
Authors: Zerres, K Eggermann, T Rudnik-Schoneborn, S
Citation: K. Zerres et al., Cystic kidney disease, NIEREN HOCH, 30(6), 2001, pp. 278-288
A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany
Authors: Bergmann, C Schroder, JM Rudnik-Schneborn, S Zerres, K Senderek, J
Citation: C. Bergmann et al., A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany, MOL BRAIN R, 88(1-2), 2001, pp. 183-185
Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
Authors: Senderek, J Ramaekers, VT Zerres, K Rudnik-Schoneborn, S Schroder, JM Bergmann, C
Citation: J. Senderek et al., Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain, J NEUR SCI, 192(1-2), 2001, pp. 49-51
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
Authors: Albrecht, B Mergenthaler, S Eggermann, K Zerres, K Passarge, E Eggermann, T
Citation: B. Albrecht et al., Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q), J MED GENET, 38(3), 2001, pp. 214-215
The predictive value of achieved motor milestones assessed in 441 patientswith infantile spinal muscular atrophy types II and III
Authors: Rudnik-Schoneborn, S Hausmanowa-Petrusewicz, I Borkowska, J Zerres, K
Citation: S. Rudnik-schoneborn et al., The predictive value of achieved motor milestones assessed in 441 patientswith infantile spinal muscular atrophy types II and III, EUR NEUROL, 45(3), 2001, pp. 174-181
Origin of uniparental disomy 6: presentation of a new case and review on the literature
Authors: Eggermann, T Marg, W Mergenthaler, S Eggermann, K Schemmel, V Stoffers, U Zerres, K Spranger, S
Citation: T. Eggermann et al., Origin of uniparental disomy 6: presentation of a new case and review on the literature, ANN GENET, 44(1), 2001, pp. 41-45
Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease
Authors: Nakanishi, K Sweeney, WE Zerres, K Guay-Woodford, LM Avner, ED
Citation: K. Nakanishi et al., Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease, J AM S NEPH, 11(4), 2000, pp. 760-763
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
Authors: Helmken, C Wetter, A Rudnik-Schoneborn, S Liehr, T Zerres, K Wirth, B
Citation: C. Helmken et al., An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA), EUR J HUM G, 8(7), 2000, pp. 493-499
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
Authors: Hofmann, Y Becker, J Wright, F Avner, ED Mrug, M Guay-Woodford, LM Somlo, S Zerres, K Germino, GG Onuchic, LF
Citation: Y. Hofmann et al., Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease, EUR J HUM G, 8(3), 2000, pp. 163-166
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p
Authors: Hallermann, C Mucher, G Kohlschmidt, N Wellek, B Schumacher, R Bahlmann, F Shahidi-Asl, P Theile, U Rudnik-Schoneborn, SR Munterfering, H Zerres, K
Citation: C. Hallermann et al., Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p, AM J MED G, 90(2), 2000, pp. 115-119
ADULT syndrome allelic to limb mammary syndrome (LMS)?
Authors: Propping, P Friedl, W Wienker, TF Uhlhaas, S Zerres, K
Citation: P. Propping et al., ADULT syndrome allelic to limb mammary syndrome (LMS)?, AM J MED G, 90(2), 2000, pp. 179-182
Genomic organization of the KIAA0057 gene that encodes a TRAM-like proteinand its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene
Authors: Onuchic, LF Mrug, M Lakings, AL Muecher, G Becker, J Zerres, K Avner, ED Dixit, M Somlo, S Germino, GG Guay-Woodford, LM
Citation: Lf. Onuchic et al., Genomic organization of the KIAA0057 gene that encodes a TRAM-like proteinand its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene, MAMM GENOME, 10(12), 1999, pp. 1175-1178
Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease
Authors: Neumann, HPH Krumme, B van Velthoven, V Orszagh, M Zerres, K
Citation: Hph. Neumann et al., Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease, NEPH DIAL T, 14(4), 1999, pp. 936-939
A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
Authors: Park, JH Dixit, MP Onuchic, LF Wu, GQ Goncharuk, AN Kneitz, S Santarina, LB Hayashi, T Avner, ED Guay-Woodford, L Zerres, K Germino, GG Somlo, S
Citation: Jh. Park et al., A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6, GENOMICS, 57(2), 1999, pp. 249-255
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling
Authors: Haverkamp, F Wolfle, J Aretz, M Kramer, A Hohmann, B Fahnenstich, H Zerres, K
Citation: F. Haverkamp et al., Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling, EUR J PED, 158(6), 1999, pp. 474-478
Molecular genetics testing in children at risk for hemochromatosis
Authors: Zerres, K
Citation: K. Zerres, Molecular genetics testing in children at risk for hemochromatosis, MONATS KIND, 147(10), 1999, pp. 944-945
Growth retardation in turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure
Authors: Haverkamp, F Wolfle, J Zerres, K Butenandt, O Amendt, P Hauffa, BP Weimann, E Bettendorf, M Keller, E Muhlenberg, R Partsch, CJ Sippell, WG Hoppe, C
Citation: F. Haverkamp et al., Growth retardation in turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure, J CLIN END, 84(12), 1999, pp. 4578-4582
Hereditary kidney diseases
Authors: Zerres, K Rudnik-Schoneborn, S
Citation: K. Zerres et S. Rudnik-schoneborn, Hereditary kidney diseases, INTERNIST, 40(5), 1999, pp. 534-542
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
Authors: Grohmann, K Wienker, TF Saar, K Rudnik-Schoneborn, S Stoltenburg-Didinger, G Rossi, R Novelli, G Nurnberg, G Pfeufer, A Wirth, B Reis, A Zerres, K Hubner, C
Citation: K. Grohmann et al., Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21, AM J HU GEN, 65(5), 1999, pp. 1459-1462
Risultati: 1-25 | 26-27