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Results: 1-25 | 26-37
Results: 1-25/37
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Authors: Bliek, J Maas, SM Ruijter, JM Hennekam, RCM Alders, M Westerveld, A Mannens, MMAM
Citation: J. Bliek et al., Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS, HUM MOL GEN, 10(5), 2001, pp. 467-476
No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis
Authors: Hennekam, RCM Waterham, HR Wanders, RJA Aronson, DC
Citation: Rcm. Hennekam et al., No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis, AM J MED G, 99(3), 2001, pp. 256-257
Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome
Authors: van Haelst, MM Hoogeboom, J Galjaard, RJH Kleijer, WJ den Hollander, NS de Krijger, RR Hennekam, RCM Niermeijer, MF
Citation: Mm. Van Haelst et al., Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome, AM J MED G, 104(1), 2001, pp. 65-68
Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome
Authors: Bellini, C Bonioli, E Josso, N Belville, C Mazzella, M Costabel, S Sementa, AR Marino, CE Toma, P Hennekam, RCM Serra, G
Citation: C. Bellini et al., Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome, AM J MED G, 104(1), 2001, pp. 69-74
Meier-Gorlin syndrome: Report of eight additional cases and review
Authors: Bongers, EMHF Opitz, JM Fryer, A Sarda, P Hennekam, RCM Hall, BD Superneau, DW Harbison, M Poss, A van Bokhoven, H Hamel, BCJ Knoers, NVAM
Citation: Emhf. Bongers et al., Meier-Gorlin syndrome: Report of eight additional cases and review, AM J MED G, 102(2), 2001, pp. 115-124
PTEN mutations and Proteus syndrome - Reply
Authors: Eng, C Thiele, H Zhou, XP Gorlin, RJ Hennekam, RCM Winter, RM
Citation: C. Eng et al., PTEN mutations and Proteus syndrome - Reply, LANCET, 358(9298), 2001, pp. 2079-2080
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
Authors: Zhou, XP Hampel, H Thiele, H Gorlin, RJ Hennekam, RCM Parisi, M Winter, RM Eng, C
Citation: Xp. Zhou et al., Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes, LANCET, 358(9277), 2001, pp. 210-211
Quantitative assessment of dural ectasia as a marker for Marfan syndrome
Authors: Oosterhof, T Groenink, M Hulsmans, FJ Mulder, BJM van der Wall, EE Smit, R Hennekam, RCM
Citation: T. Oosterhof et al., Quantitative assessment of dural ectasia as a marker for Marfan syndrome, RADIOLOGY, 220(2), 2001, pp. 514-518
Progress toward understanding vascular malformations
Authors: Breugem, CC van der Horst, CMAM Hennekam, RCM
Citation: Cc. Breugem et al., Progress toward understanding vascular malformations, PLAS R SURG, 107(6), 2001, pp. 1509-1523
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism
Authors: Bakker, B Bikker, H Hennekam, RCM Lommen, EJP Schipper, MGJ Vulsma, T de Vijlder, JJM
Citation: B. Bakker et al., Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism, J CLIN END, 86(3), 2001, pp. 1164-1168
Natural history of cardiovascular manifestations in Marfan syndrome
Authors: van Karnebeek, CDM Naeff, MSJ Mulder, BJM Hennekam, RCM Offringa, M
Citation: Cdm. Van Karnebeek et al., Natural history of cardiovascular manifestations in Marfan syndrome, ARCH DIS CH, 84(2), 2001, pp. 129-137
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome
Authors: Jira, PE Wanders, RJA Smeitink, JAM De Jong, J Wevers, RA Oostheim, W Tuerlings, JHAM Hennekam, RCM Sengers, RCA Waterham, HR
Citation: Pe. Jira et al., Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome, ANN HUM GEN, 65, 2001, pp. 229-236
Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
Authors: Waterham, HR Koster, J Romeijn, GJ Hennekam, RCM Vreken, P Andersson, HC FitzPatrick, DR Kelley, RI Wanders, RJA
Citation: Hr. Waterham et al., Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis, AM J HU GEN, 69(4), 2001, pp. 685-694
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
Authors: Ludecke, HJ Schaper, J Meinecke, P Momeni, P Gross, S von Holtum, D Hirche, H Abramowicz, MJ Albrecht, B Apacik, C Christen, HJ Claussen, U Devriendt, K Fastnacht, E Forderer, A Friedrich, U Goodship, THJ Greiwe, M Hamm, H Hennekam, RCM Hinkel, GK Hoeltzenbein, M Kayserili, H Majewski, F Mathieu, M McLeod, R Midro, AT Moog, U Nagai, T Niikawa, N Orstavik, KH Plochl, E Seitz, C Schmidtke, J Tranebjaerg, L Tsukahara, M Wittwer, B Zabel, B Gillessen-Kaesbach, G Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
From developmental biology to dysmorphology
Authors: Ravazzolo, R Cossu, G Hennekam, RCM
Citation: R. Ravazzolo et al., From developmental biology to dysmorphology, EUR J HUM G, 8(10), 2000, pp. 813-813
Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum
Authors: van den Berg, JSP Hennekam, RCM Cruysberg, JRM Steijlen, PM Swart, J Tijmes, N Limburg, M
Citation: Jsp. Van Den Berg et al., Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum, CEREB DIS, 10(4), 2000, pp. 315-319
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
Authors: Maas, SM Hoovers, JMN van Seggelen, ME Menzel, DM Hennekam, RCM
Citation: Sm. Maas et al., Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?, CLIN DYSMOR, 9(1), 2000, pp. 47-53
Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3)
Authors: Petrij, F Dorsman, JC Dauwerse, HG Giles, RH Peeters, T Hennekam, RCM Breuning, MH Peters, DJM
Citation: F. Petrij et al., Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3), AM J MED G, 92(1), 2000, pp. 47-52
The Smith-Lemli-Opitz syndrome
Authors: Kelley, RI Hennekam, RCM
Citation: Ri. Kelley et Rcm. Hennekam, The Smith-Lemli-Opitz syndrome, J MED GENET, 37(5), 2000, pp. 321-335
Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome
Authors: Waterham, HR Oostheim, W Romeijn, GJ Wanders, RJA Hennekam, RCM
Citation: Hr. Waterham et al., Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome, J MED GENET, 37(5), 2000, pp. 387-389
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Authors: Petrij, F Dauwerse, HG Blough, RI Giles, RH van der Smagt, JJ Wallerstein, R Maaswinkel-Mooy, PD van Karnebeek, CD van Ommen, GJB van Haeringen, A Rubinstein, JH Saal, HM Hennekam, RCM Peters, DJM Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patientsand review of the literature
Authors: van Genderen, MM Kinds, GF Riemslag, FCC Hennekam, RCM
Citation: Mm. Van Genderen et al., Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patientsand review of the literature, BR J OPHTH, 84(10), 2000, pp. 1177-1184
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
Authors: Goodman, FR Bacchelli, C Brady, AF Brueton, LA Fryns, JP Mortlock, DP Innis, JW Holmes, LB Donnenfeld, AE Feingold, M Beemer, FA Hennekam, RCM Scambler, PJ
Citation: Fr. Goodman et al., Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome, AM J HU GEN, 67(1), 2000, pp. 197-202
Familial syndromic esophageal atresia maps to 2p23-p24
Authors: Celli, J van Beusekom, E Hennekam, RCM Gallardo, ME Smeets, DFCM de Cordoba, SR Innis, JW Frydman, M Konig, R Kingston, H Tolmie, J Govaerts, LCP van Bokhoven, H Brunner, HG
Citation: J. Celli et al., Familial syndromic esophageal atresia maps to 2p23-p24, AM J HU GEN, 66(2), 2000, pp. 436-444
Survival and complication free survival in Marfan's syndrome: implicationsof current guidelines
Authors: Groenink, M Lohuis, TAJ Tijssen, JGP Naeff, MSJ Hennekam, RCM van der Wall, EE Mulder, BJM
Citation: M. Groenink et al., Survival and complication free survival in Marfan's syndrome: implicationsof current guidelines, HEART, 82(4), 1999, pp. 499-504
Risultati: 1-25 | 26-37