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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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