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Results: 1-17 |
Results: 17
Phenotypic variability of the cat eye syndrome. Case report and review of the literature
Authors: Rosias, PPR Sijstermans, JMJ Theunissen, PMVM Pulles-Heintzberger, CFM De Die-Smulders, CEM Engelen, JJM Van Der Meer, SB
Citation: Ppr. Rosias et al., Phenotypic variability of the cat eye syndrome. Case report and review of the literature, GEN COUNSEL, 12(3), 2001, pp. 273-282
Holoprosencephaly: The Maastricht experience
Authors: Moog, U De Die-Smulders, CEM Schrander-Stumpel, CTRM Engelen, JJM Hamers, AJH Frints, S Fryns, JP
Citation: U. Moog et al., Holoprosencephaly: The Maastricht experience, GEN COUNSEL, 12(3), 2001, pp. 287-298
Lateral facial clefts: A case report
Authors: de Die-Smulders, CEM Moog, U Engelen, JJM Peters, JJM Damen, A Vos, W Fryns, JP
Citation: Cem. De Die-smulders et al., Lateral facial clefts: A case report, GEN COUNSEL, 12(2), 2001, pp. 163-165
Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection
Authors: Engelen, JJM Marcelis, CLM Alofs, MGP Loneus, WH Pulles-Heintzberger, CFM Hamers, AJH
Citation: Jjm. Engelen et al., Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection, AM J MED G, 99(1), 2001, pp. 48-53
De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH
Authors: Sanchez-Gareia, JF de Die-Smulders, CEM Weber, JW Jetten, AGP Loneus, WH Hamers, AJH Engelen, JJM
Citation: Jf. Sanchez-gareia et al., De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH, AM J MED G, 100(1), 2001, pp. 56-61
An adult patient with a distal interstitial 14q deletion: Clinical report and literature review
Authors: Spruijt, L Van der Blij-Philipsen, M Engelen, JJM Schrander-Stumpel, CTRM
Citation: L. Spruijt et al., An adult patient with a distal interstitial 14q deletion: Clinical report and literature review, GEN COUNSEL, 11(4), 2000, pp. 335-340
14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies
Authors: Mertens, DJLM De Die-Smulders, CEM Kampschoer, PHNM Offermans, JPM Engelen, JJM Hamers, AJH Lammens, M Schrander-Stumpel, CTRM
Citation: Djlm. Mertens et al., 14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies, GEN COUNSEL, 11(4), 2000, pp. 341-346
Trisomy 7p: Report of 2 patients and literature review
Authors: Arens, YHJM Toutain, A Engelen, JJM Offermans, JPM Hamers, AJH Schrander, JJP Pulles-Heintzberger, CFM Schrander-Stumpel, CTRM
Citation: Yhjm. Arens et al., Trisomy 7p: Report of 2 patients and literature review, GEN COUNSEL, 11(4), 2000, pp. 347-354
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism
Authors: Bal, M Schrander-Stumpel, CTRM Meers, LEC Theunissen, PMVM Hamers, AJH Wennekes, MJ Engelen, JJM
Citation: M. Bal et al., De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism, GEN COUNSEL, 11(3), 2000, pp. 221-227
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH
Authors: Engelen, JJM Tuerlings, JHAM Albrechts, JCM Schrander-Stumpel, CTRM Hamers, AJH De Die-Smulders, CEM
Citation: Jjm. Engelen et al., Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH, GEN COUNSEL, 11(1), 2000, pp. 13-17
Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8pduplications
Authors: Moog, U Engelen, JJM Albrechts, JCM Baars, LGM de Die-Smulders, CEM
Citation: U. Moog et al., Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8pduplications, AM J MED G, 94(4), 2000, pp. 306-310
Severe phenotypes associated with inactive ring X chromosomes
Authors: Migeon, BR Ausems, M Giltay, J Hasley-Royster, C Kazi, E Lydon, TJ Engelen, JJM Raymond, GV
Citation: Br. Migeon et al., Severe phenotypes associated with inactive ring X chromosomes, AM J MED G, 93(1), 2000, pp. 52-57
Mosaic telomeric (2;14) association in a child with motor delay
Authors: Engelen, JJM Marcelis, C Herbergs, J Weber, J Alofs, M Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Mosaic telomeric (2;14) association in a child with motor delay, AM J MED G, 92(5), 2000, pp. 318-321
Duplication of chromosome region 8p23.1 -> p23.3: A benign variant?
Authors: Engelen, JJM Moog, U Evers, JLH Dassen, H Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Duplication of chromosome region 8p23.1 -> p23.3: A benign variant?, AM J MED G, 91(1), 2000, pp. 18-21
Analysis of oxidative DNA damage and HPRT mutant frequencies in cancer patients before and after radiotherapy
Authors: Zwingmann, IH Welle, IJ Engelen, JJM Schilderman, PAEL de Jong, JMA Kleinjans, JCS
Citation: Ih. Zwingmann et al., Analysis of oxidative DNA damage and HPRT mutant frequencies in cancer patients before and after radiotherapy, MUT RES-F M, 431(2), 1999, pp. 361-369
Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding
Authors: de Die-Smulders, CEM Engelen, JJM Albrechts, JCM Hamers, GJH
Citation: Cem. De Die-smulders et al., Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding, AM J MED G, 86(4), 1999, pp. 385-388
Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature
Authors: Engelen, JJM De Die-Smulders, CEM Vos, PTH Meers, LEC Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature, ANN GENET, 42(2), 1999, pp. 101-104
Risultati: 1-17 |