Volume 49; Issue 5

European Journal of Medical Genetics

Volume 49; Issue 5

1

Human laterality disorders

Hilde Peeters, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 426 KB

english, 2006

2

The natural history of Cri du Chat Syndrome. A report from the Italian Register

Paola Cerruti Mainardi, Guido Pastore, Chiara Castronovo, Michela Godi, Andrea Guala, Stefania Tamiazzo, Sandro Provera, Mauro Pierluigi, Franca Dagna Bricarelli

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 661 KB

english, 2006

3

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review

Winnie Courtens, Wim Wuyts, Stefaan Scheers, Rob Van Luijk, Edwin Reyniers, Liesbeth Rooms, Berten Ceulemans, Frank Kooy, Jan Wauters

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 424 KB

english, 2006

4

Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood

J. Vogt, S. Hill, L. Brueton

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

5

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy

Giuseppe Limongelli, Lorraine Hawkes, Raffaele Calabro, William J. McKenna, Petros Syrris

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

6

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion

Katherine Horsnell, Manir Ali, Saghira Malik, Louise Wilson, Christine Hall, Philippe Debeer, Yanick Crow

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 227 KB

english, 2006

7

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

I. Feenstra, D.A. Koolen, J. Van der Pas, B.C.J. Hamel, H. Mieloo, D.F.C.M. Smeets, C.M.A Van Ravenswaaij

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

8

Chiari type I malformation in four unrelated patients affected with Fabry disease

Dominique P. Germain, Karelle Benistan, Philippe Halimi

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

9

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development

Houda Karmous-Benailly, Fabienne Giuliano, Christophe Massol, Catherine Bloch, Dominique De Ricaud, Jean-Claude Lambert, Serge Perelman

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 849 KB

english, 2006

10

(Epi)mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they generally involved in growth retardation?

N. Schönherr, E. Meyer, K. Eggermann, M.B. Ranke, H.A. Wollmann, T. Eggermann

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

11

Erratum to “Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance” [Ann. Genet. 47 (2004) 225–234]

D. Bader, M. Grun, S. Riskin-Mashiah, A. Grunfeld, A. Kugelman, I. Chistyakov, P. Merlob

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 68 KB

english, 2006

12

CV2 Editorial Board redaction

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 38 KB

english, 2006

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