Volume 52; Issue 2-3

European Journal of Medical Genetics

Volume 52; Issue 2-3

1

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Thomy J. de Ravel, Irina Balikova, Paul Thiry, Joris R. Vermeesch, Jean-Pierre Frijns

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

2

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

Nicolien Hanemaaijer, Trijnie Dijkhuizen, Maaike Haadsma, Margot Boeve, Maartje Boon, Roel Hordijk, Klaas Kok, Birgit Sikkema-Raddatz, Conny M.A. van Ravenswaaij-Arts

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 259 KB

english, 2009

3

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

Thomy J.L. de Ravel, Liliane Ameye, Katleen Ballon, Martine Borghgraef, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

4

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

Hilde Van Esch, Liesbeth Backx, Elly Pijkels, Jean-Pierre Fryns

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

5

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, Barbara Delle Chiaie, Geert Mortier, Björn Menten, Anne Destrée, Isabelle Ma

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

6

Microduplication 22q11.2: A new chromosomal syndrome

Marie-France Portnoï

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 310 KB

english, 2009

7

A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

Anneke van Silfhout, Annemieke M. Boot, Trijnie Dijkhuizen, Annemieke Hoek, Rien Nijman, Birgit Sikkema-Raddatz, Conny M.A. van Ravenswaaij-Arts

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 208 KB

english, 2009

8

The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Karen Buysse, William Reardon, Lakshmi Mehta, Teresa Costa, Carrie Fagerstrom, Daniel J. Kingsbury, George Anadiotis, Barbara C. McGillivray, Jan Hellemans, Nicole de Leeuw, Bert B.A. de Vries, Frank

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 384 KB

english, 2009

9

1.6 Mb deletion in chromosome band 3q29 associated with eye abnormalities

Nataliya Tyshchenko, Karl Hackmann, Eva-Maria Gerlach, Teresa Neuhann, Evelin Schrock, Sigrid Tinschert

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

10

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

Marjolein H. Willemsen, Nicole de Leeuw, Rolph Pfundt, Bert B.A. de Vries, Tjitske Kleefstra

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

11

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, Filomena Tiziana Papa, Monika Cohen, Rolph Pfundt, Francesca Ariani, Ilaria Meloni, Francesca Mari, Alessandra Renieri

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

12

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

E.K. Bijlsma, A.C.J. Gijsbers, J.H.M. Schuurs-Hoeijmakers, A. van Haeringen, D.E. Fransen van de Putte, B.-M. Anderlid, J. Lundin, P. Lapunzina, L.A. Pérez Jurado, B. Delle Chiaie, B. Loeys, B. Menten

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 655 KB

english, 2009

13

Emerging microdeletion and microduplication syndromes; the counseling paradigm

Conny M.A. van Ravenswaaij-Arts, Tjitske Kleefstra

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

14

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

M. Pollazzon, S. Grosso, F.T. Papa, E. Katzaki, A. Marozza, M.A. Mencarelli, V. Uliana, P. Balestri, F. Mari, A. Renieri

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 225 KB

english, 2009

15

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

Marianne Doornbos, Birgit Sikkema-Raddatz, Claudia A.L. Ruijvenkamp, Trijnie Dijkhuizen, Emilia K. Bijlsma, Antoinet C.J. Gijsbers, Yvonne Hilhorst-Hofstee, Roel Hordijk, Krijn T. Verbruggen, W.S. (Mi

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 413 KB

english, 2009

16

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

Annick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, Marion Werner, Judith Dagan, Devorah Abeliovich, Israela Lerer

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 325 KB

english, 2009

17

A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

Mitchel J. Pariani, Andrew Spencer, John M. Graham Jr., David L. Rimoin

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 429 KB

english, 2009

18

CV2 Editorial Board redaction

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009