Volume 54; Issue 1

European Journal of Medical Genetics

Volume 54; Issue 1

1

De novo microduplication at 22q11.21 in a patient with VACTERL association

Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M. Boemers, Stefan Aretz, Felix F. Brockschmidt, Markus M. Nöthen, Michael Ludwig, Heiko Reutter

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

2

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies

Mireille M.L. van Diepen, Antoinet C.J. Gijsbers, Cathy A.J. Bosch, Anne Marie Oudesluys-Murphy, Claudia A.L. Ruivenkamp, Emilia K. Bijlsma

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

3

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation

Aravindhan Veerapandiyan, Ivan Kingyue Chinn, Kelly Schoch, Kristin A. Maloney, Vandana Shashi

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 111 KB

english, 2011

4

Parental origin and functional relevance of a de novo UBE3A variant

Bernhard Horsthemke, Michaela Wawrzik, Stephanie Groß, Christina Lich, Birgitta Sauer, Imma Rost, Ernst Krasemann, Nadezda Kosyakova, Thomas Liehr, Anja Weise, J. Nikolaj Dybowski, Daniel Hoffmann, Da

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 814 KB

english, 2011

5

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome

Swati Naik, Elliott Riordan-Eva, N. Simon Thomas, Rebecca Poole, Mark Ashton, John A. Crolla, I. Karen Temple

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 616 KB

english, 2011

6

Long-term outcomes of adults with features of VACTERL association

Manu S. Raam, Daniel E. Pineda-Alvarez, Donald W. Hadley, Benjamin D. Solomon

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 349 KB

english, 2011

7

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

S. Gimelli, P. Makrythanasis, C. Stouder, S.E. Antonarakis, A. Bottani, F. Béna

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 536 KB

english, 2011

8

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

Aurelio Hernandez-Lain, Isabelle Husson, Nicole Monnier, Caroline Farnoux, Guy Brochier, Emmanuelle Lacène, Maud Beuvin, Mait Viou, Linda Manéré, Kristl G. Claeys, Michel Fardeau, Joël Lunardi, Thomas

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 663 KB

english, 2011

9

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel-Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, Declan Kennedy, Greg Smith, Teck Yee Khong, Guilhem Solé, Elodie Guerineau, Isabelle Coupry,

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 378 KB

english, 2011

10

Neuropathy in Wolfram syndrome

Stéphane Mathis, Thierry Maisonobe, Jean-Philippe Neau

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 105 KB

english, 2011

11

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

Eva Wohlleber, Maria Kirchhoff, Alexander M. Zink, Martina Kreiß-Nachtsheim, Alma Küchler, Birgit Jepsen, Susanne Kjaergaard, Hartmut Engels

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 711 KB

english, 2011

12

New ocular findings in two sisters with Yunis–Varón syndrome and literature review

J. Román Corona-Rivera, Carmen O. Romo-Huerta, Eloy López-Marure, Feliciano J. Ramos, Sara A. Estrada-Padilla, Luz Consuelo Zepeda-Romero

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

13

Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male

Serena Nik-Zainal, Paul E. Cotter, Lionel R. Willatt, Kristin Abbott, Eoin W. O’Brien

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

14

Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome

Roja Motaghedi, Elizabeth G. Lipman, Jeannette E. Hogg, Paul J. Christos, Maria G. Vogiatzi, Moris A. Angulo

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

15

Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review

Peter Agergaard, Anders Hebert, Karina M. Sørensen, John R. Østergaard, Charlotte Olesen

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

16

When brachytherapy met genetic oncology. Can radiation oncologists improve the detection of hereditary non-polyposis colorectal cancer?

Tan Dat Nguyen, Chantal Delvincourt, Marie-Claude Gorisse, Clotilde Penet

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

17

Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Myrna Medlej-Hashim, Eliane Chouery, Nabiha Salem, Valérie Delague, Gérard Lefranc, Jacques Loiselet, André Mégarbané

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 753 KB

english, 2011

18

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Jill A. Rosenfeld, Yves Lacassie, Dima El-Khechen, Luis F. Escobar, James Reggin, Carolyn Heuer, Emily Chen, Lauren S. Jenkins, A. Thomas Collins, Samuel Zinner, Melanie Babcock, Bernice Morrow, Roger

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.13 MB

english, 2011

19

Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

Lucia Ballarati, Anna Cereda, Rossella Caselli, Angelo Selicorni, Maria P. Recalcati, Silvia Maitz, Palma Finelli, Lidia Larizza, Daniela Giardino

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 607 KB

english, 2011

20

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Alice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha S. Zaki

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 432 KB

english, 2011

21

Acknowledgement

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

22

Editorial Board

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 45 KB

english, 2011

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