Volume 54; Issue 3

European Journal of Medical Genetics

Volume 54; Issue 3

1

Severe lysosomal storage disease of liver in del(1)(p36): A new presentation

Motti Haimi, Theodore C. Iancu, Lisa G. Shaffer, Aaron Lerner

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.16 MB

english, 2011

2

Novel mutations of the MLC1 gene in Turkish patients

Ayşe Yüzbaşioğlu, Meral Topçu, Y. Çetin Kocaefe, Meral Özgüç

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 99 KB

english, 2011

3

Care for patients with ultra-rare disorders

Raoul CM. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 249 KB

english, 2011

4

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

F.S. Van Dijk, H.F. van Thuijl, A. Wermeskerken, R.R. van Rijn, J.M. Cobben

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 524 KB

english, 2011

5

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

Lea Papić, Dirk Fischer, Slave Trajanoski, Romana Höftberger, Carina Fischer, Thomas Ströbel, Wolfgang M. Schmidt, Reginald E. Bittner, Maria Schabhüttl, Karin Gruber, Thomas R. Pieber, Andreas R. Jan

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.14 MB

english, 2011

6

5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects

Eiki Nakamura, Yoshio Makita, Toshio Okamoto, Ken Nagaya, Tokitsugi Hayashi, Masaya Sugimoto, Hiromi Manabe, Genya Taketazu, Hiroki Kajino, Kenji Fujieda

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 378 KB

english, 2011

7

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

Jérôme Toutain, Laurence Taine, Fanny Morice-Picard, Houria Hallal, Zong-Qi Dai, Benoît Arveiler, Didier Lacombe, Jacques Horovitz, Robert Saura

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

8

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Capucine Hyon, Sandrine Marlin, Sandra Chantot-Bastaraud, Philippe Mabboux, Marie-Paule Beaujard, Essam Al Ageeli, Marie-Paule Vazquez, Arnaud Picard, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 933 KB

english, 2011

9

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour

R.A. Beddow, M. Smith, A. Kidd, R. Corbett, A.G. Hunter

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 567 KB

english, 2011

10

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

C. von der Lippe, C. Rustad, K. Heimdal, O.K. Rødningen

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 482 KB

english, 2011

11

Lung disease in FLNA mutation: Confirmatory report

M.C.Y. de Wit, H.A.W.M. Tiddens, I.F.M. de Coo, G.M.S. Mancini

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 204 KB

english, 2011

12

The face of Ulnar Mammary syndrome?

Shelagh Joss, Usha Kini, Richard Fisher, Stefan Mundlos, Katrina Prescott, Ruth Newbury-Ecob, John Tolmie

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

13

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

Chiara Magri, Giovanna Piovani, Alba Pilotta, Traversa Michele, Fabio Buzi, Sergio Barlati

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 998 KB

english, 2011

14

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

Konrad Oexle, Maja Hempel, Anna Jauch, Thomas Meitinger, Núria Rivera-Brugués, Sabine Stengel-Rutkowski, Tim Strom

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 501 KB

english, 2011

15

Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?

Elga F. Belligni, Inderjeet Dokal, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 393 KB

english, 2011

16

Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome?

Susanne E. Boonen, Anne Lisbeth Hoffmann, Dian Donnai, Zeynep Tümer, Kirstine Ravn

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 197 KB

english, 2011

17

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type”

Leen Wouters, Celia Maria Rodriguez Rodriguez, Elena Porta Dapena, Vincent Vander Poorten, Koen Devriendt, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 615 KB

english, 2011

18

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

Marleny Salazar, Federica Consoli, Victoria Villegas, Victor Caicedo, Valeria Maddaloni, Paola Daniele, Giuseppe Caianiello, Sonia Pachón, Federico Nuñez, Giuseppe Limongelli, Giuseppe Pacileo, Bruno

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 130 KB

english, 2011

19

A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

Stanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoît Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Cal

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 528 KB

english, 2011

20

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association

Nneamaka B. Agochukwu, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Nicole Warren-Mora, Manu S. Raam, Aparna Kamat, Settara C. Chandrasekharappa, Benjamin D. Solomon

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

21

Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

M. Balasubramanian, K. Smith, S.R. Mordekar, M.J. Parker

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 930 KB

english, 2011

22

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf

Julie Salomon, Yolanda Espinosa-Parrilla, Olivier Goulet, Wafa’a Al-Qabandi, Philippe Guigue, Danielle Canioni, Julie Bruneau, Fatema Alzahrani, Saleh Almuhsen, Nadine Cerf-Bensussan, Marc Jeanpierre,

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 997 KB

english, 2011

23

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Imen Rejeb, Lamia Ben Jemaa, Leila Abaied, Lilia Kraoua, Yoann Saillour, Faouzi Maazoul, Jamel Chelly, Habiba Chaabouni

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 588 KB

english, 2011

24

Characterization of sSMC by FISH and molecular techniques

Frenny Sheth, Joris Andrieux, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Harsh Sheth, Serge-Pierrick Romana, Marc LeLorc’h, Bruno Delobel, Olivier Theisen, Thomas Liehr, Sheela Nampoothiri, Jayes

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.47 MB

english, 2011

25

A familial syndromal form of omphalocele

Marylin Port-Lis, Camille Leroy, Sylvie Manouvrier, Fabienne Escande, Sandrine Passemard, Laurence Perrin, Yline Capri, Bénédicte Gérard, Alain Verloes

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 928 KB

english, 2011

26

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

Andreas Busche, Luitgard M. Graul-Neumann, Christiane Zweier, Anita Rauch, Eva Klopocki, Denise Horn

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 750 KB

english, 2011

27

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus

Chiara Palka, Melissa Alfonsi, Elisena Morizio, Alessandra Soranno, Daniela La Rovere, Barbara Matarrelli, Anna Lucia Rullo, Roberto Zori, Francesco Chiarelli, Giuseppe Calabrese

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 373 KB

english, 2011

28

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems

Adriana Lo-Castro, Nadia El-Malhany, Cinzia Galasso, Alberto Verrotti, Anna Maria Nardone, Diana Postorivo, Cristina Palmieri, Paolo Curatolo

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 220 KB

english, 2011

29

Transient aplastic anemia in Down’s syndrome – A rare association

Geeta Gathwala, Poonam Dalal, Jagjit Singh Dalal, Ojasvini Choudhry

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 92 KB

english, 2011

30

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

Panagiota Grigori, Elena Panayiotou, Carolina Sismani, George Koumbaris, Marios Ioannides, Christos Costalos, Zoe Kosmaidou-Aravidou, Ludmila Kousoulidou, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 270 KB

english, 2011

31

A proposal for classification of entities combining vascular malformations and deregulated growth

Charlène E.U. Oduber, Chantal M.A.M. van der Horst, J. Henk Sillevis Smitt, Mark J.C. Smeulders, Vibhu Mendiratta, John I. Harper, Maurice A.M. van Steensel, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.20 MB

english, 2011

32

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6

Shailly Jain Ghai, Mary Shago, Manohar Shroff, Grace Yoon

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 424 KB

english, 2011

33

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome: Report, antenatal findings and review

Jan Weichert, Andreas Schröer, Feriel Amari, Reiner Siebert, Almuth Caliebe, Inga Nagel, Gabriele Gillessen-Kaesbach, Inga Mohrmann, Yorck Hellenbroich

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 554 KB

english, 2011

34

Novel deletion encompassing exons 5–12 of the UBE3A gene in a girl with Angelman syndrome

Ana Beleza-Meireles, Rita Cerqueira, Sérgio B. Sousa, Aida Palmeiro, Lina Ramos

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 418 KB

english, 2011

35

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

Salima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel-Paulet, Candace Bensignor, Nathalie Méjean, Muriel Payet, Clémence Ragon, Christine Durand, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéri

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

36

A novel mutation in TNNT3 associated with Sheldon–Hall syndrome in a Chinese family with vertical talus

Ning Zhao, Miao Jiang, Weitian Han, Chaoying Bian, Xuefu Li, Fang Huang, Qi Kong, Jianxin Li

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 331 KB

english, 2011

37

Written information to patients in clinical genetics: What’s the impact?

C. Cassini, C. Thauvin-Robinet, S. Vinault, C. Binquet, F. Coron, A. Masurel-Paulet, C. Bonithon-Kopp, S. Mercier, L. Joly, F. Huet, L. Faivre

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

38

Editorial Board

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 46 KB

english, 2011

39

Tyrosinemia type II (Richner–Hanhart syndrome): A new mutation in the TAT gene

Vida Čulic, Regina C. Betz, Melanie Refke, Ksenija Fumic, Jasminka Pavelic

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 316 KB

english, 2011

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