Volume 52; Issue 6

European Journal of Medical Genetics

Volume 52; Issue 6

1

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

2

Ligase IV syndrome

Dimitry A. Chistiakov, Natalia V. Voronova, Alexander P. Chistiakov

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 339 KB

english, 2009

3

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

Jill Urquhart, Graeme C.M. Black, Jill Clayton-Smith

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 400 KB

english, 2009

4

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation

Véronique Dutrannoy, Eva Klopocki, Ran Wei, Christiane Bommer, Stefan Mundlos, Luitgard M. Graul-Neumann, Marc Trimborn

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 557 KB

english, 2009

5

Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis

Marijn J. Vermeulen, Valerie de Haas, Margot F. Mulder, Claudie Flohil, Willem P.F. Fetter, Jiddeke M. van de Kamp

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

6

Early onset, multiple primary malignancies, and poor prognosis are indicative of an inherited predisposition to esophageal squamous cell carcinoma for the familial as opposed to the sporadic cases – An update on over 14-year survival

Denggui Wen, Shijie Wang, Liwei Zhang, Lizhen Wei, Wendi Zhou, Qing Peng

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 235 KB

english, 2009

7

Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation

Albertina De Sario

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 328 KB

english, 2009

8

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

Sabrina Spengler, Magdalena Gogiel, Nadine Schönherr, Gerhard Binder, Thomas Eggermann

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 97 KB

english, 2009

9

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases

B. Bessières-Grattagliano, B. Foliguet, L. Devisme, L. Loeuillet, P. Marcorelles, M. Bonnière, A. Laquerrière, C. Fallet-Bianco, J. Martinovic, S. Zrelli, N. Leticee, V. Cayol, H.C. Etchevers, M. Veke

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 695 KB

english, 2009

10

Interpreting humanity's genes

Adam C. Shaw, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 92 KB

english, 2009

11

Megalocornea – Urticaria pigmentosa syndrome – A new syndrome?

Kristiina Avela, Reija Alen, Maria Huttunen, Olavi Pärssinen

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 361 KB

english, 2009

12

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

Caroline Rooryck, Marianne Stef, Ingrid Burgelin, Delphine Simon, Noui Souakri, Jean-Benoît Thambo, Jean-François Chateil, Didier Lacombe, Benoît Arveiler

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 558 KB

english, 2009

13

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

J. Bliek, S. Snijder, S.M. Maas, A. Polstra, K. van der Lip, M. Alders, A.C. Knegt, M.M.A.M. Mannens

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 434 KB

english, 2009

14

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

Yolande van Bever, Saskia J. Gischler, Hans L.J. Hoeve, Liesbeth S. Smit, Jeroen Nauta, Dennis Dooijes

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 649 KB

english, 2009

15

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

Sujana Reddy, Natalia Dolzhanskaya, Jacquelyn Krogh, Milen Velinov

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 453 KB

english, 2009

16

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

Alison Yeung, Damien Bruno, Ingrid E. Scheffer, Daniel Carranza, Trent Burgess, Howard R. Slater, David J. Amor

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 281 KB

english, 2009

17

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, Jeroen Breckpot, Helen Fryssira, Sophia Kitsiou-Tzeli, Meropi Tzoufi, Joris R. Vermeesch, Maria Syrrou, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 166 KB

english, 2009

18

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7

Anna M. Lehman, Jan M. Friedman, David Chai, Farah R. Zahir, Marco A. Marra, Larraine Prisman, Erica Tsang, Patrice Eydoux, Linlea Armstrong

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 230 KB

english, 2009

19

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

Keiko Shimojima, Takehiko Inoue, Yuji Fujii, Kousaku Ohno, Toshiyuki Yamamoto

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 219 KB

english, 2009

20

A 6-year-old child with Fryns syndrome: Further delineation of the natural history of the condition in survivors

Maria Lisa Dentici, Francesco Brancati, Rita Mingarelli, Bruno Dallapiccola

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 450 KB

english, 2009

21

CV2 Editorial Board redaction

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

22

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour

C. Fauth, H. Kehrer-Sawatzki, A. Zatkova, S. Machherndl-Spandl, L. Messiaen, G. Amann, J.A. Hainfellner, K. Wimmer

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 882 KB

english, 2009

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