Volume 20; Issue 2

European Journal of Human Genetics

Volume 20; Issue 2

1

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Hanemaaijer, Nicolien M, Sikkema-Raddatz, Birgit, van der Vries, Gerben, Dijkhuizen, Trijnie, Hordijk, Roel, van Essen, Anthonie J, Veenstra-Knol, Hermine E, Kerstjens-Frederikse, Wilhelmina S, Herker

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 287 KB

english, 2011

2

Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo

Martínez-González, Luis Javier, Martínez-Espín, Esther, Álvarez, Juan Carlos, Albardaner, Francesc, Rickards, Olga, Martínez-Labarga, Cristina, Calafell, Francesc, Lorente, José Antonio

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 400 KB

english, 2011

3

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Vieira, Gustavo H, Rodriguez, Jayson D, Carmona-Mora, Paulina, Cao, Lei, Gamba, Bruno F, Carvalho, Daniel R, de Rezende Duarte, Andréa, Santos, Suely R, de Souza, Deise H, DuPont, Barbara R

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

4

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bob

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

5

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

Winney, Bruce, Boumertit, Abdelhamid, Day, Tammy, Davison, Dan, Echeta, Chikodi, Evseeva, Irina, Hutnik, Katarzyna, Leslie, Stephen, Nicodemus, Kristin, Royrvik, Ellen C, Tonks, Susan, Yang, Xiaofeng,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

6

Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer

Kwiatkowski, Fabrice, Dessenne, Pascal, Laquet, Claire, Petit, Marie-Françoise, Bignon, Yves-Jean

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 442 KB

english, 2012

7

Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders

McWhirter, Rebekah E, McQuillan, Ruth, Visser, Elizabeth, Counsell, Carl, Wilson, James F

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 232 KB

english, 2012

8

Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

van Lier, Margot G F, Korsse, Susanne E, Mathus-Vliegen, Elisabeth M H, Kuipers, Ernst J, van den Ouweland, Ans M W, Vanheusden, Kathleen, van Leerdam, Monique E, Wagner, Anja

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 222 KB

english, 2012

9

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

Morcel, Karine, Dallapiccola, Bruno, Pasquier, Laurent, Watrin, Tanguy, Bernardini, Laura, Guerrier, Daniel

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 146 KB

english, 2012

10

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I Karen, Mackay, Deborah J G

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

11

Clinical utility gene card for: Central core disease

Lillis, Suzanne, Abbs, Stephen, Mueller, Clemens R, Muntoni, Francesco, Jungbluth, Heinz

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 233 KB

english, 2012

12

Clinical utility gene card for: Multi-minicore disease

Lillis, Suzanne, Abbs, Steve, Ferreiro, Ana, Muntoni, Francesco, Jungbluth, Heinz

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 193 KB

english, 2012

13

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

14

A useful guide for your practice

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 78 KB

english, 2012

15

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

Balog, Judit, Miller, Dan, Sanchez-Curtailles, Elena, Carbo-Marques, Jose, Block, Gregory, Potman, Marco, de Knijff, Peter, Lemmers, Richard JLF, Tapscott, Stephen J, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 445 KB

english, 2012

16

A British approach to sampling

Tyler-Smith, Chris, Xue, Yali

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 146 KB

english, 2012

17

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Haasdijk, Remco A, Cheng, Caroline, Maat-Kievit, Anneke J, Duckers, Henricus J

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 417 KB

english, 2012

18

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kev

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 386 KB

english, 2012

19

Identification and functional analysis of novel THAP1 mutations

Lohmann, Katja, Uflacker, Nils, Erogullari, Alev, Lohnau, Thora, Winkler, Susen, Dendorfer, Andreas, Schneider, Susanne A, Osmanovic, Alma, Svetel, Marina, Ferbert, Andreas, Zittel, Simone, Kühn, Andr

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 254 KB

english, 2012

20

Imaging genetics of FOXP2 in dyslexia

Wilcke, Arndt, Ligges, Carolin, Burkhardt, Jana, Alexander, Michael, Wolf, Christiane, Quente, Elfi, Ahnert, Peter, Hoffmann, Per, Becker, Albert, Müller-Myhsok, Bertram, Cichon, Sven, Boltze, Johanne

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

21

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

Viart, Victoria, Georges, Marie Des, Claustres, Mireille, Taulan, Magali

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 317 KB

english, 2012

22

Clinical utility gene card for: Cystinuria

Eggermann, Thomas, Zerres, Klaus, Nunes, Virginia, Font-Llitjós, Mariona, Bisceglia, Luigi, Chatzikyriakidou, Anthoula, Strologo, Luca dello, Pras, Elon, Creemers, John, Palacin, Manuel

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

23

Clinical utility gene card for: Phenylketonuria

Zschocke, Johannes, Haverkamp, Thomas, Møller, Lisbeth Birk

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 160 KB

english, 2012

24

Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats

Rask-Andersen, Mathias, Jacobsson, Josefin A, Moschonis, George, Chavan, Rohit A, Sikder, Md Abu Noman, Allzén, Elin, Alsiö, Johan, Chrousos, George P, Manios, Yannis, Fredriksson, Robert, Schiöth, He

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

25

Clinical utility gene card for: Fabry disease

Gal, Andreas, Beck, Michael, Winchester, Bryan

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 142 KB

english, 2012

26

Involvement of surfactant protein D in emphysema revealed by genetic association study

Ishii, Takeo, Hagiwara, Koichi, Kamio, Koichiro, Ikeda, Shinobu, Arai, Tomio, Mieno, Makiko Naka, Kumasaka, Toshio, Muramatsu, Masaaki, Sawabe, Motoji, Gemma, Akihiko, Kida, Kozui

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 384 KB

english, 2012

27

DNA and ability to reproduce: the ‘Secret’ of evolution

Ferlini, Alessandra

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 116 KB

english, 2012

28

On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case–control samples

Hiekkalinna, Tero, Göring, Harald HH, Lambert, Brian, Weiss, Kenneth M, Norrgrann, Petri, Schäffer, Alejandro A, Terwilliger, Joseph D

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 482 KB

english, 2012

29

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

Sibbons, Charlene, Morris, Joan K, Crolla, John A, Jacobs, Patricia A, Thomas, N Simon

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 296 KB

english, 2012

30

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

Bhoj, Elizabeth J, Ramos, Purita, Baker, Linda A, Garg, Vidu, Cost, Nicholas, Nordenskjöld, Agneta, Elder, Frederick F, Bleyl, Steven B, Bowles, Neil E, Arrington, Cammon B, Delhomme, Brigitte, Vanhou

Journal:

European Journal of Human Genetics

Year:

2012

File:

PDF, 59 KB

2012