Volume 14; Issue 5

European Journal of Human Genetics

Volume 14; Issue 5

1

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor

Plaschke, Jens, Linnebacher, Michael, Kloor, Matthias, Gebert, Johannes, Cremer, Friedrich W, Tinschert, Sigrid, Aust, Daniela E, von Knebel Doeberitz, Magnus, Schackert, Hans K

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

2

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population

Immel, Uta-Dorothee, Krawczak, Michael, Udolph, Jürgen, Richter, Angela, Rodig, Heike, Kleiber, Manfred, Klintschar, Michael

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

3

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

Hampshire, Daniel J, Ayub, Mohammed, Springell, Kelly, Roberts, Emma, Jafri, Hussain, Rashid, Yasmin, Bond, Jacquelyn, Riley, John H, Woods, C Geoffrey

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 192 KB

english, 2006

4

A text-mining analysis of the human phenome

van Driel, Marc A, Bruggeman, Jorn, Vriend, Gert, Brunner, Han G, Leunissen, Jack A M

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 253 KB

english, 2006

5

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders

Robertson, Stephen P, Thompson, Sarah, Morgan, Timothy, Holder-Espinasse, Muriel, Martinot-Duquenoy, Véronique, Wilkie, Andrew O M, Manouvrier-Hanu, Sylvie

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 145 KB

english, 2006

6

Schizophrenia genetics: uncovering positional candidate genes

Karayiorgou, Maria, Gogos, Joseph A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

7

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Férec, Claude, Casals, Teresa, Chuzhanova, Nadia, Macek, Milan, Bienvenu, Thierry, Holubova, Andrea, King, Caitriona, McDevitt, Trudi, Castellani, Carlo, Farrell, Philip M

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

8

Human Genome: Which proteins contribute to human-chimpanzee differences?

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

9

Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development

Tassabehji, May, Donnai, Dian

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

10

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

Soini, Sirpa, Ibarreta, Dolores, Anastasiadou, Violetta, Aymé, Ségolène, Braga, Suzanne, Cornel, Martina, Coviello, Domenico A, Evers-Kiebooms, Gerry, Geraedts, Joep, Gianaroli, Luca

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 518 KB

english, 2006

11

The need for interaction between assisted reproduction technology and genetics

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 51 KB

english, 2006

12

Clinical genetics: Medical genetics

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 36 KB

english, 2006

13

Use of phenotypic covariates in association analysis by sequential addition of cases

Macgregor, Stuart, Craddock, Nick, Holmans, Peter A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

14

New variants in the mitochondrial genomes of schizophrenic patients

Martorell, Lourdes, Segués, Teresa, Folch, Gerard, Valero, Joaquín, Joven, Jorge, Labad, Antonio, Vilella, Elisabet

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 165 KB

english, 2006

15

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

Vanmolkot, Kaate R J, Kors, Esther E, Turk, Ulku, Turkdogan, Dylsad, Keyser, Antoine, Broos, Ludo A M, Kia, Sima Kheradmand, van den Heuvel, Jeroen J M W, Black, David F, Haan, Joost

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 257 KB

english, 2006

16

A novel mutation in JARID1C gene associated with mental retardation

Santos, Cristina, Rodriguez-Revenga, Laia, Madrigal, Irene, Badenas, Celia, Pineda, Merce, Milà, Montserrat

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

17

Assisted reproduction and genetics

Kääriäinen, Helena

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 35 KB

english, 2006

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