Volume 15; Issue 4

European Journal of Human Genetics

Volume 15; Issue 4

1

Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group

Feder, Jeanette, Ovadia, Ofer, Glaser, Benjamin, Mishmar, Dan

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

2

Most pooling variation in array-based DNA pooling is attributable to array error rather than pool construction error

Macgregor, Stuart

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 76 KB

english, 2007

3

Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau

Martinez, Laisel, Underhill, Peter A, Zhivotovsky, Lev A, Gayden, Tenzin, Moschonas, Nicholas K, Chow, Cheryl-Emiliane T, Conti, Simon, Mamolini, Elisabetta, Cavalli-Sforza, L Luca, Herrera, Rene J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 368 KB

english, 2007

4

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

Vendramini, Siulan, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 505 KB

english, 2007

5

The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation

Decruyenaere, Marleen, Evers-Kiebooms, Gerry, Boogaerts, Andrea, Philippe, Kristien, Demyttenaere, Koen, Dom, René, Vandenberghe, Wim, Fryns, Jean-Pierre

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

6

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Mignon-Ravix, Cécile, Depetris, Danielle, Luciani, Judith J, Cuoco, Cristina, Krajewska-Walasek, Malgorzata, Missirian, Chantal, Collignon, Patrick, Delobel, Bruno, Croquette, Marie-Françoise, Moncla,

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 207 KB

english, 2007

7

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome

Bhuiyan, Zahurul A, Stewart, Helen, Redeker, Egbert J, Mannens, Marcel M A M, Hennekam, Raoul C M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 129 KB

english, 2007

8

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

Beleza-Meireles, Ana, Lundberg, Fredrik, Lagerstedt, Kristina, Zhou, Xiaolei, Omrani, Davood, Frisén, Louise, Nordenskjöld, Agneta

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

9

CHARGE syndrome: an update

Sanlaville, Damien, Verloes, Alain

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 195 KB

english, 2007

10

Distribution of the D15Z1 copy number polymorphism

Jacobs, Patricia A, Crolla, John A, Cockwell, Annette E

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 116 KB

english, 2007

11

‘Distorted’ mitochondrial DNA sequences in schizophrenic patients

Salas, Antonio, Torroni, Antonio, Bandelt, Hans-Jürgen, Olivieri, Anna, Bravi, Claudio, Yao, Yong-Gang

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

12

Reply to Bandelt et al

Martorell, Lourdes, Vilella, Elisabet

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

13

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Everett, Kate V, Chioza, Barry, Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dulac, Olivier, Eeg-Olofsson, Orvar, Feucht, Martha

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 214 KB

english, 2007

14

Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’

Béri-Deixheimer, Mylène, Gregoire, Marie-José, Toutain, Annick, Brochet, Karène, Briault, Sylvain, Schaff, Jean-Luc, Leheup, Bruno, Jonveaux, Philippe

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 187 KB

english, 2007

15

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

Castermans, Dries, Vermeesch, Joris R, Fryns, Jean-Pierre, Steyaert, Jean G, Van de Ven, Wim J M, Creemers, John W M, Devriendt, Koen

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 328 KB

english, 2007

16

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

Dehainault, Catherine, Michaux, Dorothée, Pagès-Berhouet, Sabine, Caux-Moncoutier, Virginie, Doz, François, Desjardins, Laurence, Couturier, Jérôme, Parent, Philippe, Stoppa-Lyonnet, Dominique, Gauthi

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

17

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample

Laivuori, Hannele, Heino, Sanna, Tiala, Inkeri, Knuutila, Sakari, Rasi, Vesa, Kere, Juha, Kivinen, Katja, Peterson, Hanna, Hiltunen, Leena

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

18

Angiotensinogen M235T polymorphism and the risk of myocardial infarction and stroke among hypertensive patients on ACE-inhibitors or β-blockers

Schelleman, Hedi, Klungel, Olaf H, Witteman, Jacqueline C M, Breteler, Monique M B, Yazdanpanah, Moygan, Danser, A H Jan, Hofman, Albert, van Duijn, Cornelia M, de Boer, Anthonius, Stricker, Bruno H C

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007