Volume 14; Issue 7

European Journal of Human Genetics

Volume 14; Issue 7

1

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

Tomatsu, Shunji, Sukegawa, Kazuko, Trandafirescu, Georgeta G, Gutierrez, Monica A, Nishioka, Tatsuo, Yamaguchi, Seiji, Orii, Tadao, Froissart, Roseline, Maire, Irene, Chabas, Amparo

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

2

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

Thomas, N Simon, Durkie, Miranda, Potts, Gemma, Sandford, Richard, Van Zyl, Berendine, Youings, Sheila, Dennis, Nicholas R, Jacobs, Patricia A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

3

Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases

Marchington, David R, Scott-Brown, Martin, Barlow, David H, Poulton, Joanna

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

4

Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome

Singh, Krishna Kumar, Shukla, Praphulla Chandra, Rommel, Kathrin, Schmidtke, Jörg, Arslan-Kirchner, Mine

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 81 KB

english, 2006

5

Reply to Professor Haig

Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

6

Congenital bilateral absence of the vas deferens and recombination at CFTR

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

7

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

Piotrowska, Ewa, Jakóbkiewicz-Banecka, Joanna, Barańska, Sylwia, Tylki-Szymańska, Anna, Czartoryska, Barbara, Węgrzyn, Alicja, Węgrzyn, Grzegorz

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

8

Evolutionary Genetics: Is brain evolution still continuing in modern humans?

Stern, Rowena, Woods, Christopher Geoffrey

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 50 KB

english, 2006

9

Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics

Hjörleifsson, Stefán, Schei, Edvin

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

10

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features

Belvederesi, Laura, Bianchi, Francesca, Loretelli, Cristian, Gagliardini, Daniela, Galizia, Eva, Bracci, Raffaella, Rosati, Saverio, Bearzi, Italo, Viel, Alessandra, Cellerino, Riccardo

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

11

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Gloyn, Anna L, Diatloff-Zito, Catherine, Edghill, Emma L, Bellanné-Chantelot, Christine, Nivot, Sylvie, Coutant, Régis, Ellard, Sian, Hattersley, Andrew T, Robert, Jean Jacques

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

12

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

Ylisaukko-oja, Sanna K, Cybulski, Cezary, Lehtonen, Rainer, Kiuru, Maija, Matyjasik, Joanna, Szymañska, Anna, Szymañska-Pasternak, Jolanta, Dyrskjot, Lars, Butzow, Ralf, Orntoft, Torben F

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 119 KB

english, 2006

13

Localization of candidate regions for a novel gene for Kartagener syndrome

Gutierrez-Roelens, Ilse, Sluysmans, Thierry, Jorissen, Mark, Amyere, Mustapha, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

14

The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure

Schelleman, Hedi, Klungel, Olaf H, Witteman, Jacqueline C M, Hofman, Albert, van Duijn, Cornelia M, de Boer, Anthonius, Stricker, Bruno H C H

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 107 KB

english, 2006

15

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

Vasudevan, Pradeep C, Twigg, Stephen R F, Mulliken, John B, Cook, Jackie A, Quarrell, Oliver W J, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 179 KB

english, 2006

16

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q

Finck, Anemone, Van der Meer, Jos W M, Schäffer, Alejandro A, Pfannstiel, Jessica, Fieschi, Claire, Plebani, Alessandro, Webster, A David B, Hammarström, Lennart, Evans, G

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 134 KB

english, 2006

17

Handy Book on Cancer Genetics Risk Assessment

Kristoffersson, Ulf

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 39 KB

english, 2006