Volume 19; Issue 3

European Journal of Human Genetics

Volume 19; Issue 3

1

Clinical utility gene card for: Axenfeld–Rieger syndrome

Weisschuh, Nicole, De Baere, Elfride, Wissinger, Bernd, Tümer, Zeynep

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 111 KB

english, 2010

2

Clinical utility gene card for: hypophosphatasia

Mornet, Etienne, Beck, Christine, Bloch-Zupan, Agnès, Girschick, Hermann, Le Merrer, Martine

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 156 KB

english, 2010

3

The clinical spectrum of complete FBN1 allele deletions

Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

4

Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon

Haber, Marc, Platt, Daniel E, Badro, Danielle A, Xue, Yali, El-Sibai, Mirvat, Bonab, Maziar Ashrafian, Youhanna, Sonia C, Saade, Stephanie, Soria-Hernanz, David F, Royyuru, Ajay

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 547 KB

english, 2010

5

Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia

Karns, Rebekah, Zhang, Ge, Jeran, Nina, Havas-Augustin, Dubravka, Missoni, Sasa, Niu, Wen, Indugula, Subba Rao, Sun, Guangyun, Durakovic, Zijad, Narancic, Nina Smolej

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 266 KB

english, 2010

6

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Huyghe, Jeroen R, Fransen, Erik, Hannula, Samuli, Van Laer, Lut, Van Eyken, Els, Mäki-Torkko, Elina, Aikio, Pekka, Sorri, Martti, Huentelman, Matthew J, Camp, Guy Van

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 476 KB

english, 2010

7

Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes

Napolioni, Valerio, Lombardi, Federica, Sacco, Roberto, Curatolo, Paolo, Manzi, Barbara, Alessandrelli, Riccardo, Militerni, Roberto, Bravaccio, Carmela, Lenti, Carlo, Saccani, Monica

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 341 KB

english, 2010

8

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Azmanov, Dimitar N, Dimitrova, Stanislava, Florez, Laura, Cherninkova, Sylvia, Draganov, Dragomir, Morar, Bharti, Saat, Rosmawati, Juan, Manel, Arostegui, Juan I, Ganguly, Sriparna

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 453 KB

english, 2010

9

A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm

Golledge, Jonathan, Biros, Erik, Warrington, Nicole, Jones, Gregory T, Cooper, Matthew, van Rij, Andre M, Palmer, Lyle J, Norman, Paul E

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

10

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 452 KB

english, 2010

11

Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer

van Roon, Eddy H J, de Miranda, Noël F C C, van Nieuwenhuizen, Merlijn P, de Meijer, Emile J, van Puijenbroek, Marjo, Yan, Pearlly S, Huang, Tim H-M, van Wezel, Tom, Morreau, Hans, Boer, Judith M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 435 KB

english, 2010

12

Clinical utility gene card for: Laing distal myopathy

Lamont, Phillipa, Wallefeld, William, Davis, Mark, Udd, Bjarne, Laing, Nigel

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

13

Clinical utility gene card for: Bardet–Biedl syndrome

Slavotinek, Anne, Beales, Philip

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

14

Clinical utility gene card for: Retinoblastoma

Lohmann, Dietmar, Gallie, Brenda, Dommering, Charlotte, Gauthier-Villars, Marion

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 106 KB

english, 2010

15

Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population

Tanimura, Daisuke, Shibata, Rei, Izawa, Hideo, Hirashiki, Akihiro, Asano, Hiroyuki, Murase, Yosuke, Miyata, Seiko, Nakatochi, Masahiro, Ouchi, Noriyuki, Ichihara, Sahoko

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 561 KB

english, 2010

16

Clinical utility gene card for: Silver–Russell syndrome

Eggermann, Thomas, Buiting, Karin, Temple, I Karen

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

17

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

Hamel, Nancy, Feng, Bing-Jian, Foretova, Lenka, Stoppa-Lyonnet, Dominique, Narod, Steven A, Imyanitov, Evgeny, Sinilnikova, Olga, Tihomirova, Laima, Lubinski, Jan, Gronwald, Jacek

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 401 KB

english, 2010

18

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

19

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

20

Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome

Dostalova Merkerova, Michaela, Krejcik, Zdenek, Votavova, Hana, Belickova, Monika, Vasikova, Alzbeta, Cermak, Jaroslav

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 742 KB

english, 2010

21

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

Doucette, Lance, Green, Jane, Fernandez, Bridget, Johnson, Gordon J, Parfrey, Patrick, Young, Terry-Lynn

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 452 KB

english, 2010

22

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

Leshinsky-Silver, Esther, Malinger, Gustavo, Ben-Sira, Liat, Kidron, Dvora, Cohen, Sarit, Inbar, Shani, Bezaleli, Tali, Levine, Arie, Vinkler, Chana, Lev, Dorit

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 482 KB

english, 2010

23

Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer

Yoshida, Rintaro, Miyashita, Kaname, Inoue, Mayuko, Shimamoto, Akiyoshi, Yan, Zhao, Egashira, Akinori, Oki, Eiji, Kakeji, Yoshishiro, Oda, Shinya, Maehara, Yoshihiko

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 612 KB

english, 2010

24

An atypical case of hypomethylation at multiple imprinted loci

Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 230 KB

english, 2011

25

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Schlotawa, Lars, Ennemann, Eva Charlotte, Radhakrishnan, Karthikeyan, Schmidt, Bernhard, Chakrapani, Anupam, Christen, Hans-Jürgen, Moser, Hugo, Steinmann, Beat, Dierks, Thomas, Gärtner, Jutta

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 836 KB

english, 2011

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