Volume 17; Issue 12

European Journal of Human Genetics

Volume 17; Issue 12

1

On the origin of Y-chromosome haplogroup N1b

Malyarchuk, Boris, Derenko, Miroslava

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

2

Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins

Mirabal, Sheyla, Underhill, Peter A, Herrera, Rene J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

3

Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis

Gao, Lei, Nieters, Alexandra, Brenner, Hermann

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 258 KB

english, 2009

4

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Seifert, Wenke, Beninde, Julia, Hoffmann, Katrin, Lindner, Tom H, Bassir, Christian, Aksu, Fuat, Hübner, Christoph, Verbeek, Nienke E, Mundlos, Stefan, Horn, Denise

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

5

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

6

Caveolinopathies: from the biology of caveolin-3 to human diseases

Gazzerro, Elisabetta, Sotgia, Federica, Bruno, Claudio, Lisanti, Michael P, Minetti, Carlo

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 59 KB

english, 2009

7

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

Klooster, Rinse, Straasheijm, Kirsten, Shah, Bharati, Sowden, Janet, Frants, Rune, Thornton, Charles, Tawil, Rabi, van der Maarel, Silvère

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 369 KB

english, 2009

8

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

Kobayashi, Hisato, Hiura, Hitoshi, John, Rosalind M, Sato, Akiko, Otsu, Eiko, Kobayashi, Naoko, Suzuki, Rei, Suzuki, Fumihiko, Hayashi, Chika, Utsunomiya, Takafumi

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 449 KB

english, 2009

9

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Taulan, Magali, Guittard, Caroline, Theze, Corinne, Claustres, Mireille, Georges, Marie des

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 193 KB

english, 2009

10

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

11

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Bliek, Jet, Alders, Marielle, Maas, Saskia M, Oostra, Roelof-Jan, Mackay, Deborah M, van der Lip, Karin, Callaway, Johnatan L, Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 439 KB

english, 2009

12

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

Nawaz, Sadia, Klar, Joakim, Wajid, Muhammad, Aslam, Muhammad, Tariq, Muhammad, Schuster, Jens, Baig, Shahid Mahmood, Dahl, Niklas

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 306 KB

english, 2009

13

Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium

Fardo, David W, Becker, K David, Bertram, Lars, Tanzi, Rudolph E, Lange, Christoph

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

14

Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies

Tian, Tian, Bai, Jianling, Hu, Zhibin, Xu, Yan, Dong, Jing, Chen, Feng, Wang, Xinru, Shen, Hongbing, Chen, Wensen, Wang, Sumin

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

15

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results

Forsberg, Joanna Stjernschantz, Hansson, Mats G, Eriksson, Stefan

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

16

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Bredenoord, Annelien, Dondorp, Wybo, Pennings, Guido, de Die-Smulders, Christine, Smeets, Bert, de Wert, Guido

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

17

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Engels, Hartmut, Wohlleber, Eva, Zink, Alexander, Hoyer, Juliane, Ludwig, Kerstin U, Brockschmidt, Felix F, Wieczorek, Dagmar, Moog, Ute, Hellmann-Mersch, Birgit, Weber, Ruthild G

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 452 KB

english, 2009

18

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Tümer, Zeynep, Bach-Holm, Daniella

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 393 KB

english, 2009

19

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study

Ehret, Georg B, O'Connor, Ashley A, Weder, Alan, Cooper, Richard S, Chakravarti, Aravinda

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 494 KB

english, 2009

20

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

Jacob, Francois Dominique, Ramaswamy, Vijay, Andersen, John, Bolduc, Francois V

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

21

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Hersmus, Remko, de Leeuw, Bertie HCGM, Stoop, Hans, Bernard, Pascal, van Doorn, Helena C, Brüggenwirth, Hennie T, Drop, Stenvert LS, Oosterhuis, J Wolter, Harley, Vincent R, Looijenga, Leendert HJ

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 566 KB

english, 2009

22

Comparing population structure as inferred from genealogical versus genetic information

Colonna, Vincenza, Nutile, Teresa, Ferrucci, Ronald R, Fardella, Giulio, Aversano, Mario, Barbujani, Guido, Ciullo, Marina

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 216 KB

english, 2009

23

Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia

Boyarskikh, Uljana A, Zarubina, Natalja A, Biltueva, Julia A, Sinkina, Tatjana V, Voronina, Elena N, Lazarev, Aleksander F, Petrova, Valentina D, Aulchenko, Yurii S, Filipenko, Maxim L

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

24

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Hantke, Janina, Chandler, David, King, Rosalind, Wanders, Ronald JA, Angelicheva, Dora, Tournev, Ivailo, McNamara, Elyshia, Kwa, Marcel, Guergueltcheva, Velina, Kaneva, Radka

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 373 KB

english, 2009

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