Volume 17; Issue 11

European Journal of Human Genetics

Volume 17; Issue 11

1

The difficulty to classify complex dysmorphic syndromes on the ward

Schinzel, Albert

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

2

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009

Mandel, Jean-Louis, Lathrop, Mark, Cann, Howard M

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 123 KB

english, 2009

3

Human longevity and 11p15.5: a study in 1321 centenarians

Lescai, Francesco, Blanché, Helene, Nebel, Almut, Beekman, Marian, Sahbatou, Mourad, Flachsbart, Friederike, Slagboom, Eline, Schreiber, Stefan, Sorbi, Sandro, Passarino, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

4

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

De Rademaeker, Marjan, Verpoest, Willem, De Rycke, Martine, Seneca, Sara, Sermon, Karen, Desmyttere, Sonja, Bonduelle, Maryse, Van der Elst, Josianne, Devroey, Paul, Liebaers, Inge

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 143 KB

english, 2009

5

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

Zhou, Jin J, Lange, Kenneth, Papp, Jeanette C, Sinsheimer, Janet S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

6

J1-M267 Y lineage marks climate-driven pre-historical human displacements

Tofanelli, Sergio, Ferri, Gianmarco, Bulayeva, Kazima, Caciagli, Laura, Onofri, Valerio, Taglioli, Luca, Bulayev, Oleg, Boschi, Ilaria, Alù, Milena, Berti, Andrea

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 168 KB

english, 2009

7

Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk

Evans, D Gareth R, Clayton, Richard, Donnai, Paul, Shenton, Andrew, Lalloo, Fiona

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 93 KB

english, 2009

8

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes

van Hoek, Mandy, Dallinga-Thie, Geesje M, Steyerberg, Ewout W, Sijbrands, Eric J G

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

9

The role of mitochondrial genome in essential hypertension in a Chinese Han population

Zhu, Hai-Yan, Wang, Shi-Wen, Martin, Lisa J, Liu, Li, Li, Yan-Hua, Chen, Rui, Wang, Lin, Zhang, Min-Lu, Benson, D Woodrow

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

10

Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study

Stütz, Adrian M, Teran-Garcia, Margarita, Rao, D C, Rice, Treva, Bouchard, Claude, Rankinen, Tuomo

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 241 KB

english, 2009

11

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

Rand-Hendriksen, Svend, Lundby, Rigmor, Tjeldhorn, Lena, Andersen, Kai, Offstad, Jon, Semb, Svein Ove, Smith, Hans-Jørgen, Paus, Benedicte, Geiran, Odd

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 35 KB

english, 2009

12

Angelman syndrome (AS, MIM 105830)

Van Buggenhout, Griet, Fryns, Jean-Pierre

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 406 KB

english, 2009

13

Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

Garagnani, Paolo, Laayouni, Hafid, González-Neira, Anna, Sikora, Martin, Luiselli, Donata, Bertranpetit, Jaume, Calafell, Francesc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 156 KB

english, 2009

14

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

Barbaro, Michela, Balsamo, Antonio, Anderlid, Britt Marie, Myhre, Anne Grethe, Gennari, Monia, Nicoletti, Annalisa, Pittalis, Maria Carla, Oscarson, Mikael, Wedell, Anna

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 370 KB

english, 2009

15

Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians

Quarta, Giovanni, Stanzione, Rosita, Evangelista, Anna, Zanda, Bastianina, Di Angelantonio, Emanuele, Marchitti, Simona, Di Castro, Sara, Di Vavo, Marta, Volpe, Massimo, Rubattu, Speranza

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

16

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

van Silfhout, Anneke T, van den Akker, Peter C, Dijkhuizen, Trijnie, Verheij, Joke B G M, Olderode-Berends, Maran J W, Kok, Klaas, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 355 KB

english, 2009

17

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker,

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

18

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Plancke, Aurélie, Holder-Espinasse, Muriel, Rigau, Valérie, Manouvrier, Sylvie, Claustres, Mireille, Van Kien, Philippe Khau

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 290 KB

english, 2009

19

Novel SOX2 partner-factor domain mutation in a four-generation family

Mihelec, Marija, Abraham, Peter, Gibson, Kate, Krowka, Renata, Susman, Rachel, Storen, Rebecca, Chen, Yongjuan, Donald, Jenny, Tam, Patrick PL, Grigg, John R

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 281 KB

english, 2009

20

A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of −308 TNF polymorphism function using a novel integrated reporter system

Karimi, Mahdad, Goldie, Lauren C, Cruickshank, Mark N, Moses, Eric K, Abraham, Lawrence J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

21

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Fichou, Yann, Bahi-Buisson, Nadia, Nectoux, Juliette, Chelly, Jamel, Héron, Delphine, Cuisset, Laurence, Bienvenu, Thierry

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 62 KB

english, 2009

22

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Wawrzik, Michaela, Spiess, Andrej-Nikolai, Herrmann, Ralf, Buiting, Karin, Horsthemke, Bernhard

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 519 KB

english, 2009

23

Council of Europe adopts protocol on genetic testing for health purposes

Lwoff, Laurence

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 172 KB

english, 2009

24

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houday

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 181 KB

english, 2009

25

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart

Gill, Harinder K, Parsons, Sian R, Spalluto, Cosma, Davies, Angela F, Knorz, Victoria J, Burlinson, Clare EG, Ng, Bee Ling, Carter, Nigel P, Ogilvie, Caroline Mackie, Wilson, David I

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 565 KB

english, 2009

26

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

Webb, Emily, Broderick, Peter, Lubbe, Steven, Chandler, Ian, Tomlinson, Ian, Houlston, Richard S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 599 KB

english, 2009

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